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https://www.readbyqxmd.com/read/27936154/retinal-morphology-and-sensitivity-are-primarily-impaired-in-eyes-with-neuromyelitis-optica-spectrum-disorder-nmosd
#1
Ryutaro Akiba, Hirotaka Yokouchi, Masahiro Mori, Toshiyuki Oshitari, Takayuki Baba, Setsu Sawai, Satoshi Kuwabara, Shuichi Yamamoto
BACKGROUND: Previous studies of neuromyelitis optica spectrum disorder (NMOSD) using spectral domain optical coherence tomography (SD-OCT) showed that the outer nuclear layer (ONL) in eyes without a history of optic neuritis (ON) was thinner than that of healthy controls. It remains unclear whether the ONL thinning is caused by a direct attack on the retina by an autoantibody or a retrograde degeneration. OBJECTIVE: To determine the mechanisms involved in the retinal damage in eyes with NMOSD without ON...
2016: PloS One
https://www.readbyqxmd.com/read/27929686/hematopoietic-cell-transplantation-in-fanconi-anemia-current-evidence-challenges-and-recommendations
#2
Christen L Ebens, Margaret L MacMillan, John E Wagner
Hematopoietic cell transplantation for Fanconi Anemia (FA) has improved dramatically over the past 40 years. With an enhanced understanding of the intrinsic DNA-repair defect and pathophysiology of hematopoietic failure and leukemogenesis, sequential changes to conditioning and graft engineering have significantly improved the expectation of survival after allogeneic hematopoietic cell transplantation (alloHCT) with incidence of graft failure decreased from 35% to <10% and acute graft-versus-host disease (GVHD) from >40% to <10%...
December 8, 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27927609/data-analysis-protocol-for-the-development-and-evaluation-of-population-pharmacokinetic-models-for-incorporation-into-the-web-accessible-population-pharmacokinetic-service-hemophilia-wapps-hemo
#3
Alanna McEneny-King, Gary Foster, Alfonso Iorio, Andrea N Edginton
BACKGROUND: Hemophilia is an inherited bleeding disorder caused by a deficiency in a specific clotting factor. This results in spontaneous bleeding episodes and eventual arthropathy. The mainstay of hemophilia treatment is prophylactic replacement of the missing factor, but an optimal regimen remains to be determined. Rather, individualized prophylaxis has been suggested to improve both patient safety and resource utilization. However, uptake of this approach has been hampered by the demanding sampling schedules and complex calculations required to obtain individual estimates of pharmacokinetic (PK) parameters...
December 7, 2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/27921426/-gestational-diabetes-mellitus
#4
Hana Krejčí
The present generation of women of childbearing age more frequently suffer from overweight, obesity, initial as well as fully established metabolic syndrome, which together with postponing motherhood until the third decade in life plays an important role in the increasing incidence of gestational diabetes (GDM) that currently affects about 1/5 of pregnant women. However the causal link between diabetes during pregnancy and metabolic diseases in the whole population is mutual. By way of epigenetic changes, maternal diabetes unfavourably programmes metabolism of the offspring, who tend to transfer the disorder to the next generations...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27920840/unusual-use-of-gd-eob-dtpa-in-mrcp-in-order-to-reveal-the-source-of-bile-leakage-in-a-patient-with-neuroendocrine-tumor-case-report
#5
Rafał Mazur, Aleksander Pawluś, Kinga Szymańska, Mateusz Patyk, Anna Otlewska, Krzysztof Międzybrodzki, Dąbrówka Sokołowska-Dąbek, Eliza Kubicka, Urszula Zaleska-Dorobisz
BACKGROUND: MRCP is the method of choice in diagnosing pathologies of the biliary system. One of them is bile fistulae. They are uncommon but tend to cause many diagnostic problems. The possible way to improve MRCP is using it with intravenous injection of hepatobiliary-specific contrast agents. As it is eliminated via the hepatobiliary system, it can be visualized in the bile ducts and may help to reveal disorders undetected by a standard MRCP. CASE REPORT: We report a case of a 36-year-old woman with leakage in the biliary system which led to creation of a subcutaneous bile reservoir...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27920409/prevalence-of-igg-mediated-food-intolerance-among-patients-with-allergic-symptoms
#6
Zahid Shakoor, Abrar AlFaifi, Bayan AlAmro, Lama Nabil AlTawil, Rana Yazid AlOhaly
BACKGROUND: Food intolerance mediated by food specific IgG antibodies has been implicated in a variety of disorders. OBJECTIVES: To assess the prevalence of food specific IgG antibodies among patients clinically presenting with allergic symptoms lacking laboratory evidence of allergy. DESIGN: Descriptive retrospective cross-sectional study. SETTING: King Khalid University Hospital, Riyadh between 2010-2015. PATIENTS AND METHODS: Patients were screened for food specific IgG antibodies...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27919403/trace-amine-associated-receptor-1-agonists-as-narcolepsy-therapeutics
#7
Sarah W Black, Michael D Schwartz, Tsui-Ming Chen, Marius C Hoener, Thomas S Kilduff
BACKGROUND: Narcolepsy, a disorder of rapid eye movement (REM) sleep, is characterized by excessive daytime sleepiness and cataplexy, a loss of muscle tone triggered by emotional stimulation. Current narcolepsy pharmacotherapeutics include controlled substances with abuse potential or drugs with undesirable side effects. As partial agonists at trace amine-associated receptor 1 (TAAR1) promote wakefulness in mice and rats, we evaluated whether TAAR1 agonism had beneficial effects in two mouse models of narcolepsy...
October 18, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27918287/measuring-discrimination-and-reversal-learning-in-mouse-models-within-4-days-and-without-prior-food-deprivation
#8
Esther Remmelink, August B Smit, Matthijs Verhage, Maarten Loos
Many neurological and psychiatric disorders are characterized by deficits in cognitive flexibility. Modeling cognitive flexibility in mice enables the investigation of mechanisms underlying these deficits. The majority of currently available behavioral tests targeting this cognitive domain are reversal learning tasks that require scheduled food restriction, extended training periods and labor-intensive, and stress-inducing animal handling. Here, we describe a novel 4-day (4-d) continuously running task measuring discrimination- and reversal learning in an automated home cage (CognitionWall DL/RL task) that largely eliminates these limitations...
November 2016: Learning & Memory
https://www.readbyqxmd.com/read/27916278/2016-revisions-to-the-2010-2011-fibromyalgia-diagnostic-criteria
#9
Frederick Wolfe, Daniel J Clauw, Mary-Ann Fitzcharles, Don L Goldenberg, Winfried Häuser, Robert L Katz, Philip J Mease, Anthony S Russell, Irwin Jon Russell, Brian Walitt
OBJECTIVES: The provisional criteria of the American College of Rheumatology (ACR) 2010 and the 2011 self-report modification for survey and clinical research are widely used for fibromyalgia diagnosis. To determine the validity, usefulness, potential problems, and modifications required for the criteria, we assessed multiple research reports published in 2010-2016 in order to provide a 2016 update to the criteria. METHODS: We reviewed 14 validation studies that compared 2010/2011 criteria with ACR 1990 classification and clinical criteria, as well as epidemiology, clinical, and databank studies that addressed important criteria-level variables...
August 30, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/27913821/theobromine-upregulates-osteogenesis-by-human-mesenchymal-stem-cells-in-vitro-and-accelerates-bone-development-in-rats
#10
Bret H Clough, Joni Ylostalo, Elizabeth Browder, Eoin P McNeill, Thomas J Bartosh, H Ralph Rawls, Tetsuo Nakamoto, Carl A Gregory
Theobromine (THB) is one of the major xanthine-like alkaloids found in cacao plant and a variety of other foodstuffs such as tea leaves, guarana and cola nuts. Historically, THB and its derivatives have been utilized to treat cardiac and circulatory disorders, drug-induced nephrotoxicity, proteinuria and as an immune-modulator. Our previous work demonstrated that THB has the capacity to improve the formation of hydroxyl-apatite during tooth development, suggesting that it may also enhance skeletal development...
December 2, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27912886/medicinal-plants-and-natural-molecules-with-in-vitro-and-in-vivo-activity-against-rotavirus-a-systematic-review
#11
REVIEW
Gopalsamy Rajiv Gandhi, Paula Gurgel Barreto, Bruno Dos Santos Lima, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo, Narendra Narain, Lucindo Jose Quintans-Júnior, Ricardo Queiroz Gurgel
BACKGROUND: Rotaviruses can cause life-threatening health disorders, such as severe dehydrating gastroenteritis and diarrhea in children. Vaccination is the main preventive strategy to reduce rotavirus diarrhea and the severity of episodes, but vaccines are not fully effective and new episodes may occur, even in vaccinated children. The WHO recommends oral rehydration therapy and zinc supplementation for rotavirus-induced diarrhea management. There is little preclinical evidence to support the use of phytotherapeutics in the management of rotaviral infections...
December 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/27911597/evidence-based-psychosocial-treatments-for-pediatric-elimination-disorders
#12
Jaclyn A Shepard, Joseph E Poler, Jesse H Grabman
Pediatric elimination disorders are common in childhood, yet psychosocial correlates are generally unclear. Given the physiological concomitants of both enuresis and encopresis, and the fact that many children with elimination disorders are initially brought to their primary care physician for treatment, medical evaluation and management are crucial and may serve as the first-line treatment approach. Scientific investigation on psychological and behavioral interventions has progressed over the past couple of decades, resulting in the identification of effective treatments for enuresis and encopresis...
December 2, 2016: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/27909450/evaluation-of-a-functional-model-of-acquired-capability-for-suicide-in-a-nationwide-sample-of-korean-adults
#13
Joon Deuk Lee, Maeng Je Cho, Jee Hoon Sohn, Subin Park, Sujeong Seong, Joon Ho Ahn, Bong-Jin Hahm, Jin Pyo Hong
OBJECTIVE: We examined a functional model of acquired capability for suicide, which was elaborated from the "Interpersonal-Psychological Theory of Suicide". METHODS: A total of 6,027 Korean community subjects were recruited from The Korean Epidemiologic Catchment Area study conducted in 2011. The subjects were assessed systematically using the Korean version of the Composite International Diagnostic Interview version 2.1, the Korean version of the Barratt Impulsiveness Scale, and the Korean version of the Mood Disorder Questionnaire...
November 2016: Psychiatry Investigation
https://www.readbyqxmd.com/read/27906179/pink1-dependent-phosphorylation-of-pink1-and-parkin-is-essential-for-mitochondrial-quality-control
#14
Na Zhuang, Lin Li, She Chen, Tao Wang
Mitochondrial dysfunction has been linked to the pathogenesis of a large number of inherited diseases in humans, including Parkinson's disease, the second most common neurodegenerative disorder. The Parkinson's disease genes pink1 and parkin, which encode a mitochondrially targeted protein kinase, and an E3 ubiquitin ligase, respectively, participate in a key mitochondrial quality-control pathway that eliminates damaged mitochondria. In the current study, we established an in vivo PINK1/Parkin-induced photoreceptor neuron degeneration model in Drosophila with the aim of dissecting the PINK1/Parkin pathway in detail...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27903327/auditory-vigilance-and-working-memory-in-youth-at-familial-risk-for-schizophrenia-or-affective-psychosis-in-the-harvard-adolescent-family-high-risk-study
#15
Larry J Seidman, Andrea Pousada-Casal, Silvia Scala, Eric C Meyer, William S Stone, Heidi W Thermenos, Elena Molokotos, Jessica Agnew-Blais, Ming T Tsuang, Stephen V Faraone
BACKGROUND: The degree of overlap between schizophrenia (SCZ) and affective psychosis (AFF) has been a recurring question since Kraepelin's subdivision of the major psychoses. Studying nonpsychotic relatives allows a comparison of disorder-associated phenotypes, without potential confounds that can obscure distinctive features of the disorder. Because attention and working memory have been proposed as potential endophenotypes for SCZ and AFF, we compared these cognitive features in individuals at familial high-risk (FHR) for the disorders...
November 2016: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/27898837/global-transcriptome-analysis-reveals-differences-in-gene-expression-patterns-between-nonhyperhydric-and-hyperhydric-peach-leaves
#16
Yakup Bakir, Vahap Eldem, Gokmen Zararsiz, Turgay Unver
Hyperhydricity is a morphophysiological disorder of plants in tissue culture characterized morphologically by the presence of translucent, thick, curled, and fragile leaves as a result of excessive water intake. Since clonal propagation is a major in vitro technique for multiplying plants vegetatively, the emergence of hyperhydricity-related symptoms causes significant economic losses to agriculture and horticulture. Although numerous efforts have been hitherto devoted to the morphological and anatomical responses of plants to hyperhydricity, the underlying molecular mechanism remains largely unknown...
July 2016: Plant Genome
https://www.readbyqxmd.com/read/27898453/resolution-of-rectal-prolapse-by-vaginal-reconstruction
#17
Hemikaa Devakumar, Neeraja Chandrasekaran, Alexandriah Alas, Laura Martin, G Willy Davila, Eric Hurtado
BACKGROUND: Rectal prolapse is a disorder of the pelvic floor in which the layers of the rectal mucosa protrude outward through the anus. Surgical repair is the mainstay of treatment. Options include intra-abdominal procedures such as rectopexy and perineal procedures such as the Delorme and Altemeier perineal rectosigmoidectomy. Rectal and vaginal prolapse can often coexist. However, to our knowledge, there are no reported cases of rectal prolapse resolved by the repair of a compressive enterocele abutting the anterior rectal wall through a vaginal approach alone...
November 28, 2016: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/27897003/de-novo-mutations-in-autism-implicate-the-synaptic-elimination-network
#18
Guhan Ram Venkataraman, Chloe O'Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27892452/the-perfect-glass-paradigm-disordered-hyperuniform-glasses-down-to-absolute-zero
#19
G Zhang, F H Stillinger, S Torquato
Rapid cooling of liquids below a certain temperature range can result in a transition to glassy states. The traditional understanding of glasses includes their thermodynamic metastability with respect to crystals. However, here we present specific examples of interactions that eliminate the possibilities of crystalline and quasicrystalline phases, while creating mechanically stable amorphous glasses down to absolute zero temperature. We show that this can be accomplished by introducing a new ideal state of matter called a "perfect glass"...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27891231/a-pharmacokinetic-evaluation-and-metabolite-identification-of-the-ghb-receptor-antagonist-ncs-382-in-mouse-informs-novel-therapeutic-strategies-for-the-treatment-of-ghb-intoxication
#20
Garrett R Ainslie, K Michael Gibson, Kara R Vogel
Gamma-aminobutyric acid (GABA) is an endogenous inhibitory neurotransmitter and precursor of gamma-hydroxybutyric acid (GHB). NCS-382 (6,7,8,9-tetrahydro-5-hydroxy-5H-benzo-cyclohept-6-ylideneacetic acid), a known GHB receptor antagonist, has shown significant efficacy in a murine model of succinic semialdehyde dehydrogenase deficiency (SSADHD), a heritable neurological disorder featuring chronic elevation of GHB that blocks the final step of GABA degradation. NCS-382 exposures and elimination pathways remain unknown; therefore, the goal of the present work was to obtain in vivo pharmacokinetic data in a murine model and to identify the NCS-382 metabolites formed by mouse and human...
December 2016: Pharmacology Research & Perspectives
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