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https://www.readbyqxmd.com/read/28547827/digital-dissection-of-the-model-organism-xenopus-laevis-using-contrast-enhanced-computed-tomography
#1
Laura B Porro, Christopher T Richards
The African clawed frog, Xenopus laevis, is one of the most widely used model organisms in biological research. However, the most recent anatomical description of X. laevis was produced nearly a century ago. Compared with other anurans, pipid frogs - including X. laevis - exhibit numerous unusual morphological features; thus, anatomical descriptions of more 'typical' frogs do not detail many aspects of X. laevis skeletal and soft-tissue morphology. The relatively new method of using iodine-based agents to stain soft tissues prior to high-resolution X-ray imaging has several advantages over gross dissection, such as enabling dissection of very small and fragile specimens, and preserving the three-dimensional topology of anatomical structures...
May 26, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28546877/amino-acid-medical-foods-provide-a-high-dietary-acid-load-and-increase-urinary-excretion-of-renal-net-acid-calcium-and-magnesium-compared-with-glycomacropeptide-medical-foods-in-phenylketonuria
#2
Bridget M Stroup, Emily A Sawin, Sangita G Murali, Neil Binkley, Karen E Hansen, Denise M Ney
Background. Skeletal fragility is a complication of phenylketonuria (PKU). A diet containing amino acids compared with glycomacropeptide reduces bone size and strength in mice. Objective. We tested the hypothesis that amino acid medical foods (AA-MF) provide a high dietary acid load, subsequently increasing urinary excretion of renal net acid, calcium, and magnesium, compared to glycomacropeptide medical foods (GMP-MF). Design. In a crossover design, 8 participants with PKU (16-35 y) provided food records and 24-hr urine samples after consuming a low-Phe diet in combination with AA-MF and GMP-MF for 1-3 wks...
2017: Journal of Nutrition and Metabolism
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/28536925/parental-perspectives-on-pharmacological-clinical-trials-a-qualitative-study-in-down-syndrome-and-fragile-x-syndrome
#5
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
#6
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/28533625/beneficial-effect-of-interventional-exercise-on-autistic-fragile-x-syndrome
#7
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/28529475/fragile-x-associated-tremor-ataxia-syndrome-from-molecular-pathogenesis-to-development-of-therapeutics
#8
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/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#9
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/28523560/stem-cell-technology-for-epi-genetic-brain-disorders
#10
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/28522374/population-pharmacokinetics-of-nnz-2566-in-healthy-subjects
#11
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/28516425/a-screening-tool-to-measure-eye-contact-avoidance-in-boys-with-fragile-x-syndrome
#12
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/28509881/dfmr1-plays-roles-in-small-rna-pathways-of-drosophila-melanogaster
#13
REVIEW
Valeria Specchia, Simona D'Attis, Antonietta Puricella, Maria Pia Bozzetti
Fragile-X syndrome is the most common form of inherited mental retardation accompanied by other phenotypes, including macroorchidism. The disorder originates with mutations in the Fmr1 gene coding for the FMRP protein, which, with its paralogs FXR1 and FXR2, constitute a well-conserved family of RNA-binding proteins. Drosophila melanogaster is a good model for the syndrome because it has a unique fragile X-related gene: dFmr1. Recently, in addition to its confirmed role in the miRNA pathway, a function for dFmr1 in the piRNA pathway, operating in Drosophila gonads, has been established...
May 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28504725/metformin-ameliorates-core-deficits-in-a-mouse-model-of-fragile-x-syndrome
#14
Ilse Gantois, Arkady Khoutorsky, Jelena Popic, Argel Aguilar-Valles, Erika Freemantle, Ruifeng Cao, Vijendra Sharma, Tine Pooters, Anmol Nagpal, Agnieszka Skalecka, Vinh T Truong, Shane Wiebe, Isabelle A Groves, Seyed Mehdi Jafarnejad, Clément Chapat, Elizabeth A McCullagh, Karine Gamache, Karim Nader, Jean-Claude Lacaille, Christos G Gkogkas, Nahum Sonenberg
Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders (ASD). Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leading to hyperactivation of ERK and mTOR signaling upstream of mRNA translation. Here we show that metformin, the most widely used drug for type 2 diabetes, rescues core phenotypes in Fmr1(-/y) mice and selectively normalizes ERK signaling, eIF4E phosphorylation and the expression of MMP-9. Thus, metformin is a potential FXS therapeutic.
May 15, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28503363/focused-ultrasound-for-essential-tremor-review-of-the-evidence-and-discussion-of-current-hurdles
#15
REVIEW
Mohammad Rohani, Alfonso Fasano
BACKGROUND: While there is no breakthrough progress in the medical treatment of essential tremor (ET), in the past decades several remarkable achievements happened in the surgical field, such as radiofrequency thalamotomy, thalamic deep brain stimulation, and gamma knife thalamotomy. The most recent advance in this area is magnetic resonance-guided focused ultrasound (MRgFUS). METHODS: The purpose of this review is to discuss the new developments and trials of MRgFUS in the treatment of ET and other tremor disorders...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28499489/neuronal-pas-domain-proteins-1-and-3-are-master-regulators-of-neuropsychiatric-risk-genes
#16
Jacob J Michaelson, Min-Kyoo Shin, Jin-Young Koh, Leo Brueggeman, Angela Zhang, Aaron Katzman, Latisha McDaniel, Mimi Fang, Miles Pufall, Andrew A Pieper
BACKGROUND: NPAS3 has been established as a robust genetic risk factor in major mental illness. In mice, loss of neuronal PAS domain protein 3 (NPAS3) impairs postnatal hippocampal neurogenesis, while loss of the related protein NPAS1 promotes it. These and other findings suggest a critical role for NPAS proteins in neuropsychiatric functioning, prompting interest in the molecular pathways under their control. METHODS: We used RNA sequencing coupled with chromatin immunoprecipitation sequencing to identify genes directly regulated by NPAS1 and NPAS3 in the hippocampus of wild-type, Npas1(-/-), and Npas3(-/-) mice...
April 6, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28497783/bliss-is-a-versatile-and-quantitative-method-for-genome-wide-profiling-of-dna-double-strand-breaks
#17
Winston X Yan, Reza Mirzazadeh, Silvano Garnerone, David Scott, Martin W Schneider, Tomasz Kallas, Joaquin Custodio, Erik Wernersson, Yinqing Li, Linyi Gao, Yana Federova, Bernd Zetsche, Feng Zhang, Magda Bienko, Nicola Crosetto
Precisely measuring the location and frequency of DNA double-strand breaks (DSBs) along the genome is instrumental to understanding genomic fragility, but current methods are limited in versatility, sensitivity or practicality. Here we present Breaks Labeling In Situ and Sequencing (BLISS), featuring the following: (1) direct labelling of DSBs in fixed cells or tissue sections on a solid surface; (2) low-input requirement by linear amplification of tagged DSBs by in vitro transcription; (3) quantification of DSBs through unique molecular identifiers; and (4) easy scalability and multiplexing...
May 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28484993/hip-fracture-pattern-at-a-major-tanzanian-referral-hospital-focus-on-fragility-hip-fractures
#18
Munyaradzi Tsabasvi, Sonya Davey, Rogers Temu
This study examined hip fractures during a 5-year period at Kilimanjaro Christian Medical Center (KCMC). There was a general increase in proportions of fragility hip fractures during this period. PURPOSE: Fragility hip fractures are expected to increase in low-resource countries. This study examined hip fractures in the osteoporotic age group during a 5-year period at the Kilimanjaro Christian Medical Center (KCMC), which is located in Moshi, Tanzania. METHODS: We conducted a retrospective study of all hip fracture patients above the age of 50 who were admitted to KCMC between January 1, 2011 and December 31, 2015...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28482641/bryostatin-effects-on-cognitive-function-and-pkc%C3%A9-in-alzheimer-s-disease-phase-iia-and-expanded-access-trials
#19
Thomas J Nelson, Miao-Kun Sun, Chol Lim, Abhik Sen, Tapan Khan, Florin V Chirila, Daniel L Alkon
Bryostatin 1, a potent activator of protein kinase C epsilon (PKCɛ), has been shown to reverse synaptic loss and facilitate synaptic maturation in animal models of Alzheimer's disease (AD), Fragile X, stroke, and other neurological disorders. In a single-dose (25 μg/m2) randomized double-blind Phase IIa clinical trial, bryostatin levels reached a maximum at 1-2 h after the start of infusion. In close parallel with peak blood levels of bryostatin, an increase of PBMC PKCɛ was measured (p = 0.0185) within 1 h from the onset of infusion...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28476762/white-matter-microstructure-cognition-and-molecular-markers-in-fragile-x-premutation-females
#20
Annie L Shelton, Kim M Cornish, David Godler, Quang Minh Bui, Scott Kolbe, Joanne Fielding
OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed...
May 5, 2017: Neurology
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