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https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#1
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28528193/novel-missense-loss-of-function-mutations-of-wnt1-in-an-autosomal-recessive-osteogenesis-imperfecta-patient
#2
Joon Yeon Won, Woo Young Jang, Hye-Ran Lee, Seon Young Park, Woo-Young Kim, Jong Hoon Park, Yonghwan Kim, Tae-Joon Cho
Osteogenesis imperfecta (OI) is a heritable skeletal disorder characterized by bone fragility and low bone mass. Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. We report an OI patient with novel compound heterozygous WNT1 missense mutations, p.Glu123Asp and p.Cys153Gly. Both mutations are found in the exon 3, and the p.Glu123Asp is the most proximal N-terminus missense mutation among the reported WNT1 missense mutations in OI patients. In vitro functional analysis reveals that while expression of wildtype WNT1 stimulates canonical WNT1-mediated β-catenin signaling, that of individual WNT1 mutant fails to do so, indicative of the pathogenic nature of the WNT1 variants...
May 17, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#3
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28524208/microfluidic-analysis-of-red-blood-cell-deformability-as-a-means-to-assess-hemin-induced-oxidative-stress-resulting-from-plasmodium-falciparum-intraerythrocytic-parasitism
#4
Kerryn Matthews, Simon P Duffy, Marie-Eve Myrand-Lapierre, Richard R Ang, Li Li, Mark D Scott, Hongshen Ma
Hemolytic anemia is one of the hallmarks of malaria and leads to an increase in oxidized heme (hemin) within the plasma of infected individuals. While scavenger proteins sequester much of the circulating heme, it has been hypothesized that extracellular heme may play a central role in malaria pathogenesis. We have previously developed the multiplex fluidic plunger (MFP) device for the measurement of red blood cell (RBC) deformability. Here, we demonstrate that the measurement of changes in RBC deformability is a sensitive method for inferring heme-induced oxidative stress...
May 19, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28523885/intraepidermal-type-vii-collagen-by-immunofluorescence-mapping-a-specific-finding-for-bullous-dermolysis-of-the-newborn
#5
Gillian Heinecke, M Peter Marinkovich, Kerri E Rieger
BACKGROUND: Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa (DEB) characterized by skin fragility and blister formation at birth that typically resolves within the first year of life. Abnormal intraepidermal retention of type VII collagen (C7) has been reported as a characteristic feature of BDN, but few studies have investigated the specificity of this finding. METHODS: We retrospectively reviewed pathology reports of patients diagnosed with DEB using immunofluorescence mapping from January 2001 to January 2015...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523560/stem-cell-technology-for-epi-genetic-brain-disorders
#6
Renzo J M Riemens, Edilene S Soares, Manel Esteller, Raul Delgado-Morales
Despite the enormous efforts of the scientific community over the years, effective therapeutics for many (epi)genetic brain disorders remain unidentified. The common and persistent failures to translate preclinical findings into clinical success are partially attributed to the limited efficiency of current disease models. Although animal and cellular models have substantially improved our knowledge of the pathological processes involved in these disorders, human brain research has generally been hampered by a lack of satisfactory humanized model systems...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28522692/mitotic-chromosome-assembly-despite-nucleosome-depletion-in-xenopus-egg-extracts
#7
Keishi Shintomi, Fukashi Inoue, Hiroshi Watanabe, Keita Ohsumi, Miho Ohsugi, Tatsuya Hirano
The nucleosome is the fundamental structural units of eukaryotic chromatin. During mitosis, duplicated nucleosome fibers are organized into a pair of rod-shaped structures (chromatids) within a mitotic chromosome. However, it remains unclear whether nucleosome assembly is indeed an essential prerequisite for mitotic chromosome assembly. Here, we combined mouse sperm nuclei and Xenopus cell-free egg extracts depleted of the histone chaperone Asf1 and found that chromatid-like structures could be assembled even in the near-absence of nucleosomes...
May 18, 2017: Science
https://www.readbyqxmd.com/read/28522374/population-pharmacokinetics-of-nnz-2566-in-healthy-subjects
#8
Sean P Oosterholt, Joseph Horrigan, Nancy Jones, Larry Glass, Oscar Della Pasqua
NNZ-2566 is a novel, small molecule being developed as a treatment for cognitive impairment in different CNS conditions, including Rett and Fragile-X syndrome, both of which are associated with moderate to severe neurodevelopmental disorder. In current study we characterise the population pharmacokinetics of NNZ-2566 after administration of single and repeated ascending doses to healthy subjects. A meta-analytical approach was used to analyse pharmacokinetic data from 3 different studies, in which a total of 61 healthy subjects (median age 23years, range 19 to 38) were treated with NNZ-2566...
May 15, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28521692/pharmacological-treatment-of-bone-loss
#9
Rui Pang, Weibo Xia
Bone loss is common in clinical practice, such as health assessment of postmenopausal women, treatment of tumor metastasis, side-effects of glucocorticoids, and skeletal manifestations of inflammatory diseases. The imbalance of remodeling between bone resorption and bone formation, the pathophysiological basis of bone loss, increases bone fragility. The treatment of bone loss is mainly carried out from the treatment of osteoporosis. There are various pharmacological therapies for bone loss, which will be introduced in 3 aspects, including anti-resorptive agents, anabolic agents and new medications...
May 16, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28521207/strategies-to-support-transitions-from-hospital-to-home-for-children-with-medical-complexity-a-scoping-review
#10
REVIEW
Sydney Breneol, Julia Belliveau, Christine Cassidy, Janet A Curran
BACKGROUND: Children with medical complexity constitute a small but resource-intensive subgroup of children with special health care needs. Their medical fragility and resource-intensive needs put them at greater risk for inadequate transitions from hospital to home-based care, and subsequent adverse outcomes and hospital re-admissions. OBJECTIVE: This scoping literature review was conducted to map empirically researched interventions, frameworks, programs or models that could inform or support the transition from hospital to home for children with medical complexity...
May 4, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28521165/alteration-of-trace-element-concentrations-in-plants-by-adhering-particles-methods-of-correction
#11
Solveig Pospiech, Wiebke Fahlbusch, Benedikt Sauer, Tino Pasold, Hans Ruppert
Trace element concentrations in plants may be influenced by airborne dust or adhering soil particles. Neglecting adhering particles in plant tissue leads to misinterpretation of trace element concentrations in research fields such as phytomining, phytoremediation, bio-monitoring, uptake of micronutrients and provenance studies. In case washing or brushing the samples prior to analysis is insufficient or impossible due to fragile or pre-processed samples mathematical correction should be applied. In this study three methods are presented allowing to subtract the influence of adhering particles in order to obtain the element concentrations in plants resulting only from uptake...
May 10, 2017: Chemosphere
https://www.readbyqxmd.com/read/28521081/thermophysical-and-electrochemical-properties-of-ethereal-functionalised-cyclic-alkylammonium-based-ionic-liquids-as-potential-electrolytes-for-electrochemical-applications
#12
Alex Ryan Neale, Sinead Murphy, Peter Goodrich, Christopher Hardacre, Johan Jacquemin
A series of hydrophobic room temperature ionic liquids (ILs) based on ethereal functionalised pyrrolidinium, piperidinium and azepanium cations bearing the bis{(trifluoromethyl)sulfonyl}imide, [TFSI]-, anion were synthesized and characterized. Their physicochemical properties such as density, viscosity and electrical conductivity and thermal properties including phase transition behaviour and decomposition temperature have been measured. All of the ILs showed low melting point, low viscosity and good conductivity and the latter properties have been discussed in terms of the IL fragility, an important electrolyte feature of the transport properties of glassy-forming ILs...
May 18, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
https://www.readbyqxmd.com/read/28518173/simultaneous-quantification-of-n-and-o-glycans-using-a-solid-phase-method
#13
Shuang Yang, Yingwei Hu, Lori Sokoll, Hui Zhang
Glycosylation has a pivotal role in a diverse range of biological activities, modulating the structure and function of proteins. Glycogens coupled to the nitrogen atom (N-linked) of asparagine side chains or to the oxygen atom (O-linked) of serine and threonine side chains represent the two major protein glycosylation forms. N-glycans can be released by glycosidases, whereas O-glycans are often cleaved by chemical reaction. However, it is challenging to combine these enzymatic and chemical reactions in order to analyze both N- and O-glycans...
June 2017: Nature Protocols
https://www.readbyqxmd.com/read/28516878/high-incidence-of-vertebral-osteoporotic-fracture-within-the-first-year-after-liver-transplantation
#14
Sarah Butin, Isabelle Griffoul, Fabien Espitalier, Ephrem Salamé, Denis Mulleman, Philippe Goupille
OBJECTIVES: Bone loss is a complication for patients with liver diseases and after transplantation, which results in increased fracture risk. The aim of this study was to determine the incidence of osteoporotic vertebral fractures following liver transplantation. METHODS: We performed a prospective study of patients who were awaiting liver transplantation. Patients were seen at baseline (visit 1) and one year after transplantation (visit 2). At each visit, risk factors of osteoporosis were collected, biochemical tests were performed and bone mineral density with Vertebral Fracture Assessment was assessed...
April 29, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28516425/a-screening-tool-to-measure-eye-contact-avoidance-in-boys-with-fragile-x-syndrome
#15
Scott S Hall, Kaitlin M Venema
We examined the reliability, validity and factor structure of the Eye Contact Avoidance Scale (ECAS), a new 15-item screening tool designed to measure eye contact avoidance in individuals with fragile X syndrome (FXS). Internal consistency of the scale was acceptable to excellent and convergent validity with the Social Responsiveness Scale, Second Edition (SRS-2) and the Anxiety, Depression, and Mood Scale (ADAMS) was good. Boys with a comorbid ASD diagnosis obtained significantly higher scores on the ECAS compared to boys without ASD, when controlling for communication ability...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28516163/engineered-heparins-as-new-anticoagulant-drugs
#16
REVIEW
Deepika Vaidyanathan, Asher Williams, Jonathan S Dordick, Mattheos A G Koffas, Robert J Linhardt
Heparin is an anionic polysaccharide that is widely used as a clinical anticoagulant. This glycosaminoglycan is prepared from animal tissues in metric ton quantities. Animal-sourced heparin is also widely used in the preparation of low molecular weight heparins that are gaining in popularity as a result of their improved pharmacological properties. The recent contamination of pharmaceutical heparin together with concerns about increasing demand for this life saving drug and the fragility of the heparin supply chain has led the scientific community to consider other potential sources for heparin...
March 2017: Bioengineering & Translational Medicine
https://www.readbyqxmd.com/read/28515025/priority-setting-and-feasibility-of-health-information-exchange-for-primary-care-patients-with-intellectual-disabilities-a-modified-delphi-study
#17
Mathilde Mastebroek, Jenneken Naaldenberg, Hilde Tobi, Henny M J van Schrojenstein Lantman-de Valk, Antoine L M Lagro-Janssen, Geraline L Leusink
OBJECTIVE: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice. METHODS: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20)...
April 15, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28513623/prevalence-of-malnutrition-in-a-cohort-of-509-patients-with-acute-hip-fracture-the-importance-of-a-comprehensive-assessment
#18
M Díaz de Bustamante, T Alarcón, R Menéndez-Colino, R Ramírez-Martín, Á Otero, J I González-Montalvo
Backgrounds/objectives:Malnutrition is very common in acute hip fracture (HF) patients. Studies differ widely in their findings, with reported prevalences between 31 and 88% mainly because of small sample sizes and the use of different criteria. The aim of this study was to learn the prevalence of malnutrition in a large cohort of HF patients in an comprehensive way that includes the frequency of protein-energy malnutrition, vitamin D deficiency and sarcopenia. SUBJECTS/METHODS: A 1-year consecutive sample of patients admitted with fragility HF in a 1300-bed public University Hospital, who were assessed within the first 72 h of admission...
May 17, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28512331/entanglement-concentration-for-arbitrary-four-particle-linear-cluster-states
#19
Ting-Ting Song, Xiaoqing Tan, Tianyin Wang
Cluster states, whose model are a remarkably rich structure in measurement-based quantum computation, hold high degree of entanglement, while entanglement is very fragile during the process of transmission because of the inevitable interaction with the environment. We propose two entanglement concentration protocols for four-particle linear cluster states which and are susceptible to the decoherence and the imperfect communication setups. In the first protocol, POVM operators are introduced to maximize the success probability, and the second protocol is based on cross-Kerr nonlinearity which is utilized to check the parity between the original particle and the ancillary particle...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512004/contribution-of-high-resolution-peripheral-quantitative-ct-to-the-management-of-bone-and-joint-diseases
#20
Eric Lespessailles, Nada Ibrahim-Nasser, Hechmi Toumi, Roland Chapurlat
Many imaging modalities have been described to diagnose and monitor osteoporosis (OP), osteoarthritis and inflammatory rheumatic diseases. Over the last ten years, High Resolution peripheral Quantitative Computerized Tomography (HR-pQCT) was shown to be a precise and non invasive technique to study bone and joint diseases in clinical research. It allows the study of both cortical and trabecular bone microarchitecture at the distal tibia and radius, and further applications have been developed such as the study of mechanical properties by the finite element analysis...
May 13, 2017: Joint, Bone, Spine: Revue du Rhumatisme
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