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https://www.readbyqxmd.com/read/29333915/gaze-avoidance-and-perseverative-language-in-fragile-x-syndrome-and-autism-spectrum-disorder-brief-report
#1
Laura Friedman, Audra Sterling, Andrea Barton-Hulsey
Gaze avoidance and perseverative language impact pragmatics in autism spectrum disorder (ASD) and fragile X syndrome (FXS). We examined these features during conversation samples in boys with ASD (n = 10) and boys with FXS and ASD (FXS+ASD; n = 10). Both groups had similar high rates of gaze avoidance and topic and conversation device perseverations, yet these features were not correlated with one another. Boys with FXS+ASD produced a higher proportion of single utterance perseverations. Results from this study highlight the need for future research to identify potential mechanisms influencing the presence of language perseverations and gaze avoidance...
January 15, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29333578/insulin-resistance-and-bone-a-biological-partnership
#2
Caterina Conte, Solomon Epstein, Nicola Napoli
Despite a clear association between type 2 diabetes (T2D) and fracture risk, the pathogenesis of bone fragility in T2D has not been clearly elucidated. Insulin resistance is the primary defect in T2D. Insulin signalling regulates both bone formation and bone resorption, but whether insulin resistance can affect bone has not been established. On the other hand, evidence exists that bone might play a role in the regulation of glucose metabolism. This article reviews the available experimental and clinical evidence on the interplay between bone and insulin resistance...
January 15, 2018: Acta Diabetologica
https://www.readbyqxmd.com/read/29333043/picroside-i-and-picroside-ii-from-tissue-cultures-of-picrorhiza-kurroa
#3
Yamjala Ganeshkumar, Ajmera Ramarao, Ciddi Veeresham
Background: Picrorhiza kurroa (PK) belongs to Scrophulariaceae family and is a representative endemic, medicinal herb, widely distributed throughout the higher altitudes of alpine Himalayas from west to east, between 3000 and 4500 m above mean sea level. Objective: The objective of the present study is to assess the production of picroside I and picroside II from tissue cultures of PK. Materials and Methods: Auxiliary shoot tips of PK were incubated in Murashige and Skoog medium supplemented with indole-3-butyric acid and kinetin phytohormones...
December 2017: Pharmacognosy Research
https://www.readbyqxmd.com/read/29332407/nutritional-deficiency-during-colonoscopy-preparation-the-forgotten-iatrogeny
#4
Gonçalo Nunes, Ana Teresa Barata, Carla Adriana Santos, Marta Patita, Jorge Fonseca
BACKGROUND AND AIMS: Bowel preparation for colonoscopy induces a semi-fasting state, with a potential negative impact on fragile patients. The present study aims to quantify nutritional deficiency during colonoscopy preparation. METHODS: This was an observational and cross-sectional study. A convenience sample was obtained that included adults that underwent colonoscopy after bowel preparation with Klean-Prep® according to the center protocol. Anthropometric evaluation was performed and nutritional deficiency was calculated via the quantification of energy and protein intake during the 48 hours prior to the examination which was compared with the individuals' needs...
January 15, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29331300/cigarette-smoking-and-hip-volumetric-bone-mineral-density-and-cortical-volume-loss-in-older-adults-the-ages-reykjavik-study
#5
Elisa A Marques, Martine Elbejjani, Vilmundur Gudnason, Gunnar Sigurdsson, Thomas Lang, Sigurdur Sigurdsson, Thor Aspelund, Kristin Siggeirsdottir, Lenore Launer, Gudny Eiriksdottir, Tamara B Harris
This study aimed to explore the relationships of several indicators of cigarette smoking habits (smoking status, pack-years, age at smoking initiation and smoking cessation) with quantitative computed tomographic (QCT)-derived proximal femur bone measures (trabecular vBMD, integral vBMD and the ratio of cortical to total tissue volume (cvol/ivol)) and with subsequent change in these measures over the next five years. A total of 2673 older adults (55.9% women), aged 66-92 years at baseline from the Age, Gene/Environment Susceptibility (AGES)-Reykjavik Study, who had two QCT scans of the hip were studied...
January 10, 2018: Bone
https://www.readbyqxmd.com/read/29330421/premature-recruitment-of-oocyte-pool-and-increased-mtor-activity-in-fmr1-knockout-mice-and-reversal-of-phenotype-with-rapamycin
#6
E Mok-Lin, M Ascano, A Serganov, Z Rosenwaks, T Tuschl, Z Williams
While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known. Here, we studied the ovarian and reproductive phenotypes in an Fmr1 knockout (KO) mouse model and the role of mammalian target of rapamycin (mTOR) signaling. Breeding, histologic and mTOR signaling data were obtained at multiple time points in KO and wild type (WT) mice fed a control or rapamycin (mTOR inhibitor) diet...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329713/baseline-and-pre-operative-1-year-mortality-risk-factors-in-a-cohort-of-509-hip-fracture-patients-consecutively-admitted-to-a-co-managed-orthogeriatric-unit-fonda-cohort
#7
Rocío Menéndez-Colino, Teresa Alarcon, Pilar Gotor, Rocío Queipo, Raquel Ramírez-Martín, Angel Otero, Juan I González-Montalvo
INTRODUCTION: The aim of this study was to determine the patient characteristics that predict 1-year mortality after a hip fracture (HF). METHODS: All patients admitted consecutively with fragility HF during 1 year in a co-managed orthogeriatric unit of a university hospital (FONDA cohort) were assesed. Baseline and admission demographic, clinical, functional, analytical and body-composition variables were collected in the first 72 h after admission. A protocol designed to minimize the consequences of the HF was applied...
January 6, 2018: Injury
https://www.readbyqxmd.com/read/29329484/effects-of-teriparatide-compared-with-risedronate-on-the-risk-of-fractures-in-subgroups-of-postmenopausal-women-with-severe-osteoporosis-the-vero-trial
#8
Piet Geusens, Fernando Marin, David L Kendler, Luis A Russo, Cristiano A F Zerbini, Salvatore Minisola, Jean Jacques Body, Eric Lespessailles, Susan L Greenspan, Alicia Bagur, Jan J Stepan, Péter Lakatos, Enrique Casado, Rüdiger Moericke, Pedro López-Romero, Astrid Fahrleitner-Pammer
The 2-year, randomized, double-blind, active-controlled fracture endpoint VERO study included postmenopausal women with established osteoporosis, who had at least 2 moderate or 1 severe baseline vertebral fractures (VFx), and BMD T-score ≤-1.5. Patients were treated with either s.c. daily teriparatide 20 μg or oral weekly risedronate 35 mg. As previously reported, the risk of new VFx and clinical fractures (a composite of clinical VFx and non vertebral fragility fractures [NVFFx]) was statistically significantly reduced with teriparatide compared with risedronate...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#9
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29328545/computer-simulation-elucidates-yeast-flocculation-and-sedimentation-for-efficient-industrial-fermentation
#10
Chen-Guang Liu, Zhi-Yang Li, Yue Hao, Juan Xia, Feng-Wu Bai, Muhammad Aamer Mehmood
Flocculation plays an important role in the immobilized fermentation of biofuels and biochemicals. It is essential to understand the flocculation phenomenon at physical and molecular scale; however, flocs can't be studied directly due to fragile nature. Hence, the present study was focused on the morphological specificities of yeast flocs formation and sedimentation via the computer simulation by a single floc growth model, based on Diffusion-Limited Aggregation (DLA) model. The impact of shear force, adsorption, and cell propagation on porosity and floc size was systematically illustrated...
January 12, 2018: Biotechnology Journal
https://www.readbyqxmd.com/read/29327083/r-loops-targets-for-nuclease-cleavage-and-repeat-instability
#11
REVIEW
Catherine H Freudenreich
R-loops form when transcribed RNA remains bound to its DNA template to form a stable RNA:DNA hybrid. Stable R-loops form when the RNA is purine-rich, and are further stabilized by DNA secondary structures on the non-template strand. Interestingly, many expandable and disease-causing repeat sequences form stable R-loops, and R-loops can contribute to repeat instability. Repeat expansions are responsible for multiple neurodegenerative diseases, including Huntington's disease, myotonic dystrophy, and several types of ataxias...
January 11, 2018: Current Genetics
https://www.readbyqxmd.com/read/29326902/low-intensity-training-provokes-adaptive-extracellular-matrix-turnover-of-a-muscular-dystrophy-model
#12
Thaís P Gaiad, Murilo X Oliveira, Adalfredo R Lobo, Lívia R Libório, Priscilla A F Pinto, Danielle C Fernandes, Ana Paula Santos, Carlos Eduardo Ambrósio, Alex Sander D Machado
Recommendations of therapeutic exercise in Duchenne muscular dystrophy are still controversial. The hypothesis that a low-intensity training (LIT) protocol leads to muscle adaptations on mdx mice model was tested. Dystrophic male mice with 8 weeks old were separated in exercised (mdxE, n= 8) and sedentary (mdxC, n= 8) groups. Wild-type mice were used as control (WT, n= 8) group. Exercised group underwent a LIT protocol (9 m/min, 30 min, 3 days/wk, 60 days) on a horizontal treadmill. At day 60 all animals were analyzed regarding parameters of markers of muscle lesion and extracellular matrix turnover of muscle tissue by collagens fibers on tibial anterior muscle...
December 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/29326825/staphylococcal-scalded-skin-syndrome-a-pediatric-dermatology-case-report
#13
Girish Gulab Meshram, Neeraj Kaur, Kanwaljeet Singh Hura
Staphylococcal scalded skin syndrome is a condition which predominantly affects children and causes a spectrum of skin lesions. We present a case of a 2-month-old infant with complaints of fever and fragile blisters over the body. The mucosal areas were spared. The diagnosis of staphylococcal scalded skin syndrome was reached on clinical grounds and culture report. The patient responded well to the treatment, which included an antibiotic (cloxacillin), an analgesic (paracetamol), and hydration with intravenous fluids...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#14
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29326176/combinatorial-omics-analysis-reveals-perturbed-lysosomal-homeostasis-in-collagen-vii-deficient-keratinocytes
#15
Kerstin Thriene, Björn Andreas Grüning, Olivier Bornert, Anika Erxleben, Juna Leppert, Ioannis Athanasiou, Ekkehard Weber, Dimitra Kiritsi, Alexander Nyström, Thomas Reinheckel, Rolf Backofen, Cristina Has, Leena Bruckner-Tuderman, Joern Dengjel
The extracellular matrix protein collagen VII is part of the microenvironment of stratified epithelia and critical in organismal homeostasis. Mutations in the encoding gene COL7A1 lead to the skin disorder dystrophic epidermolysis bullosa (DEB), are linked to skin fragility and progressive inflammation-driven fibrosis that facilitates aggressive skin cancer. So far, these changes have been linked to mesenchymal alterations, the epithelial consequences of collagen VII loss remaining under-addressed. As epithelial dysfunction is a principal initiator of fibrosis, we performed a comprehensive transcriptome and proteome profiling of primary human keratinocytes to generate global and detailed images of dysregulated epidermal molecular pathways linked to loss of collagen VII...
January 11, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29325955/endovascular-patch-embolization-for-blood-blister-like-aneurysms-in-the-dorsal-segment-of-the-internal-carotid-artery
#16
Xudong Hao, Guilin Li, Jian Ren, Jingwei Li, Chuan He, Hong-Qi Zhang
OBJECTIVE: Blood blister-like aneurysms (BBAs) in the dorsal segment of the internal carotid artery (ICA) are fragile and difficult to treat, and the optimal treatment for BBAs is still controversial. We report clinical and angiographic results with procedural details for the treatment of BBA by using the endovascular patch embolization method. METHODS: We retrospectively reviewed patients who presented with subarachnoid hemorrhage(SAH) caused by ICA-BBAs and were treated with the endovascular patch embolization method in our center from October 2011 to March 2015...
January 8, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#17
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#18
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323312/test-climate-targets-using-fragile-ecosystems
#19
Ignacio Palomo
No abstract text is available yet for this article.
January 11, 2018: Nature
https://www.readbyqxmd.com/read/29322222/urinary-pentosidine-levels-negatively-associates-with-trabecular-bone-scores-in-patients-with-type-2-diabetes-mellitus
#20
Y J Choi, S Y Ock, Y Jin, J S Lee, S H Kim, Y -S Chung
Pentosidine levels were higher in diabetic patients with vertebral fractures. Trabecular bone scores were negatively associated with pentosidine levels in diabetic patients only. Our results provide further evidence that AGEs are associated with the pathogenesis of bone fragility in patients with T2DM. INTRODUCTION: Type 2 diabetes mellitus (T2DM) is associated with fracture risk. Pentosidine, an advanced glycation end product (AGE), is associated with prevalent vertebral fractures (VFs) in patients with T2DM...
January 10, 2018: Osteoporosis International
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