keyword
MENU ▼
Read by QxMD icon Read
search

Disorder

keyword
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098925/-personality-disorders-life-span-perspective-makes-sense
#2
J Hutsebaut, A C Videler, M J A Schoutrop, T A M J van Amelsvoort, S P J van Alphen
No abstract text is available yet for this article.
2017: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/28098892/metabolomics-study-on-primary-dysmenorrhea-patients-during-the-luteal-regression-stage-based-on-ultra-performance-liquid-chromatography-coupled-with-quadrupole%C3%A2-time%C3%A2-of%C3%A2-flight-mass-spectrometry
#3
Ling Fang, Caiyun Gu, Xinyu Liu, Jiabin Xie, Zhiguo Hou, Meng Tian, Jia Yin, Aizhu Li, Yubo Li
Primary dysmenorrhea (PD) is a common gynecological disorder which, while not life‑threatening, severely affects the quality of life of women. Most patients with PD suffer ovarian hormone imbalances caused by uterine contraction, which results in dysmenorrhea. PD patients may also suffer from increases in estrogen levels caused by increased levels of prostaglandin synthesis and release during luteal regression and early menstruation. Although PD pathogenesis has been previously reported on, these studies only examined the menstrual period and neglected the importance of the luteal regression stage...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098880/the-role-of-gap-junctions-in-inflammatory-and-neoplastic-disorders-review
#4
Pui Wong, Victoria Laxton, Saurabh Srivastava, Yin Wah Fiona Chan, Gary Tse
Gap junctions are intercellular channels made of connexin proteins, mediating both electrical and biochemical signals between cells. The ability of gap junction proteins to regulate immune responses, cell proliferation, migration, apoptosis and carcinogenesis makes them attractive therapeutic targets for treating inflammatory and neoplastic disorders in different organ systems. Alterations in gap junction profile and expression levels are observed in hyperproliferative skin disorders, lymphatic vessel diseases, inflammatory lung diseases, liver injury and neoplastic disorders...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#5
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098843/perm-hypothesis-the-fundamental-machinery-able-to-elucidate-the-role-of-xenobiotics-and-hormesis-in-cell-survival-and-homeostasis
#6
REVIEW
Salvatore Chirumbolo, Geir Bjørklund
In this article the Proteasome, Endoplasmic Reticulum and Mitochondria (PERM) hypothesis is discussed. The complex machinery made by three homeostatic mechanisms involving the proteasome (P), endoplasmic reticulum (ER) and mitochondria (M) is addressed in order to elucidate the beneficial role of many xenobiotics, either trace metals or phytochemicals, which are spread in the human environment and in dietary habits, exerting their actions on the mechanisms underlying cell survival (apoptosis, cell cycle regulation, DNA repair and turnover, autophagy) and stress response...
January 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098837/casein-glycomacropeptide-hydrolysates-exert-cytoprotective-effect-against-cellular-oxidative-stress-by-up-regulating-ho-1-expression-in-hepg2-cells
#7
Tiange Li, Bin Chen, Min Du, Jiajia Song, Xue Cheng, Xu Wang, Xueying Mao
Oxidative stress is considered as an important mediator in the progression of metabolic disorders. The objective of this study was to investigate the potential hepatoprotective effects and mechanisms of bovine casein glycomacropeptide hydrolysates (GHP) on hydrogen peroxide (H₂O₂)-induced oxidative damage in HepG2 cells. Results showed that GHP significantly blocked H₂O₂-induced intracellular reactive oxygen species (ROS) generation and cell viability reduction in a dose-dependent manner. Further, GHP concentration-dependently induced heme oxygenase-1 (HO-1) expression and increased nuclear factor-erythroid 2-related factor 2 (Nrf2) nuclear translocation...
January 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28098832/therapeutic-potential-of-targeting-the-th17-treg-axis-in-autoimmune-disorders
#8
REVIEW
Patrizia Fasching, Martin Stradner, Winfried Graninger, Christian Dejaco, Johannes Fessler
A disruption of the crucial balance between regulatory T-cells (Tregs) and Th17-cells was recently implicated in various autoimmune disorders. Tregs are responsible for the maintenance of self-tolerance, thus inhibiting autoimmunity, whereas pro-inflammatory Th17-cells contribute to the induction and propagation of inflammation. Distortion of the Th17/Treg balance favoring the  pro-inflammatory Th17 side is hence suspected to contribute to exacerbation of autoimmune disorders. This review aims to summarize recent data and advances in targeted therapeutic modification of the Th17/Treg-balance, as well as information on the efficacy of candidate therapeutics with respect to the treatment of autoimmune diseases...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28098826/hair-growth-promoting-and-anticancer-effects-of-p21-activated-kinase-1-pak1-inhibitors-isolated-from-different-parts-of-alpinia-zerumbet
#9
Nozomi Taira, Binh Cao Quan Nguyen, Shinkichi Tawata
PAK1 (p21-activated kinase 1) is an emerging target for the treatment of hair loss (alopecia) and cancer; therefore, the search for PAK1 blockers to treat these PAK1-dependent disorders has received much attention. In this study, we evaluated the anti-alopecia and anticancer effects of PAK1 inhibitors isolated from Alpinia zerumbet (alpinia) in cell culture. The bioactive compounds isolated from alpinia were found to markedly promote hair cell growth. Kaempferol-3-O-β-d-glucuronide (KOG) and labdadiene, two of the isolated compounds, increased the proliferation of human follicle dermal papilla cells by approximately 117%-180% and 132%-226%, respectively, at 10-100 μM...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28098786/retinoic-acid-and-its-role-in-modulating-intestinal-innate-immunity
#10
REVIEW
Paulo Czarnewski, Srustidhar Das, Sara M Parigi, Eduardo J Villablanca
Vitamin A (VA) is amongst the most well characterized food-derived nutrients with diverse immune modulatory roles. Deficiency in dietary VA has not only been associated with immune dysfunctions in the gut, but also with several systemic immune disorders. In particular, VA metabolite all-trans retinoic acid (atRA) has been shown to be crucial in inducing gut tropism in lymphocytes and modulating T helper differentiation. In addition to the widely recognized role in adaptive immunity, increasing evidence identifies atRA as an important modulator of innate immune cells, such as tolerogenic dendritic cells (DCs) and innate lymphoid cells (ILCs)...
January 13, 2017: Nutrients
https://www.readbyqxmd.com/read/28098747/integrated-treatment-of-ptsd-and-substance-use-disorders-the-mediating-role-of-ptsd-improvement-in-the-reduction-of-depression
#11
Kristina J Korte, Kaitlin E Bountress, Rachel L Tomko, Therese Killeen, Megan Moran-Santa Maria, Sudie E Back
Posttraumatic stress disorder (PTSD) represents one of the most common mental health disorders, particularly among veterans, and is associated with significant distress and impairment. This highly debilitating disorder is further complicated by common comorbid psychiatric disorders, such as substance use disorders (SUD). Individuals with PTSD and co-occurring SUD also commonly present with secondary symptoms, such as elevated depression. Little is known, however, about how these secondary symptoms are related to treatment outcome...
January 13, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28098733/preventing-pupillary-capture-after-vitrectomy-and-transscleral-fixation-of-an-intraocular-lens-iridotomy-using-a-vitrectomy-probe
#12
Dae Yune Kim, Hyung Bin Lim, Tae Seen Kang, Jung Yeul Kim
PURPOSE: To investigate the effects of concurrent iridotomy using a vitreous cutter probe on the prevention of pupillary capture in patients undergoing transscleral fixation of intraocular lens implantation. METHODS: A total of 79 eyes from 79 patients, who underwent transscleral fixation of intraocular lens without preexisting vitreoretinal disorders and who were followed up for 6 months were included. Subjects were divided into a noniridotomy group (51 eyes) and an iridotomy group (28 eyes)...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098725/how-vitreomacular-interface-modifies-the-efficacy-of-anti-vegf-therapy-for-myopic-choroidal-neovascularization
#13
Pierluigi Iacono, Maurizio Battaglia Parodi, Lorenzo Iuliano, Francesco Bandello
PURPOSE: To evaluate the efficacy of intravitreal ranibizumab in the treatment of myopic choroidal neovascularization (mCNV) complicated by vitreoretinal interface alterations. METHODS: Thirty-two patients affected by mCNV and concurrent vitreoretinal interface disorders, including macular epiretinal membrane (18 patients), lamellar macular hole (4 patients), full-thickness macular hole (1 patient), broad/focal vitreomacular traction (3 patients), broad/focal vitreomacular adhesion (4 patients), and myopic foveoschisis (2 patients), were enrolled in a prospective study...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098630/collapse-of-the-microbiome-emergence-of-the-pathobiome-and-the-immunopathology-of-sepsis
#14
John C Alverdy, Monika A Krezalek
The definition of sepsis has been recently modified to accommodate emerging knowledge in the field, while at the same time being recognized as challenging, if not impossible, to define. Here, we seek to clarify the current understanding of sepsis as one that has been typically framed as a disorder of inflammation to one in which the competing interests of the microbiota, pathobiota, and host immune cells lead to loss of resilience and nonresolving organ dysfunction. Here, we challenge the existence of the idea of noninfectious sepsis given that critically ill humans never exist in a germ-free state...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28098593/familial-dysbetalipoproteinemia-an-underdiagnosed-lipid-disorder
#15
Charlotte Koopal, A David Marais, Frank L J Visseren
PURPOSE OF REVIEW: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. RECENT FINDINGS: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor...
January 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28098580/an-investigation-of-treatment-engagement-among-returning-veterans-with-problematic-anger
#16
Kirsten H Dillon, Eric F Crawford, Harold Kudler, Kristy A Straits-Troster, Eric B Elbogen, Patrick S Calhoun
Anger is a commonly reported problem among returning veterans, yet little attention has been devoted to studying treatment engagement among veterans who report anger problems but do not have posttraumatic stress disorder (PTSD). This study compares Iraq-Afghanistan veterans with anger/no PTSD (n = 159) to others reporting significant PTSD symptoms (n = 285) and those reporting neither anger nor PTSD (n = 716) on rates of treatment utilization, perceived barriers to treatment, and preferences for care. Relative to the PTSD group, the anger/no-PTSD group was significantly less likely to have received mental health treatment in the last year, despite endorsing barriers to treatment at a lower rate...
January 14, 2017: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/28098560/disordered-kitaev-chains-with-long-range-pairing
#17
Cai Xiaoming
We study the competition of disorder and superconductivity for a generalized Kitaev model in incommensurate potentials. The generalized Kitaev model describes one dimensional spinless fermions with long-range p-wave superconducting pairing, which decays with distance <i>l</i> as a power law ���1/<i>l</i><sup>��</sup>. We focus on the transition from the topological superconducting phase to the topologically trivial Anderson localized phase, and effects of the exponent �� on this phase transition...
January 18, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28098514/edible-and-medicinal-mushrooms-emerging-brain-food-for-the-mitigation-of-neurodegenerative-diseases
#18
Chia-Wei Phan, Pamela David, Vikineswary Sabaratnam
There is an exponential increase in dementia in old age at a global level because of increasing life expectancy. The prevalence of neurodegenerative diseases such as dementia and Alzheimer's disease (AD) will continue to rise steadily, and is expected to reach 42 million cases worldwide in 2020. Despite the advancement of medication, the management of these diseases remains largely ineffective. Therefore, it is vital to explore novel nature-based nutraceuticals to mitigate AD and other age-related neurodegenerative disorders...
January 2017: Journal of Medicinal Food
https://www.readbyqxmd.com/read/28098503/relationship-between-perceived-competence-and-performance-during-real-and-virtual-motor-tasks-by-children-with-developmental-coordination-disorder
#19
Batya Engel-Yeger, Rotem Sido, Aviva Mimouni-Bloch, Patrice L Weiss
PURPOSE: (i) To compare children with DCD and typically developing participants via standard motor assessments, two interactive virtual games, measures of physical, social and cognitive self-competence and feedback while playing the virtual games and (ii) To examine the contribution of age and each motor assessment to predict self-competence. METHODS: Participants were 25 boys with DCD and 25 typically developing boys, aged 5-9 years. They completed the M-ABC-2, the Pictorial Scale of Perceived Competence, the 6-Minute Walk Test, and then played the two Kinect games and completed the Short Feedback Questionnaire for Children...
January 18, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28098492/insomnia-management-in-the-australian-primary-care-setting
#20
Fatema-Tun-Naher Sake, Keith Wong, Delwyn J Bartlett, Bandana Saini
BACKGROUND AND OBJECTIVE: Insomnia is one of the most prevalent and costly sleep disorders presenting in general practice, and when left untreated, has major health consequences. However, studies are limited on how general practitioners respond to this health issue, especially since the reconceptualization of insomnia in DSM 5. Therefore, the aim of this study was to explore how insomnia is diagnosed and treated in Australian general practices. PARTICIPANTS: Twenty-four (54% male) general practitioners were recruited throughout the greater Sydney metropolitan area in New South Wales using the professional network of research team members and snowballing technique...
January 18, 2017: Behavioral Sleep Medicine
keyword
keyword
6905
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"