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https://www.readbyqxmd.com/read/28649613/early-onset-parkinsonism-in-a-pedigree-with-phosphoglycerate-kinase-deficiency-and-a-heterozygous-carrier-do-pgk-1-mutations-contribute-to-vulnerability-to-parkinsonism
#1
Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M A El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi, Toshiki Mizuno
Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-onset parkinsonism has occasionally been reported as a neurological complication of this condition. However, heterozygous carriers of PGK-1 deficiency were thought to be neurologically asymptomatic. Here, we report a boy with PGK-1 deficiency and his mother, a carrier of a heterozygous mutation in PGK-1, both of whom presented with early-onset parkinsonism...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28649428/the-uk-me-cfs-biobank-for-biomedical-research-on-myalgic-encephalomyelitis-chronic-fatigue-syndrome-me-cfs-and-multiple-sclerosis
#2
Eliana M Lacerda, Erinna W Bowman, Jacqueline M Cliff, Caroline C Kingdon, Elizabeth C King, Ji-Sook Lee, Taane G Clark, Hazel M Dockrell, Eleanor M Riley, Hayley Curran, Luis Nacul
The UK ME/CFS Biobank was launched in August 2011 following extensive consultation with professionals and patient representatives. The bioresource aims to enhance research on myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), related to pathophysiology, biomarkers and therapeutic approaches. The cohort includes 18-60 year olds, encompassing 284 clinically-confirmed ME/CFS cases, 60 neurologist-diagnosed multiple sclerosis (MS) cases, and 135 healthy individuals. The Biobank contains blood samples, aliquoted into serum, plasma, peripheral blood mononuclear cells (PBMC), red blood cells/granulocyte pellet, whole blood, and RNA (totalling 29,863 aliquots)...
2017: Open J Bioresour
https://www.readbyqxmd.com/read/28647595/intermittent-hypoxia-caused-cognitive-dysfunction-relate-to-mirnas-dysregulation-in-hippocampus
#3
Huabin Gao, Zhaoli Han, Shan Huang, Ruojing Bai, Xintong Ge, Fanglian Chen, Ping Lei
Intermittent hypoxia (IH) is a characteristic pathophysiological change of obstructive sleep apnea (OSA), a commonly diagnosed chronic sleep disorder. With the process of OSA, patients will suffer from the nervous system damage and appear to multiple cognitive dysfunction. The mechanism that how IH causes cognitive impairment is still unknown. Both control and experimental rats were placed in conditions absence and presence of intermittent hypoxia (IH) for 8h a day for a week, two weeks and four weeks, and then followed by behavioral assessments with Morris Water Maze (MWM) test...
June 21, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28645736/liver-transplantation-in-the-most-severely-ill-cirrhotic-patients-a-multicenter-study-in-acute-on-chronic-liver-failure-grade-3
#4
Florent Artru, Alexandre Louvet, Isaac Ruiz, Eric Levesque, Julien Labreuche, Jose Ursic-Bedoya, Guillaume Lassailly, Sebastien Dharancy, Emmanuel Boleslawski, Gilles Lebuffe, Eric Kipnis, Philippe Ichai, Audrey Coilly, Eleonora De Martin, Teresa Maria Antonini, Eric Vibert, Samir Jaber, Astrid Herrerro, Didier Samuel, Alain Duhamel, Georges-Philippe Pageaux, Philippe Mathurin, Faouzi Saliba
BACKGROUND & AIMS: Liver transplantation (LT) for the most severely ill patients with cirrhosis with dysfunction of several organs (accurately assessed by the acute-on-chronic liver failure (ACLF) classification) remains controversial. We aimed to report the results of LT in patients with ACL3 and to compare these patients to non-transplanted patients with cirrhosis and multiple organ dysfunction and to patients transplanted with lower ACLF grade. -Methods: All patients with ACLF3 transplanted in 3 liver ICU were retrospectively included...
June 20, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28645553/a-mixed-methods-evaluation-of-an-integrated-medication-management-program-and-implications-for-implementation
#5
Shira H Fischer, Courtney K Armstrong, Erin L Duffy, Peter S Hussey
BACKGROUND: Improving medication adherence is a common and challenging issue. Taking medications as prescribed becomes particularly difficult for individuals with multiple chronic conditions. Poor adherence can lead to exacerbated health issues and prolonged disease severity. Medication Therapy Management is increasingly being used to help clinics improve medication adherence and reduce adverse events, but factors that enable implementation of such programs are not well identified. OBJECTIVE: To describe the factors associated with implementation of an innovative pharmacy program and to measure the impact of the intervention...
June 10, 2017: Research in Social & Administrative Pharmacy: RSAP
https://www.readbyqxmd.com/read/28645328/ocular-manifestations-as-first-signs-of-systemic-t-cell-lymphoma-in-two-cases
#6
Xiao Zhang, Xin-Shu Liu, Chan Zhao, Ya-Min Lai, Mei-Fen Zhang
BACKGROUND: Intraocular involvement of systemic T-cell lymphomas are uncommon and have been broadly regarded as markers of poor prognosis. We reported two cases of uveitis patients finally diagnosed as systemic T cell lymphoma. CASE PRESENTATION: Case one is a 19-year-old female presented with fever and liver dysfunction, and was diagnosed as EBV-associated chronic active hepatitis. Fourteen months later, she suffered from recurrent granulomatous anterior uveitis in both eyes, which failed to respond to steroid and immunosuppressant therapy...
June 23, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28645248/characterizing-the-reproductive-transcriptomic-correlates-of-acute-dehydration-in-males-in-the-desert-adapted-rodent-peromyscus-eremicus
#7
Lauren Kordonowy, Matthew MacManes
BACKGROUND: The understanding of genomic and physiological mechanisms related to how organisms living in extreme environments survive and reproduce is an outstanding question facing evolutionary and organismal biologists. One interesting example of adaptation is related to the survival of mammals in deserts, where extreme water limitation is common. Research on desert rodent adaptations has focused predominantly on adaptations related to surviving dehydration, while potential reproductive physiology adaptations for acute and chronic dehydration have been relatively neglected...
June 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28645058/promoting-physical-activity-in-high-poverty-neighborhood-parks-a-cluster-randomized-controlled-trial
#8
Deborah A Cohen, Bing Han, Kathryn P Derose, Stephanie Williamson, Terry Marsh, Laura Raaen, Thomas L McKenzie
Although physical activity can help mitigate or prevent multiple chronic diseases, most people in the U.S., especially high-poverty minority groups, engage in insufficient levels of physical activity. To test ways to promote more physical activity in high-poverty area public parks we conducted a randomized controlled intervention trial. After completing baseline measures of park-based physical activity using systematic direct observation three times/day each month for six months and assessing preferences for park programming among 1445 residents living within 1 mile of study parks, we randomized 48 parks in high poverty neighborhoods in the City of Los Angeles, California during 2013-2014 to four study arms: 1) free physical activity classes over a 6-month period, 2) a frequent user program where participants could win prizes based upon the number of visits they made to the park, 3) both the programs, and 4) neither one (control condition)...
June 3, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28643398/multiple-symmetric-lipomatosis
#9
Samuel P Prahlow, Patrick Kosciuk, Joseph A Prahlow
A significant number of medicolegal deaths involve ethanol. Deaths may be related to the acute, intoxicating effects of ethanol, either in decedents or within persons responsible for causing the deaths of others. Additionally, deaths may be related to chronic alcoholism. A chronic alcoholic may display characteristic external features which allow an observer, such as a forensic pathologist or other physician, to conclude that he/she is probably an alcoholic. Herein, the authors report two decedents with a rare condition known as "multiple symmetric lipomatosis" (MSL), which has a strong correlation with chronic alcoholism...
June 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28642214/dupuytren-disease-is-there-enough-comprehensive-patient-information-on-the-internet
#10
Grzegorz Zuk, Katharina B Reinisch, Dimitri A Raptis, Sonia Fertsch, Merlin Guggenheim, Adrian F Palma
BACKGROUND: Dupuytren disease is a chronic nonmalign fibroproliferative disorder that causes finger contractures via proliferation of new tissue under the glabrous skin of the hand, resulting in multiple functional limitations for the patient. As many surgical therapy options exist, patients suffering from this condition actively search for information in their environment before consulting a health professional. OBJECTIVE: As little is known about the quality of Web-based patient information, the aim of this study was to conduct its systematic evaluation using a validated tool...
June 22, 2017: Interactive Journal of Medical Research
https://www.readbyqxmd.com/read/28641445/subcutaneous-botulinum-toxin-injection-for-post-thoracotomy-pain-syndrome-in-palliative-care-a-case-report
#11
Saima Rashid, Amanda R Fields, Steven J Baumrucker
Post-thoracotomy pain syndrome (PTPS) is a traumatic neuropathy that can affect as many as 50% of patients undergoing thoracotomy. Patients are often refractory to conservative management and may require multiple analgesics for adequate pain control. Botulinum toxin, derived from Clostridium botulinum, has many uses in treating conditions involving spasticity, dystonia, chronic migraine, and a variety of pain disorders including neuropathies. Botulinum toxin type A injections may provide an alternative or adjunct to improve symptom management in patients with PTPS...
January 1, 2017: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/28639573/a-transcriptomic-analysis-of-physiological-significance-of-hypoxia-inducible-factor-1%C3%AE-in-myogenesis-and-carbohydrate-metabolism-of-genioglossus-in-mice
#12
Tong Hao, Yue-Hua Liu, Yuan-Yuan Li, Yun Lu, Hong-Yi Xu
BACKGROUND: Chronic intermittent hypoxia is the most remarkable feature of obstructive sleep apnea/hypopnea syndrome and it can induce the change of hypoxia-inducible factor-1α (HIF-1α) expression and contractile properties in the genioglossus. To clarify the role of HIF-1α in contractile properties of the genioglossus, this study generated and compared high-throughput RNA-sequencing data from genioglossus between HIF-1α conditional knockout (KO) mice and littermate wild-type (WT) mice...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28634168/contributions-of-children-with-multiple-chronic-conditions-to-pediatric-hospitalizations-in-the-united-states-a-retrospective-cohort-analysis
#13
Jay G Berry, Arlene S Ash, Eyal Cohen, Fareesa Hasan, Chris Feudtner, Matt Hall
BACKGROUND: Children with multiple chronic conditions (CMCC) are increasingly using hospital care. We assessed how much of US pediatric inpatient care is used by CMCC and which chronic conditions are the key drivers of hospital use. METHODS: A retrospective analysis of all 2.3 million US acute-care hospital discharges in 2012 for children age 0 to 18 years in the Kids' Inpatient Database. The ∼4.5 million US hospitalizations for pregnancy, childbirth, and newborn and neonatal care were not assessed...
June 20, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28634006/testosterone-differentially-affects-t-cells-and-neurons-in-murine-and-human-models-of-neuroinflammation-and-neurodegeneration
#14
Megan G Massa, Christina David, Stefanie Jörg, Johannes Berg, Barbara Gisevius, Sarah Hirschberg, Ralf A Linker, Ralf Gold, Aiden Haghikia
The high female-to-male sex ratio of multiple sclerosis (MS) prevalence has continuously confounded researchers, especially in light of male patients' accelerated disease course at later stages of MS. Although multiple studies have concentrated on estrogenic mechanisms of disease modulation, fairly little attention has been paid to androgenic effects in a female system, and even fewer studies have attempted to dissociate hormonal effects on the neurodegenerative and neuroinflammatory processes of MS. Herein, we demonstrate the differential effects of hormone treatment on the acute inflammatory and chronic neurodegenerative phases of murine experimental autoimmune encephalomyelitis...
July 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28633915/patient-centered-care-in-obstructive-sleep-apnea-a%C3%A2-vision%C3%A2-for%C3%A2-the%C3%A2-future
#15
REVIEW
Janet Hilbert, Henry K Yaggi
Obstructive sleep apnea is a common condition, with multiple potential neurocognitive, cardiovascular, and metabolic consequences. Efficacious treatment is available, but patient engagement is typically required for treatment to be effective. Patients with sleep apnea are phenotypically diverse and have individual needs, preferences, and values that impact treatment decisions. There has been a shift in obstructive sleep apnea management from diagnosis to chronic care management. Making treatment decisions that incorporate an individual patient's values and preferences and are personalized for that patient's biology has the potential to improve patient outcomes...
February 24, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/28633629/prevalence-of-and-risk-factors-for-severe-cognitive-and-sleep-symptoms-in-me-cfs-and-ms
#16
Vageesh Jain, Amit Arunkumar, Caroline Kingdon, Eliana Lacerda, Luis Nacul
BACKGROUND: There are considerable phenotypic and neuroimmune overlaps between myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and multiple sclerosis (MS). While the precise aetiologies of both MS and ME/CFS are unclear, evidence suggests that deterioration in cognitive function is widely prevalent in patients with either condition. Little is known about differing risk factors or exposures, which may lead to severe cognitive or sleep symptoms. This study aims to gauge the extent of cognitive and sleep symptoms in ME/CFS and MS patients participating in the UK ME/CFS Biobank and identify the characteristics of those experiencing severe symptoms...
June 20, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28633469/a-framework-illustrating-care-seeking-among-older-adults-in-a-hospital-emergency-department
#17
Barbara J Lutz, Allyson G Hall, Sean B Vanhille, Andrea L Jones, Jessica R Schumacher, Phyllis Hendry, Jeffrey S Harman, Donna L Carden
Background and Objectives: Older adults seeking emergency department (ED) care often have multiple, complex chronic conditions. We sought to understand factors that influence ED care-seeking by older adults and present a theoretical framework illustrating this process. Research Design and Methods: In this grounded theory study, we interviewed 40 older adults with chronic illness within 90 days of an ED visit to explore their decision-making about seeking ED care...
June 17, 2017: Gerontologist
https://www.readbyqxmd.com/read/28630851/vacuum-assisted-closure-in-patients-with-post-operative-infections-after-instrumented-spine-surgery-a-series-of-12-cases
#18
Maya Kale, Pravin Padalkar, Varshil Mehta
INTRODUCTION: Post-operative wound infections after spinal surgery is a very serious problem, leading to a risk of significant morbidity which may even lead to prolonged hospitalization. Various treatment protocols have been recommended for debridement, antibiotic, and soft-tissue management, but with mixed results. However, the risk of morbidity is still high with these treatment options. Vacuum-assisted closure (VAC) system has been gaining popularity recently in the management of subacute, acute, and chronic wounds...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630846/chronic-recurrent-multifocal-osteomyelitis-a-case-report-with-atypical-presentation
#19
Miguel Pádua Figueiredo, Marco Pato, Fernando Amaral
INTRODUCTION: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory condition. The clinical picture consists of sterile osteomyelitis, typically with multiple-site lesions in the metaphysis of long bones and not uncommonly, symmetrical bone involvement. It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location. CASE REPORT: A previously healthy 12-year-old Caucasian girl came to our institution due to progressive pain on her left thigh for the previous 3 months...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630748/treatment-of-chronic-orthopaedic-infection
#20
Heinz Winkler
Chronic infections are one of the major challenges in orthopaedic surgery, both for surgeons and patients. They are characterised by obstinate persistency of the causing microorganisms and resulting long-term disablement of the patients, associated with remarkable costs for the health care system.Difficulties derive from the biofilm-mode of living of pathogens with resistances against immunological defence and antimicrobial substances, and osseous defects resulting from the disease itself and surgical interventions...
May 2017: EFORT open reviews
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