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https://www.readbyqxmd.com/read/28817785/diving-into-the-world-of-alcohol-teratogenesis-a-review-of-zebrafish-models-of-fetal-alcohol-spectrum-disorders
#1
Yohaan Fernandes, Desirè M Buckley, Johann K Eberhart
Fetal alcohol spectrum disorders (FASD) refer to the entire suite of deleterious outcomes resulting from embryonic alcohol exposure. Along with other reviews in this edition, we provide insight into how animal models, specifically the zebrafish; have informed our understanding of FASD. We first provide a brief introduction to FASD. We discuss the zebrafish as a model organism and its strengths for alcohol research. We detail how zebrafish has been used to model some of the major defects present in FASD. These include behavioral defects, such as social behavior as well as learning and memory, and structural defects, disrupting organs such as the brain, sensory organs, heart and craniofacial skeleton...
August 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28817611/the-directed-migration-of-gonadal-distal-tip-cells-in-caenorhabditis-elegans-requires-ngat-1-a-%C3%A3-1-4-n-acetylgalactosaminyltransferase-enzyme
#2
Joseph Veyhl, Robert J Dunn, Wendy L Johnston, Alexa Bennett, Lijia W Zhang, James W Dennis, Harry Schachter, Joseph G Culotti
Glycoproteins such as growth factor receptors and extracellular matrix have well-known functions in development and cancer progression, however, the glycans at sites of modification are often heterogeneous molecular populations which makes their functional characterization challenging. Here we provide evidence for a specific, discrete, well-defined glycan modification and regulation of a stage-specific cell migration in Caenorhabditis elegans. We show that a chain-terminating, putative null mutation in the gene encoding a predicted β1,4-N-acetylgalactosaminyltransferase, named ngat-1, causes a maternally rescued temperature sensitive (ts) defect in the second phase of the three phase migration pattern of the posterior, but not the anterior, hermaphrodite Distal Tip Cell (DTC)...
2017: PloS One
https://www.readbyqxmd.com/read/28817414/systematic-selection-of-key-logistic-regression-variables-for-risk-prediction-analyses-a-five-factor-maximum-model
#3
Timothy E Hewett, Kate E Webster, Wendy J Hurd
GENERAL AND CRITICAL REVIEW FORMAT: The evolution of clinical practice and medical technology has yielded an increasing number of clinical measures and tests to assess a patient's progression and return to sport readiness after injury. The plethora of available tests may be burdensome to clinicians in the absence of evidence that demonstrates the utility of a given measurement. OBJECTIVE: Thus, there is a critical need to identify a discrete number of metrics to capture during clinical assessment to effectively and concisely guide patient care...
August 16, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28817236/a-new-cul4b-variant-associated-with-a-mild-phenotype-and-an-exceptional-pattern-of-leukoencephalopathy
#4
Susann Weissbach, Marie-Christine Reinert, Janine Altmüller, Ralph Krätzner, Holger Thiele, Thorsten Rosenbaum, Peter Nürnberg, Jutta Gärtner
Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28817078/measurement-of-the-verdet-constant-of-polarization-maintaining-air-core-photonic-bandgap-fiber
#5
Ningfang Song, Xiaoyang Wang, Xiaobin Xu, Wei Cai, Chunxiao Wu
We propose a method based on the white-light interference technique for measuring the Verdet constant of a polarization-maintaining air-core photonic bandgap fiber (PM-PBF). The experimental results show that the Verdet constant of the PM-PBF is ~3.3 mrad/T/m for the broadband light with a spectral width of ~38 nm and a mean wavelength of ~1550 nm, which is ~124 times less than that of a conventional stress-induced birefringent fibers called PANDA fibers (~0.41 rad/T/m for the same broad-spectrum light). The results indicate that the nonreciprocal error induced by the Faraday effect in a fiber optic gyroscope (FOG) made of the PM-PBF is theoretically ~25 times less than that of a conventional FOG made of the PANDA fiber when other conditions, such as the fiber twist, fiber coil area, and so on, are the same...
August 17, 2017: Sensors
https://www.readbyqxmd.com/read/28816917/factors-associated-with-developmental-behavioral-pediatricians-prescribing-psychotropic-medication-to-children-with-autism-spectrum-disorder-a-study-of-three-dbpnet-sites
#6
Carissa Jackel, Justine Shults, Susan Wiley, Jareen Meinzen-Derr, Marilyn Augustyn, Nathan Blum
OBJECTIVE: Psychotropic medications are frequently prescribed to children with autism spectrum disorder (ASD), but little is known about the prescribing practices of developmental-behavioral pediatricians (DBPs). Our objective was to determine whether clinical site, age, insurance, or comorbidities influenced DBPs prescribing psychotropic medication for children with ASD. METHODS: A retrospective analysis was performed using electronic health record data of all patients with ASD seen at 3 academic developmental-behavioral pediatrics (DBP) clinical programs from January 2010 to December 2011...
August 10, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816870/spinal-cord-injury-what-are-the-controversies
#7
Christopher S Ahuja, Gregory D Schroeder, Alexander R Vaccaro, Michael G Fehlings
Traumatic spinal cord injuries have a tremendous impact on individuals, families, and society as a whole. Substantial heterogeneity in the patient population, their presentation and underlying pathophysiology has sparked debates along the care spectrum from initial assessment to definitive treatment. This article reviews spinal cord injury (SCI) management followed by a discussion of the salient controversies in the field. Current care practices modeled on the American Association of Neurological Surgeons/Congress of Neurological Surgeons joint section guidelines are highlighted including key recommendations regarding immobilization, avoidance of hypotension, early International Standards for Neurological Classification of SCI examination and intensive care unit treatment...
September 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28816694/evaluation-of-hearing-handicap-in-adults-with-auditory-neuropathy-spectrum-disorder
#8
Prashanth Prabhu
OBJECTIVE: The present study attempted to evaluate hearing handicap in adults with auditory neuropathy spectrum disorder (ANSD). The study also attempted to determine if gender, pure tone average, speech identification scores (SIS), and reported duration of hearing loss could predict the hearing handicap in adults with ANSD. MATERIALS AND METHODS: Hearing Handicap Inventory for Adults and Hearing Handicap Questionnaire were administered to 50 adults with ANSD. RESULTS: Using both the scales, there was a significant hearing handicap in both the social and emotional domains in adults with ANSD...
August 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28816587/dna-methylation-independent-growth-restriction-and-altered-developmental-programming-in-a-mouse-model-of-preconception-male-alcohol-exposure
#9
Richard C Chang, William M Skiles, S Chronister Sarah, Haiqing Wang, Gabrielle I Sutton, Yudhishtar S Bedi, Matthew Snyder, Charles R Long, Michael C Golding
The preconception environment is a significant modifier of dysgenesis and the development of environmentally-induced disease. To date, Fetal Alcohol Spectrum Disorders (FASDs) have been exclusively associated with maternal exposures, yet emerging evidence suggests male-inherited alterations in the developmental program of sperm may be relevant to the growth-restriction phenotypes of this condition. Using a mouse model of voluntary consumption, we find chronic preconception male ethanol exposure associates with fetal growth restriction, decreased placental efficiency, abnormalities in cholesterol trafficking, sex-specific alterations in the genetic pathways regulating hepatic fibrosis, and disruptions in the regulation of imprinted genes...
August 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28816489/the-path-to-an-autism-spectrum-disorders-diagnosis-in-ethiopia-parent-perspective
#10
Waganesh A Zeleke, Tammy Hughes, Morgan Chitiyo
This study explores the common characteristics of children with autism spectrum disorders (ASDs) and the available diagnostic and intervention currently practiced for children with ASDs in Ethiopia based on parents' experience. Data gathered from 100 parents in Ethiopia detail the difficulties families face when they suspect their child has an autism spectrum disorder (ASD). The data indicate Ethiopian parents pursued a diagnosis of ASD after noting common ASD behaviors such as hand flapping and unusual attachments to objects...
August 17, 2017: American Journal of Orthopsychiatry
https://www.readbyqxmd.com/read/28816451/palladium-catalyzed-cascade-assembly-of-tricyclic-spiroethers-from-diene-alcohol-precursors
#11
David Lankri, Yelena Mostinski, Dmitry Tsvelikhovsky
Palladium-catalyzed carboetherification-Heck reactions to form tricyclic spiroethers, which are frequently observed as scaffold segments of various biochemical compounds, from simple diene-alcohols have been carried out in a cascade fashion. This is the first attempt to link simple alcohols with diverse, medium-sized spiroether architectures. The reported synthetic strategy is short, robust, and offers rapid delivery of a broad spectrum of tricyclic spiranoid ethers.
August 17, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#12
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816398/optical-properties-of-mice-s-stool-in-550-1000-nm-wavelength-range
#13
Helene Isler, Catherine Germanier, Linda Ahnen, Jingjing Jiang, Scott Lindner, Aldo Di Costanzo Mata, Tanja Karen, Salvador Sánchez Majos, Martin Wolf, Alexander Kalyanov
The aim of this work was to measure optical properties of stool of mice to provide this relevant wavelength-dependent behavior for optical imaging modalities such as fluorescent molecular tomography and near-infrared optical tomography. BALB/c nude female mice were studied and optical properties of the stool were determined by employing the inverse adding-doubling approach. The animals were kept on chlorophyll-free diet. Nine stool samples were measured. The wavelength-dependent behavior of absorption and scattering in 550-1000 nm range is presented...
August 17, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28816234/novel-mutations-of-tcirg1-cause-a-malignant-and-mild-phenotype-of-autosomal-recessive-osteopetrosis-aro-in-four-chinese-families
#14
Xiao-Ya Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, PLEKHM1) were also found to be associated with human ARO. In order to expand the mutation spectrum and clinical diversity for a better understanding of the ARO phenotype and to further investigate the clinical characteristics of benign subjects with ARO, we here report five individuals with ARO from four unrelated Chinese families...
August 17, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28816204/deep-band-modulated-phrase-perception-in-quiet-and-noise-in-individuals-with-auditory-neuropathy-spectrum-disorder-and-sensorineural-hearing-loss
#15
Hemanth Narayan Shetty, Vishal Kooknoor
CONTEXT: Deep band modulation (DBM) improves speech perception in individuals with learning disability and older adults, who had temporal impairment in them. However, it is unclear on perception of DBM phrases at quiet and noise conditions in individuals with auditory neuropathy spectrum disorder (ANSD) and sensorineural hearing loss (SNHL), as these individuals suffer from temporal impairment. AIM: The aim is to study the effect of DBM and noise on phrase perception in individuals with normal hearing, SNHL, and ANSD...
July 2017: Noise & Health
https://www.readbyqxmd.com/read/28816190/comparison-between-color-spaces-of-vita-lumin-shade-guide-with-natural-teeth-in-bengaluru-population-using-spectrocolorimeter-an-in-vivo-study
#16
Rohit M Shetty, Adarsh N Bhat, Nishant Gupta, Deepak Mehta, Gopalakrishna Srivatsa, Ipsha Singh
AIM: The aim of this study is to compare the color space of Vita Lumin shade guide (SG) with the natural teeth of the local population. MATERIALS AND METHODS: A total of 100 maxillary central incisors (100 patients) were subjected to color measurement with a spectrocolorimeter. For each tooth, L*, a*, b* values were recorded. All the shade tabs of Vita Lumin SG were analyzed with a spectrocolorimeter to define the color space covered by the Vita Lumin SG. The L*a*b* values of natural teeth were plotted on separate scattered diagrams and compared...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28816060/the-broad-spectrum-antimicrobial-potential-of-mn-co-4-s2cnme-ch2co2h-a-water-soluble-co-releasing-molecule-corm-401-intracellular-accumulation-transcriptomic-and-statistical-analyses-and-membrane-polarization
#17
Lauren Katie Wareham, Samantha McLean, Ronald Begg, Namrata Rana, Salar Ali, John J Kendall, Guido Sanguinetti, Brian E Mann, Robert K Poole
AIMS: Carbon monoxide (CO)-releasing molecules (CORMs) are candidates for animal and antimicrobial therapeutics. We aimed to probe the antimicrobial potential of a novel manganese CORM. RESULTS: [Mn(CO)4S2CNMe(CH2CO2H)], CORM-401, inhibits growth of Escherichia coli and several antibiotic-resistant clinical pathogens. CORM-401 releases CO that binds oxidases in vivo but is an ineffective respiratory inhibitor. Extensive CORM accumulation (assayed as intracellular manganese) accompanies antimicrobial activity...
August 17, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#18
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815985/sticking-with-it-psychotherapy-outcomes-for-adults-with-autism-spectrum-disorder-in-a-university-counseling-center-setting
#19
Emily Anderberg, Jonathan C Cox, E Shannon Neeley Tass, David M Erekson, Terisa P Gabrielsen, Jared S Warren, Jared Cline, Devin Petersen, Mikle South
Young adults with autism spectrum disorders (ASD) experience high rates of comorbid mental health concerns in addition to distress arising from the core symptoms of autism. Many adults with ASD seek psychological treatment in outpatient facilities in their communities that are not specifically geared toward individuals with ASD. However, few studies have looked at the effectiveness of standard psychotherapeutic care in adults with ASD. This study aimed to discover how individuals with ASD fare in psychotherapy within a college counseling setting, compared to their neurotypical peers...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815954/diaphanospondylodysostosis-and-ischiospinal-dysostosis-evidence-for-one-disorder-with-variable-expression-in-a-patient-who-has-survived-to-age-9-years
#20
Janet M Legare, Kristin Seaborg, Jennifer Laffin, Philip F Giampietro
Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process...
August 17, 2017: American Journal of Medical Genetics. Part A
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