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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149081/-19-f-nmr-diastereotopic-signals-in-two-n-chf%C3%A2-derivatives-of-4s-7r-7-8-8-trimethyl-4-5-6-7-tetrahydro-4-7-methano-2h-indazole
#2
Diana García-Pérez, Concepción López, Rosa M Claramunt, Ibon Alkorta, José Elguero
In this paper, we report the anisochrony of the fluorine atoms of a CHF₂ group when linked to a pyrazole ring. The pyrazole is part of (4S,7R)-7,8,8-trimethyl-4,5,6,7-tetrahydro-4,7-methano-2H-indazole also known as (4S,7R)-campho[2,3-c]pyrazole, which has two stereogenic centers. Gauge-Independent Atomic Orbital (GIAO)/Becke, 3-parameter, Lee-Yang-Parr (B3LYP)/6-311++G(d,f) calculated (19)F chemical shifts of the minimum energy conformations satisfactorily agree with the experimental data. The energy differences between minima need to consider solvent effects (continuum model) to be satisfactorily reproduced...
November 17, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29148642/rare-co-existence-of-coronary-anomalies-anomaly-of-origin-and-distribution-together-with-anomaly-of-intrinsic-coronary-artery-anomaly
#3
Abraha Hailu, Diana Chin, Carmine Musto, Rosario Fiorilli, Roberto Violini
We describe a 63 year old Romanian female patient admitted to our institution with complaints of typical angina and a diagnosis of non ST-elevation myocardial infarction. Coronary arteriography unveiled anomalous origin of a left circumflex coronary artery from the right coronary sinus of Valsalva near the right coronary ostium and a hyperdominant left anterior descending coronary artery giving off a posterior descending coronary artery with small distal-posterolateral left ventricular branch. The co-existence of a left circumflex coronary artery originating ectopically from the right sinus of Valsalva together with a posterior descending coronary artery originating from the distal end of the anterior descending artery is important to keep in mind especially by those doing coronary angiography in the cardiac catheterization laboratory...
January 2017: Ethiopian Medical Journal
https://www.readbyqxmd.com/read/29148426/stabilization-and-structural-analysis-of-a-membrane-associated-hiapp-aggregation-intermediate
#4
Diana C Rodriguez Camargo, Kyle J Korshavn, Alexander Jussupow, Kolio Raltchev, David Goricanec, Markus Fleisch, Riddhiman Sarkar, Kai Xue, Michaela Aichler, Gabriele Mettenleiter, Axel Karl Walch, Carlo Camilloni, Franz Hagn, Bernd Reif, Ayyalusamy Ramamoorthy
Membrane-assisted amyloid formation is implicated in human diseases, and many of the aggregating species accelerate amyloid formation and induce cell death. While structures of membrane-associated intermediates would provide tremendous insights into the pathology and aid in the design of compounds to potentially treat the diseases, it has not been feasible to overcome the challenges posed by the cell membrane. Here we use NMR experimental constraints to solve the structure of a type-2 diabetes related human islet amyloid polypeptide intermediate stabilized in nanodiscs...
November 17, 2017: ELife
https://www.readbyqxmd.com/read/29147589/%C3%AE-%C3%AE-t-cell-acute-lymphoblastic-leukemia-lymphoma-discussion-of-two-pediatric-cases-and-its-distinction-from-other-mature-%C3%AE-%C3%AE-t-cell-malignancies
#5
Eric X Wei, Vasiliki Leventaki, John K Choi, Susana C Raimondi, Elizabeth M Azzato, Sheila A Shurtleff, Menchu G Ong, Diana M Veillon, James D Cotelingam, Rodney E Shackelford
Gamma delta (γδ) T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in γδ T-ALL...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29146773/glyoxal-as-an-alternative-fixative-to-formaldehyde-in-immunostaining-and-super-resolution-microscopy
#6
Katharina N Richter, Natalia H Revelo, Katharina J Seitz, Martin S Helm, Deblina Sarkar, Rebecca S Saleeb, Elisa D'Este, Jessica Eberle, Eva Wagner, Christian Vogl, Diana F Lazaro, Frank Richter, Javier Coy-Vergara, Giovanna Coceano, Edward S Boyden, Rory R Duncan, Stefan W Hell, Marcel A Lauterbach, Stephan E Lehnart, Tobias Moser, Tiago Outeiro, Peter Rehling, Blanche Schwappach, Ilaria Testa, Bolek Zapiec, Silvio O Rizzoli
Paraformaldehyde (PFA) is the most commonly used fixative for immunostaining of cells, but has been associated with various problems, ranging from loss of antigenicity to changes in morphology during fixation. We show here that the small dialdehyde glyoxal can successfully replace PFA Despite being less toxic than PFA, and, as most aldehydes, likely usable as a fixative, glyoxal has not yet been systematically tried in modern fluorescence microscopy. Here, we tested and optimized glyoxal fixation and surprisingly found it to be more efficient than PFA-based protocols...
November 16, 2017: EMBO Journal
https://www.readbyqxmd.com/read/29146695/first-in-human-her2-targeted-imaging-using-89-zr-pertuzumab-pet-ct-dosimetry-and-clinical-application-in-patients-with-breast-cancer
#7
Gary A Ulaner, Serge K Lyashchenko, Christopher Riedl, Shutian Ruan, Pat B Zanzonico, Diana Lake, Komal Jhaveri, Brian Zeglis, Jason S Lewis, Joseph A O'Donoghue
In this first-in-human study, we evaluate the safety and dosimetry of (89)Zr-pertuzumab PET/CT for HER2-targeted imaging in patients with HER2-postive breast cancer. Materials and Methods: Patients with HER2-positive breast cancer and evidence of distant metastases were enrolled in an Institutional Review Board (IRB)-approved prospective clinical trial. Pertuzumab was conjugated with deferoxamine and radiolabeled with (89)Zr. Patients underwent (89)Zr-pertuzumab PET/CT with 74 MBq of (89)Zr-pertuzumab in a total antibody mass of 20-50 mg of pertuzumab...
November 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/29146555/extranuclear-signaling-by-sex-steroid-receptors-and-clinical-implications-in-breast-cancer
#8
REVIEW
Viroj Boonyaratanakornkit, Nalo Hamilton, Diana C Márquez-Garbán, Prangwan Pateetin, Eileen M McGowan, Richard J Pietra
Estrogen and progesterone, play essential roles in the development and progression of breast cancer. Over 70% of breast cancers express estrogen receptors (ER) and progesterone receptors (PR), emphasizing the need for better understanding of ER and PR signaling. ER and PR are traditionally viewed as transcription factors and directly bind DNA to regulate gene networks. In addition to nuclear signaling, ER and PR mediate hormone-induced, rapid extranuclear signaling at the cell membrane or in the cytoplasm which initiates downstream signaling to regulate either rapid or extended cellular responses...
November 13, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29146129/change-over-time-in-the-rates-of-adverse-events-in-patients-receiving-systemic-therapy-for-psoriasis-a-cohort-study
#9
Miguel Angel Descalzo, Gregorio Carretero, Carlos Ferrándiz, Raquel Rivera, Esteban Daudén, Fran J Gómez-García, Pablo de la Cueva, Enrique Herrera-Ceballos, Isabel Belinchón, José Luis López-Estebaranz, Mercè Alsina, José Luis Sánchez-Carazo, Marta Ferrán, Ofelia Baniandrés, José Manuel Carrascosa, Mar Llamas-Velasco, Diana Ruiz-Genao, Enrique Herrera-Acosta, Carlos Muñoz-Santos, Ignacio García-Doval
No abstract text is available yet for this article.
November 13, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29145692/the-investigation-on-resorcinarenes-towards-either-inhibiting-or-promoting-insulin-fibrillation
#10
Xu Han, Chuan Tian, Ingrid Gandra, Valeria Eslava, Diana Galindres, Edgar Vargas, Roger Leblanc
Different tail enigneered resorcinarenes have been examined towards the insulin fibrillation via experimental and computational studies. The resorcinarene showed a promising effect on the inhibition of insulin fibrillalition via ThT assay, CD spectra, and AFM images. Both ThT assay and computational results indicate the tail from the resorcinarene has an impact on insulin fibrillation by either inhibition or promotion because of the resident position on insulin. These observations have significant biological implications in the design of lead drug molecules as well as the development of potential therapeutic strategies...
November 16, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29145621/methadone-associated-hypoglycemia-in-chronic-renal-failure-masquerading-as-an-insulinoma
#11
Umesh Masharani, Diana Alba
No abstract text is available yet for this article.
November 14, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29145609/the-differential-effects-of-hiv-and-hcv-on-bone-micro-architecture-and-fracture-risk
#12
Roger J Bedimo, Beverley Adams-Huet, John Poindexter, Geri Brown, Irfan Farukhi, Rosinda Castanon, Diana Turner, Teresa Moore, Pablo Tebas, Naim M Maalouf
Background: HIV/HCV co-infected subjects have a significantly greater osteoporotic fracture risk than HIV-infected, despite the fact that HIV/HCV co-infection has not been associated with lower bone mineral density (BMD) than HIV or HCV alone. We evaluated if changes in bone microarchitecture , measured by trabecular bone score (TBS) could explain these differences. Design: We performed a prospective, cross-sectional cohort study of virologically suppressed HIV, untreated HCV, HIV/HCV co-infected and non-infected controls...
November 14, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29145205/decline-in-search-speed-and-verbal-memory-over-26-years-of-midlife-in-a-british-birth-cohort
#13
Daniel Davis, Rebecca Bendayan, Graciela Muniz Terrera, Rebecca Hardy, Marcus Richards, Diana Kuh
BACKGROUND: Cognitive capabilities change in later life, although their onset and rate of decline, and how they are shaped by lifetime socioeconomic position, childhood cognition and adult health status are all unclear. METHODS: From the Medical Research Council National Survey of Health and Development, we analysed 3,192 participants undergoing one or more cognitive assessments at ages 43, 53, 60-64 and 69. Linear mixed models described cognitive trajectories, adjusting for factors across the life course...
November 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/29144886/comparative-effectiveness-of-proactive-tobacco-treatment-among-smokers-with-and-without-chronic-lower-respiratory-disease
#14
Anne C Melzer, Barbara Clothier, Sandra J Japuntich, Siamak Noorbaloochi, Patrick Hammett, Diana J Burgess, Anne M Joseph, Steven S Fu
RATIONALE: Adults with chronic lower respiratory disease (CLRD) differ in their barriers to smoking cessation, but also suffer from tobacco related health concerns, which may motivate quit attempts. Few studies have examined differences in tobacco treatment response between smokers with and without CLRD. OBJECTIVE: We examined the effectiveness of a proactive outreach program for cessation among smokers with and without CLRD. METHODS: Subgroup analysis of the Veterans VICTORY Over Tobacco Study, a pragmatic randomized controlled trial that demonstrated the effectiveness of proactive outreach and the choice of tobacco treatments compared to usual care...
November 16, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29144449/erratum-non-homeostatic-body-weight-regulation-through-a-brainstem-restricted-receptor-for-gdf15
#15
Jer-Yuan Hsu, Suzanne Crawley, Michael Chen, Dina A Ayupova, Darrin A Lindhout, Jared Higbee, Alan Kutach, William Joo, Zhengyu Gao, Diana Fu, Carmen To, Kalyani Mondal, Betty Li, Avantika Kekatpure, Marilyn Wang, Teresa Laird, Geoffrey Horner, Jackie Chan, Michele McEntee, Manuel Lopez, Damodharan Lakshminarasimhan, Andre White, Sheng-Ping Wang, Jun Yao, Junming Yie, Hugo Matern, Mark Solloway, Raj Haldankar, Thomas Parsons, Jie Tang, Wenyan D Shen, Yu Alice Chen, Hui Tian, Bernard B Allan
This corrects the article DOI: 10.1038/nature24042.
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29144244/modes-of-infant-feeding-and-the-risk-of-childhood-asthma-a-prospective-birth-cohort-study
#16
Annika Klopp, Lorena Vehling, Allan B Becker, Padmaja Subbarao, Piushkumar J Mandhane, Stuart E Turvey, Diana L Lefebvre, Malcolm R Sears, Meghan B Azad
OBJECTIVE: To determine whether different modes of infant feeding are associated with childhood asthma, including differentiating between direct breastfeeding and expressed breast milk. STUDY DESIGN: We studied 3296 children in the Canadian Healthy Infant Longitudinal Development birth cohort. The primary exposure was infant feeding mode at 3 months, reported by mothers and categorized as direct breastfeeding only, breastfeeding with some expressed breast milk, breast milk and formula, or formula only...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29144217/mechanisms-of-naturally-acquired-immunity-to-p-falciparum-and-approaches-to-identify-merozoite-antigen-targets
#17
Julie Healer, Chris Y Chiu, Diana S Hansen
Malaria is one the most serious infectious diseases with over 200 million clinical cases annually. Most cases of the severe disease are caused by Plasmodium falciparum. The blood stage of Plasmodium parasite is entirely responsible for malaria-associated pathology. The population most susceptible to severe malaria are children under the age of 5, with low levels of immunity. It is only after many years of repeated exposure that individuals living in endemic areas develop clinical immunity. This form of protection prevents clinical episodes by substantially reducing parasite burden...
November 16, 2017: Parasitology
https://www.readbyqxmd.com/read/29143823/salt-responsive-gut-commensal-modulates-th17-axis-and-disease
#18
Nicola Wilck, Mariana G Matus, Sean M Kearney, Scott W Olesen, Kristoffer Forslund, Hendrik Bartolomaeus, Stefanie Haase, Anja Mähler, András Balogh, Lajos Markó, Olga Vvedenskaya, Friedrich H Kleiner, Dmitry Tsvetkov, Lars Klug, Paul I Costea, Shinichi Sunagawa, Lisa Maier, Natalia Rakova, Valentin Schatz, Patrick Neubert, Christian Frätzer, Alexander Krannich, Maik Gollasch, Diana A Grohme, Beatriz F Côrte-Real, Roman G Gerlach, Marijana Basic, Athanasios Typas, Chuan Wu, Jens M Titze, Jonathan Jantsch, Michael Boschmann, Ralf Dechend, Markus Kleinewietfeld, Stefan Kempa, Peer Bork, Ralf A Linker, Eric J Alm, Dominik N Müller
A Western lifestyle with high salt consumption can lead to hypertension and cardiovascular disease. High salt may additionally drive autoimmunity by inducing T helper 17 (TH17) cells, which can also contribute to hypertension. Induction of TH17 cells depends on gut microbiota; however, the effect of salt on the gut microbiome is unknown. Here we show that high salt intake affects the gut microbiome in mice, particularly by depleting Lactobacillus murinus. Consequently, treatment of mice with L. murinus prevented salt-induced aggravation of actively induced experimental autoimmune encephalomyelitis and salt-sensitive hypertension by modulating TH17 cells...
November 15, 2017: Nature
https://www.readbyqxmd.com/read/29143457/microhaplotypes-provide-increased-power-from-short-read-dna-sequences-for-relationship-inference
#19
Diana S Baetscher, Anthony J Clemento, Thomas C Ng, Eric C Anderson, John Carlos Garza
The accelerating rate at which DNA sequence data is now generated by high-throughput sequencing instruments provides both opportunities and challenges for population genetic and ecological investigations of animals and plants. We show here how the common practice of calling genotypes from a single SNP per sequenced region ignores substantial additional information in the phased short-read sequences that are provided by these sequencing instruments. We target sequenced regions with multiple SNPs in kelp rockfish (Sebastes atrovirens) to determine "microhaplotypes" and then call these microhaplotypes as alleles at each locus...
November 16, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/29143293/acute-motor-axonal-neuropathy-and-transverse-myelitis-overlap-the-importance-of-history-taking
#20
Diana Degan, Cindy Tiseo, Raffaele Ornello, Francesca Notturno
In young adults, acute motor axonal neuropathy and transverse myelitis rarely occur as associated conditions. Clinical reasoning, symptoms, laboratory and ancillary investigations (electroneurographic and radiological findings), should properly address the physician to the correct diagnosis.
November 15, 2017: Internal and Emergency Medicine
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