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https://www.readbyqxmd.com/read/28543781/fracture-prospectively-recorded-from-pre-puberty-to-young-adulthood-are-they-markers-of-peak-bone-mass-and-strength-in-males
#1
Chevalley T, J-P Bonjour, M-C Audet, F Merminod, B van Rietbergen, R Rizzoli, S Ferrari
Fractures are common in otherwise healthy children and adolescents. They result from trauma of varying severity. Some reflect a greater skeletal fragility. A long-term implication of these fractures is their potentiality to predict adult bone fragility and increased risk of osteoporosis in later life. Using DXA, HR-pQCT and µFEA measurements, we previously found in 124 healthy females followed from the age of 7.9 to 20.4 years, substantial deficits in both structural and strength components of the radius in the 42 girls who sustained a fracture during skeletal development...
May 24, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28542493/the-in-vivo-structure-of-biological-membranes-and-evidence-for-lipid-domains
#2
Jonathan D Nickels, Sneha Chatterjee, Christopher B Stanley, Shuo Qian, Xiaolin Cheng, Dean A A Myles, Robert F Standaert, James G Elkins, John Katsaras
Examining the fundamental structure and processes of living cells at the nanoscale poses a unique analytical challenge, as cells are dynamic, chemically diverse, and fragile. A case in point is the cell membrane, which is too small to be seen directly with optical microscopy and provides little observational contrast for other methods. As a consequence, nanoscale characterization of the membrane has been performed ex vivo or in the presence of exogenous labels used to enhance contrast and impart specificity...
May 2017: PLoS Biology
https://www.readbyqxmd.com/read/28541473/relationship-between-synaptic-ampar-and-spine-dynamics-impairments-in-the-fxs-mouse
#3
Anand Suresh, Anna Dunaevsky
Structural dynamics of dendritic spines are important for memory and learning and are impaired in neurodevelopmental disorders such as fragile X syndrome. Spine dynamics are regulated by activity-dependent mechanisms that involve modulation of AMPA receptors (AMPAR); however, the relationship between AMPAR and spine dynamics in vivo and how these are altered in FXS mouse model is not known. Here, we tracked AMPAR and spines over multiple days in vivo in the cortex and found that dendritic spines in the fmr1 KO mouse were denser, smaller, had higher turnover rates and contained less sGluA2 compared to littermate controls...
May 24, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28541279/do-the-data-really-support-ordering-fragile-x-testing-as-a-first-tier-test-without-clinical-features
#4
Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew, Sean Hofherr
PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with ID/LD and only 9% of males with ASD (including variants of uncertain significance and absence of heterozygosity). When males with ID/LD were tested for FX, the detection rate was 2...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28540268/effects-of-high-and-low-doses-of-folic-acid-on-the-soluble-receptor-activator-of-nuclear-factor-kappa-b-ligand-osteoprotegerin-ratio-during-pregnancy
#5
Nazila Fathi Maroufi, Amir Ghorbanihaghjo, Manizheh Sayyah Melli, Maryam Vaezi, Zohreh Hekmati Azar Mehrabani, Maryam Bannazadeh Amirkhiz, Nadereh Rashtchizadeh
BACKGROUND: Pregnancy Associated Osteoporosis (PAO) can lead to serious difficulties such as fragility fractures, elongated back pain and height loss in affected women. Soluble Receptor Activator of Nuclear Factor-Kappa B ligand (sRANKL) to Osteoprotegerin (OPG) ratio is chosen as a bone metabolism equation in many bone diseases characterized by bone resorption, such as post-menopausal osteoporosis and would be modified with folic acid supplementation. This study was done to compare the effects of high dose (5mg/day) and low dose (0...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28540116/using-care-bundles-to-improve-surgical-outcomes-and-reduce-variation-in-care-for-fragility-hip-fracture-patients
#6
Stephanie Bandara, Genni Lynch, Cameron Cooke, Paul Varghese, Nicola Ward
INTRODUCTION: Fragility hip fractures constitute a large proportion of orthogeriatric admissions to orthopedic wards. This study looked at reducing variation in care in fragility hip fracture patients using a novel approach with care bundles. The care bundle comprises 5 elements targeted at providing adequate analgesia, early mobilization, improving recognition of delirium, and decreasing rates of urinary infections. METHODS: A total of 198 patients who sustained a fragility hip fracture during the intervention period were included in the study...
June 2017: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/28537178/around-the-world
#7
(no author information available yet)
1. Fragility Fracture Network Global Congress 24-26 August, Malmo, Sweden tinyurl.com/fragility-fracture-conference.
May 24, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28536925/parental-perspectives-on-pharmacological-clinical-trials-a-qualitative-study-in-down-syndrome-and-fragile-x-syndrome
#8
Victoria Reines, Krista Charen, Tracie Rosser, Arri Eisen, Stephanie L Sherman, Jeannie Visootsak
Research studies focusing on parents' perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents' perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials...
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28536737/examining-the-treatment-gap-and-risk-of-subsequent-fractures-among-females-with-a-fragility-fracture-in-the-us-medicare-population
#9
A Keshishian, N Boytsov, R Burge, K Krohn, L Lombard, X Zhang, L Xie, O Baser
Our aim was to evaluate the gap in osteoporosis treatment and the impact of osteoporosis treatment on subsequent fragility fractures. We found osteoporosis medication use lowered risk of subsequent fractures by 21% and that black race, higher CCI scores, dementia, and kidney diseases reduced the likelihood of osteoporosis medication use. INTRODUCTION: The goal of this study was to evaluate the predictors of osteoporosis medication use and compare the risk of fragility fractures within 1 year of a fragility fracture between osteoporosis treated and untreated women...
May 23, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28535730/palliative-endovascular-techniques-for-management-of-peripheral-vascular-blowout-syndrome-in-end-stage-malignancies
#10
Lauren A Huntress, Samuel Kogan, Khanjan Nagarsheth, Naiem Nassiri
Vascular blowout syndrome (VBOS) secondary to neoplastic erosion is a dreadful complication of advanced stage malignancies that can compromise quality of life and overall prognosis in a fragile patient population. Endovascular therapy can offer minimally invasive, life-saving maneuvers both acutely and prophylactically. Four patients with end-stage malignancies eroding into various peripheral vascular beds with impending, threatened, and acute VBOS underwent successful endovascular management. Technical success was achieved in all patients with no perioperative morbidity or mortality...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28535619/prevalence-and-incidence-of-osteoporotic-fractures-in-patients-on-long-term-glucocorticoid-treatment-for-rheumatic-diseases-the-glucocorticoid-induced-osteoporosis-tool-giotto-study
#11
M Rossini, O Viapiana, M Vitiello, N Malavolta, G La Montagna, S Maddali Bongi, O Di Munno, R Nuti, C U Manzini, C Ferri, L Bogliolo, A Mathieu, F Cantatore, A Del Puente, M Muratore, W Grassi, B Frediani, G Saviola, P Delvino, L Mirone, G Ferraccioli, G Tripi, I Piazza, D Gatti
Osteoporosis and fractures are common and invalidating consequences of chronic glucorticoid (GC) treatment. Reliable information regarding the epidemiology of GC induced osteoporosis (GIOP) comes exclusively from the placebo group of randomized clinical trials while observational studies are generally lacking data on the real prevalence of vertebral fractures, GC dosage and primary diagnosis. The objective of this study was to evaluate the prevalence and incidence of osteoporotic fractures and to identify their major determinants (primary disease, GC dosage, bone mineral density, risk factors, specific treatment for GIOP) in a large cohort of consecutive patients aged >21 years, on chronic treatment with GC (≥5 mg prednisone - PN - equivalent) and attending rheumatology centers located all over Italy...
May 22, 2017: Reumatismo
https://www.readbyqxmd.com/read/28533886/a-case-management-of-hypertension-in-the-elderly-in-sub-sahara-africa-lessons-from-granny
#12
Ahmadou Musa Jingi, Liliane Mfeukeu Kuate, Jean Jacques Noubiap
Management of chronic disease conditions in the elderly is challenging. They usually have many co-morbidities requiring multiple drug regimens, and memory or cognitive problems that can interfere with management. Also, they sometimes have a degree of social problems as they might often live alone, and thereby cater for their daily activities with minimal assistance. Multiple drug use combined with their fragile health predispose them to adverse drug reactions, drug-drug interactions, and direct drug toxicity from overdosing...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28533625/beneficial-effect-of-interventional-exercise-on-autistic-fragile-x-syndrome
#13
REVIEW
Seunghoon Lee, Jinyoung Won, Sookyoung Park, Sang-Rae Lee, Kyu-Tae Chang, Joo-Heon Kim, Yonggeun Hong
[Purpose] The purpose of the present review is to discuss recent published articles in the understanding of efficacy of interventional exercise on autistic Fragile X syndrome (FXS) with special emphasis on its significance in clinical application in patients. [Methods] This review article was identified scientifically and/or clinically relevant articles from PubMed that directly/indirectly met the inclusion criteria. [Results] Mutation of fragile X mental retardation 1 (fmr1) gene on the X chromosome is related with loss of fragile X mental retardation protein (FMRP) that affecting physiological and behavioral abnormalities...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#14
Cristina Has
A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28532513/barriers-to-utilisation-of-antenatal-care-services-in-south-sudan-a-qualitative-study-in-rumbek-north-county
#15
Calistus Wilunda, Chiara Scanagatta, Giovanni Putoto, Francesca Montalbetti, Giulia Segafredo, Risa Takahashi, Serge André Mizerero, Ana Pilar Betrán
BACKGROUND: Access to adequate antenatal care (ANC) is critical in ensuring a good maternal health and in preventing maternal and neonatal morbidity and mortality. South Sudan has one of the world's poorest health indicators due to a fragile health system and a combination of socio-cultural, economic, and political factors. This study was conducted to identify barriers to utilisation of ANC services in Rumbek North County. METHODS: Using a qualitative design, data were collected through 14 focus group discussions with 169 women and 45 men and 12 key informant interviews with community leaders, staff working in health facilities, and the staff of the County Health Department...
May 22, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28531782/the-financial-burden-of-malnutrition-in-hospitalized-pediatric-patients-under-five-years-of-age
#16
Kulnipa Kittisakmontri, Onwaree Sukhosa
BACKGROUND: Under-five children are a medically fragile group which is compromised by hospitalization. Malnutrition in those patients not only increases complications and mortality but also affects hospital resource utilization. Therefore, this study was conducted to clarify the impact of malnutrition on hospital expenditures. METHODS: This prospective cohort study was performed at a tertiary hospital in Thailand. Under-five children who were admitted to general pediatric wards were included...
October 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28529475/fragile-x-associated-tremor-ataxia-syndrome-from-molecular-pathogenesis-to-development-of-therapeutics
#17
REVIEW
Ha Eun Kong, Juan Zhao, Shunliang Xu, Peng Jin, Yan Jin
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55-200 repeats) within the 5' UTR of the fragile X gene (FMR1). FXTAS is characterized by intension tremor, cerebellar ataxia, progressive neurodegeneration, parkinsonism and cognitive decline. The development of transgenic mouse and Drosophila melanogaster models carrying an expanded CGG repeat has yielded valuable insight into the pathophysiology of FXTAS. To date, we know of two main molecular mechanisms of this disorder: (1) a toxic gain of function of the expanded CGG-repeat FMR1 mRNA, which results in the binding/sequestration of the CGG-binding proteins; and (2) CGG repeat-associated non-AUG-initiated (RAN) translation, which generates a polyglycine peptide toxic to cells...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28528999/clinical-management-of-iron-deficiency-anemia-in-adults-systemic-review-on-advances-in-diagnosis-and-treatment
#18
REVIEW
Lucia De Franceschi, Achille Iolascon, Ali Taher, Maria Domenica Cappellini
Global burden disease studies point out that one of the top cause-specific anemias is iron deficiency (ID). Recent advances in knowledge of iron homeostasis have shown that fragile patients are a new target population in which the correction of ID might impact their morbidity, mortality and quality of life. We did a systematic review using specific search strategy, carried out the review of PubMed database, Cochrane Database of systemic reviews and international guidelines on diagnosis and clinical management of ID from 2010 to 2016...
May 18, 2017: European Journal of Internal Medicine
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
#19
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
#20
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
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