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https://www.readbyqxmd.com/read/29232961/friendships-and-social-participation-as-markers-of-quality-of-life-of-adolescents-and-adults-with-fragile-x-syndrome-and-autism
#1
Leann Smith DaWalt, Lauren V Usher, Jan S Greenberg, Marsha R Mailick
Friendships and social participation are key domains of quality of life for individuals with intellectual disabilities. This study examined the friendships, social and recreational activities, and family social networks of individuals with intellectual disabilities from two distinct diagnostic groups: individuals diagnosed with fragile X syndrome (n = 81) compared with those diagnosed with autistic disorder (n = 226). Within each diagnostic group, individuals in two developmental stages were compared: adolescence and adulthood...
December 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29230567/cancer-nanomedicine-a-review-of-recent-success-in-drug-delivery
#2
REVIEW
Stephanie Tran, Peter-Joseph DeGiovanni, Brandon Piel, Prakash Rai
Cancer continues to be one of the most difficult global healthcare problems. Although there is a large library of drugs that can be used in cancer treatment, the problem is selectively killing all the cancer cells while reducing collateral toxicity to healthy cells. There are several biological barriers to effective drug delivery in cancer such as renal, hepatic, or immune clearance. Nanoparticles loaded with drugs can be designed to overcome these biological barriers to improve efficacy while reducing morbidity...
December 11, 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/29228163/ethical-challenges-confronted-when-providing-nusinersen-treatment-for-spinal-muscular-atrophy
#3
Alyssa M Burgart, David Magnus, Holly K Tabor, Erin Daksha-Talati Paquette, Joel Frader, Jaqueline J Glover, Brian M Jackson, Charlotte H Harrison, David K Urion, Robert J Graham, John F Brandsema, Chris Feudtner
The US Food and Drug Administration's December 2016 approval of nusinersen for the treatment of patients with all subtypes of spinal muscular atrophy ushered in a new era for patients with spinal muscular atrophy, their families, and all those involved in their care. The extreme cost of the medication and the complicated logistical requirements for administering nusinersen via lumbar puncture have created practical challenges that raise important ethical considerations. We discuss 6 challenges faced at the institutional level in the United States: cost, limited evidence, informed consent, treatment allocation, fair distribution of responsibilities, and transparency with stakeholders...
December 11, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29221689/tissue-regeneration-the-crosstalk-between-mesenchymal-stem-cells-and-immune-response
#4
Kai Qi, Na Li, Zhenyu Zhang, Gerry Melino
Mesenchymal stem cells (MSCs) exist in almost all tissues with the capability to differentiate into several different cell types and hold great promise in tissue repairs in a cell replacement manner. The study of the bidirectional regulation between MSCs and immune response has ushered an age of rethinking of tissue regeneration in the process of stem cell-based tissue repairs. By sensing damaged signals, both endogenous and exogenous MSCs migrate to the damaged site where they involve in the reconstitution of the immune microenvironment and empower tissue stem/progenitor cells and other resident cells, whereby facilitate tissue repairs...
December 2, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29217972/clinical-aspects-and-antenatal-diagnosis-of-invasive-placenta-a-review-of-ten-years-experience-of-a-multi-profile-hospital-in-lithuania
#5
Jelena Volochovič, Diana Ramašauskaitė, Ramunė Šimkevičiūtė
Background: Invasive placenta is a rare obstetrical pathology that is life-threatening to mother and child. It is important to diagnose this pathology as early as possible and to plan further optimal care of patients in order to minimize life-threatening complications. The aim of this study was to analyze the frequency of cases of invasive placenta, the peculiarities of their clinical manifestation in women who gave birth from 2006 to 2015, to evaluate diagnostic and treatment options of this pathology, and to review their changes when the level of services provided by the institution changes...
2017: Acta Medica Lituanica
https://www.readbyqxmd.com/read/29217850/indian-society-of-anaesthesiologists-cardiopulmonary-resuscitation-guidelines-ushering-in-a-new-initiative
#6
EDITORIAL
Mukul Chandra Kapoor, Ssc Chakra Rao, Bibhuti Bhushan Mishra
No abstract text is available yet for this article.
November 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/29217020/cataract-surgery-outcomes-and-complications-in-retinal-dystrophy-patients
#7
Emma C Davies, Roberto Pineda
OBJECTIVE: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. DESIGN: Retrospective chart review at an academic tertiary referral centre. PARTICIPANTS: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29211983/how-and-why-chaperone-usher-pilus-rods-stretch
#8
Hye-Jeong Yeo
Type 1 and P pili are important virulence factors of uropathogenic Escherichia coli, the leading cause of urinary tract infections. In this issue of Structure, Hospenthal et al. (2017) describe a near-atomic resolution cryo-EM structure of the type 1 pilus rod, providing molecular insights into rod uncoiling in two pili.
December 5, 2017: Structure
https://www.readbyqxmd.com/read/29206924/predicting-australia-s-university-students-mental-health-status
#9
Wayne Usher, Clint Curran
University years are a period of increased morbidity and mortality, associated with negative health behaviours and corresponding poor mental health (MH) status amongst students. With this said, the aim of this research was to determine the level of influence a number of predictive factors have on Australia's university students' MH status. A cross-sectional study design, consisting of an online survey was implemented. Psychometric measurement components were based on adopting Bronfenbrenner's socio-ecological model approach to collecting descriptive statistics...
November 30, 2017: Health Promotion International
https://www.readbyqxmd.com/read/29204917/the-outcome-of-cochlear-implantation-among-children-with-genetic-syndromes
#10
Farid Alzhrani, Rayan Alhussini, Rawan Hudeib, Tuqa Alkaff, Tahera Islam, Abdulrahman Alsanosi
OBJECTIVE: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes. METHOD: Study design: case-control study. SETTING: A cochlear implantation tertiary referral center. PATIENTS: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use...
December 4, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29203682/reasons-why-people-do-not-attend-nhs-health-checks-a-systematic-review-and-qualitative-synthesis
#11
Emma Harte, Calum MacLure, Adam Martin, Catherine L Saunders, Catherine Meads, Fiona M Walter, Simon J Griffin, Jonathan Mant, Juliet A Usher-Smith
BACKGROUND: The NHS Health Check programme is a prevention initiative offering cardiovascular risk assessment and management advice to adults aged 40-74 years across England. Its effectiveness depends on uptake. When it was introduced in 2009, it was anticipated that all those eligible would be invited over a 5-year cycle and 75% of those invited would attend. So far in the current cycle from 2013 to 2018, 33.8% of those eligible have attended, which is equal to 48.5% of those invited to attend...
December 4, 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/29200282/incomplete-refolding-of-antibody-light-chains-to-non-native-protease-sensitive-conformations-leads-to-aggregation-a-mechanism-of-amyloidogenesis-in-patients
#12
Gareth J Morgan, Grace A Usher, Jeffery W Kelly
Genetic, biochemical, and pharmacologic evidence supports the hypothesis that conformationally altered or misfolded protein states enable aggregation and cytotoxicity in the systemic amyloid diseases. Reversible structural fluctuations of natively folded proteins are involved in the aggregation of many degenerative disease associated proteins. Herein, we use antibody light chains (LCs) that form amyloid fibrils in AL amyloidosis to consider an alternative hypothesis of amyloidogenesis: that transient unfolding and incomplete extracellular refolding of secreted proteins can lead to metastable, alternatively folded states that are more susceptible to aggregation or to endoproteolysis that can release aggregation-prone fragments...
December 4, 2017: Biochemistry
https://www.readbyqxmd.com/read/29199670/targeted-therapy-in-nonsmall-cell-lung-cancer
#13
REVIEW
T Puri
Activating mutations in the epidermal growth factor receptor gene and rearrangement of the anaplastic lymphoma kinase gene exemplify the molecular characterization of nonsmall cell lung cancer (NSCLC), particularly adenocarcinoma, and its therapeutic relevance. Several genetic alterations with prognostic and predictive role, including ROS, RET, MET, KRAS, have now been identified in adenocarcinoma and some such as DDR2 and fibroblast growth factor receptor 1 in squamous cell carcinoma. This has heralded the development of agents targeted against these aberrations...
January 2017: Indian Journal of Cancer
https://www.readbyqxmd.com/read/29198286/what-do-language-disorders-reveal-about-brain-language-relationships-from-classic-models-to-network-approaches
#14
Nina F Dronkers, Maria V Ivanova, Juliana V Baldo
Studies of language disorders have shaped our understanding of brain-language relationships over the last two centuries. This article provides a review of this research and how our thinking has changed over the years regarding how the brain processes language. In the 19th century, a series of famous case studies linked distinct speech and language functions to specific portions of the left hemisphere of the brain, regions that later came to be known as Broca's and Wernicke's areas. One hundred years later, the emergence of new brain imaging tools allowed for the visualization of brain injuries in vivo that ushered in a new era of brain-behavior research and greatly expanded our understanding of the neural processes of language...
October 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29198280/alzheimer-s-disease-past-present-and-future
#15
Mark W Bondi, Emily C Edmonds, David P Salmon
Although dementia has been described in ancient texts over many centuries (e.g., "Be kind to your father, even if his mind fail him." - Old Testament: Sirach 3:12), our knowledge of its underlying causes is little more than a century old. Alzheimer published his now famous case study only 110 years ago, and our modern understanding of the disease that bears his name, and its neuropsychological consequences, really only began to accelerate in the 1980s. Since then we have witnessed an explosion of basic and translational research into the causes, characterizations, and possible treatments for Alzheimer's disease (AD) and other dementias...
October 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29196980/lessons-from-the-launch-program-directors-reflect-on-implementing-the-child-and-adolescent-psychiatry-milestones
#16
Julie M Sadhu, Paul C Lee, Colin Stewart, Nicholas J Carson, Craigan Usher, Eleni Maneta, Robert Kitts, Neha Sharma, Adrienne Adams, Eric P Hazen, Myo Thwin Myint, Esther S Lee, Roma A Vasa, Terri L Randall, Stephanie L Leong, Sansea L Jacobson
No abstract text is available yet for this article.
December 1, 2017: Academic Psychiatry
https://www.readbyqxmd.com/read/29196967/modern-iron-replacement-therapy-clinical-and-pathophysiological-insights
#17
REVIEW
Domenico Girelli, Sara Ugolini, Fabiana Busti, Giacomo Marchi, Annalisa Castagna
Iron deficiency, with or without anemia, is extremely frequent worldwide, representing a major public health problem. Iron replacement therapy dates back to the seventeenth century, and has progressed relatively slowly until recently. Both oral and intravenous traditional iron formulations are known to be far from ideal, mainly because of tolerability and safety issues, respectively. At the beginning of this century, the discovery of hepcidin/ferroportin axis has represented a turning point in the knowledge of the pathophysiology of iron metabolism disorders, ushering a new era...
December 1, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#18
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine, M Nizon, M Vincent, S Mercier, C Calais, G García-García, Z Azher, L Lambert, Y Perdomo-Trujillo, F Giuliano, M Claustres, M Koenig, M Mondain, A F Roux
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29189165/childhood-medulloblastoma-current-therapies-emerging-molecular-landscape-and-newer-therapeutic-insights
#19
Soumen Khatua, Anne Song, Divyaswathi Citla Sridhar, Stephen C Mack
Medulloblastoma is the most common malignant brain tumor in children, currently treated uniformly based on histopathology and clinico-radiological risk stratification. This approach has been undermined by unpredictable relapses and therapeutic failures. Research endeavors over the last decade have clearly identified four molecular variants (WNT, SHH, Group 3, and Group 4) and their demographic, genomic, and epigenetic profile. Improved understanding of the signaling pathways and key oncogenic drivers in these subgroups, has shed light on the reasons for suboptimal clinical outcome and mechanisms of therapeutic resistance...
November 28, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/29179131/engineering-detoxified-pneumococcal-pneumolysin-derivative-%C3%AE-a146ply-for-self-biomineralization-of-calcium-phosphate-assessment-of-their-protective-efficacy-in-murine-infection-models
#20
Jingwen Wu, Kaifeng Wu, Wenchun Xu, Taixian Yuan, Xiaofang Wang, Jinghui Zhang, Yajun Min, Yibing Yin, Xuemei Zhang
Vaccine design ushered in the era of nanotechnology, as the vaccine is being developed toward particulate formulation. We have previously shown that the attenuated pneumolysin mutant (ΔA146PLY) was a safe and effective pneumococcal vaccine candidate. Here, to further optimize the formulation, we fused calcium phosphate (CaP) binding domains with ΔA146PLY so that the biocompatible CaP can mineralize with the protein automatically, allowing simple production of nanoparticle antigen during preparation. We fabricated four different nanoparticles, and then we compared the characteristics of different CaP-ΔA146PLY nanoparticles and demonstrated the influence of CaP binding domains on the size, shape and surface calcium content of the nanoparticles...
November 20, 2017: Biomaterials
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