keyword
MENU ▼
Read by QxMD icon Read
search

Disorders

keyword
https://www.readbyqxmd.com/read/28102979/changes-in-salivary-cortisol-during-psychotherapy-for-posttraumatic-stress-disorder-a-pilot-study-in-30-veterans
#1
Sheila A M Rauch, Anthony P King, Israel Liberzon, Rebecca K Sripada
BACKGROUND: Convergent evidence suggests that the hypothalamic-pituitary-adrenal (HPA) axis is disrupted in posttraumatic stress disorder (PTSD) and that HPA axis normalization may be associated with symptom improvement. Thus, the current study was designed to test the association between HPA axis reactivity and treatment response in psychotherapy for PTSD. METHODS: Thirty returning veterans with DSM-IV-TR PTSD were randomly assigned to receive 10 sessions of prolonged exposure therapy or present-centered therapy as part of a previously published randomized clinical trial (2008-2010)...
January 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28102978/pretreatment-cardiometabolic-status-in-youth-with-early-onset-psychosis-baseline-results-from-the-tea-trial
#2
Karsten G Jensen, Christoph U Correll, Ditte Rudå, Dea G Klauber, Marie Stentebjerg-Olesen, Birgitte Fagerlund, Jens Richardt Møllegaard Jepsen, Anders Fink-Jensen, Anne Katrine Pagsberg
OBJECTIVE: To describe pretreatment cardiometabolic constitution in children and adolescents with first-episode psychosis (FEP). METHODS: Baseline cardiometabolic assessment was performed in youths aged 12-17 years with FEP entering the Tolerability and Efficacy of Antipsychotics (TEA) trial and matched healthy controls. Patients were included between June 10, 2010, and January 29, 2014. ICD-10 was used as the diagnostic classification system. Cardiometabolic risk markers were compared between patients versus controls and antipsychotic-naive versus antipsychotic-exposed patients...
January 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28102934/crosstalk-between-angiotensin-and-the-non-amyloidogenic-pathway-of-alzheimer-s-amyloid-precursor-protein
#3
Anna Maria Kanarek, Annika Wagner, Jim Küppers, Michael Gütschow, Rolf Postina, Elzbieta Kojro
The association between hypertension and an increased risk for Alzheimer's disease (AD) and dementia is well established. Many data suggest that modulation of the renin-angiotensin system may be meaningful for the prevention and therapy of neurodegenerative disorders, in particular AD. Proteolytic cleavage of the amyloid precursor protein (APP) by α-secretase precludes formation of neurotoxic Aβ peptides and is expected to counteract the development of AD. An established approach for the up-regulation of α-secretase cleavage is activation of G protein-coupled receptors (GPCRs)...
January 19, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28102908/addressing-critical-gaps-in-the-treatment-of-eating-disorders
#4
REVIEW
Alan E Kazdin, Ellen E Fitzsimmons-Craft, Denise E Wilfley
Remarkable progress has been made in developing psychosocial interventions for eating disorders and other mental disorders. Two priorities in providing treatment consist of addressing the research-practice gap and the treatment gap. The research-practice gap pertains to the dissemination of evidence-based treatments from controlled settings to routine clinical care. Closing the gap between what is known about effective treatment and what is actually provided to patients who receive care is crucial in improving mental health care, particularly for conditions such as eating disorders...
January 19, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28102885/profound-hyponatraemia-in-the-emergency-department-seasonality-and-risk-factors
#5
Tibor Huwyler, Jerome Stirnemann, Nicolas Vuilleumier, Christophe Marti, Sarah Dugas, Pierre-Alexandre Poletti, Francois P Sarasin, Olivier T Rutschmann
AIMS OF THE STUDY: Profound hyponatremia (<125 mmol/l) is frequent in the emergency department. Its incidence appears to increase during hot weather. Our objectives were to investigate seasonal variations in the incidence of profound hyponatraemia and identify its risk factors. METHODS: The incidence of profound hyponatremia among patients admitted to the emergency department of a university hospital was compared between summer and winter periods over two successive years...
January 19, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28102874/cardiorespiratory-hospitalisation-and-mortality-reductions-after-smoking-bans-in-switzerland
#6
Ana M Vicedo-Cabrera, Martin Röösli, Dragana Radovanovic, Leticia Grize, Fabienne Witassek, Christian Schindler, Laura Perez
INTRODUCTION: Smoking bans are considered one of the most effective policies to reduce population exposure to tobacco smoke and prevent adverse health outcomes. However, evidence on the effect of contextual variables on the effectiveness of smoking bans is still lacking. AIMS: The patchwork of cantonal smoke-free laws in Switzerland was used as a quasi-experimental setting to assess changes after their introduction in: hospitalisations and mortality due to cardiorespiratory diseases in adults; total hospitalisations and hospitalisations due to respiratory disorders in children; and the modifying effects of contextual factors and the effectiveness of the laws...
January 19, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#7
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#8
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102824/investigation-of-valley-resolved-transmission-through-gate-defined-graphene-carrier-guiders
#9
Shimin Cao, Jiaojiao Zhou, Xuan Wei, Shu-Guang Cheng
Massless charge carriers in gate potential modulate graphene quantum well transport in a same way that electromagnetic wave propagates in optical fibers. Recent experiment by Kim {\it et al} (Nat. Phys. 12 1022) reports the valley symmetry preserved transport in graphene carrier guider. Based on a tight-binding model, the valley resolved transport coefficients are calculated with the method of scattering matrix theory. For a straight potential well, valley resolved conductance is quantized with value $2n+1$ multiply $2e^2/h$ with integer $n$...
January 19, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28102781/a-neurodevelopmental-disorder-with-a-nonsense-mutation-in-the-ox-2-antigen-domain-of-the-amyloid-precursor-protein-app-gene
#10
Khue Vu Nguyen, Karen Leydiker, Raymond Wang, Jose Abdenur, William L Nyhan
We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359(*) (b) exon 8 of the senataxin (SETX) gene: c.4738C>T, p.Arg1580Cys, and (c) exon 2 of the ceroid-lipofuscinosis, neuronal 8 (CLN8) gene: c...
January 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28102737/platelet-microvesicles-in-health-and-disease
#11
Imene Melki, Nicolas Tessandier, Anne Zufferey, Eric Boilard
Interest in cell-derived extracellular vesicles and their physiological and pathological implications is constantly growing. Microvesicles, also known as microparticles, are small extracellular vesicles released by cells in response to activation or apoptosis. Among the different microvesicles present in the blood of healthy individuals, platelet-derived microvesicles (PMVs) are the most abundant. Their characterization has revealed a heterogeneous cargo that includes a set of adhesion molecules. Similarly to platelets, PMVs are also involved in thrombosis through support of the coagulation cascade...
January 19, 2017: Platelets
https://www.readbyqxmd.com/read/28102729/chronic-myelomonocytic-leukemia-with-double-mutations-in-dnmt3a-and-flt3-itd-treated-with-decitabine-and-sorafenib
#12
Jia Gu, Zhiqiong Wang, Min Xiao, Xia Mao, Li Zhu, Ying Wang, Wei Huang
Chronic myelomonocytic leukemia (CMML) is a heterogeneous neoplastic hematologic disorder with worse overall survival. Half of CMML have mutations, but case with concomitant mutations of DNA methyltransferase 3A (DNMT3A) and Internal tandem duplications of the juxtamembrane domain of FLT3 (FLT3-ITD) in CMML was not reported before. We reported a 51-year-old man who had CMML with concomitant mutations in DNMT3A and FLT3-ITD.The patient received decitabine and sorafenib combined treatment. In this report, we reviewed DNMT3A mutation and FLT3 mutation, and we reviewed treatment of decitabine and sorafenib...
January 19, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28102705/the-acetyl-code-in-rheumatoid-arthritis-and-other-rheumatic-diseases
#13
Chiara Angiolilli, Dominique L Baeten, Timothy R Radstake, Kris A Reedquist
Growing evidence supports the idea that aberrancies in epigenetic processes contribute to the onset and progression of human immune-mediated inflammatory diseases, such as rheumatoid arthritis (RA). Epigenetic regulators of histone tail modifications play a role in chromatin accessibility and transcriptional responses to inflammatory stimuli. Among these, histone deacetylases (HDACs) regulate the acetylation status of histones and nonhistone proteins, essential for immune responses. Broad-spectrum HDAC inhibitors are well-known anti-inflammatory agents and reduce disease severity in animal models of arthritis; however, selective HDAC inhibitors remain poorly studied...
January 19, 2017: Epigenomics
https://www.readbyqxmd.com/read/28102641/evidence-of-a-reduction-over-time-in-the-behavioral-severity-of-autistic-disorder-diagnoses
#14
Andrew J O Whitehouse, Matthew N Cooper, Keely Bebbington, Gail Alvares, Ashleigh Lin, John Wray, Emma J Glasson
The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme)...
January 19, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28102620/when-does-speech-sound-disorder-matter-for-literacy-the-role-of-disordered-speech-errors-co-occurring-language-impairment-and-family-risk-of-dyslexia
#15
Marianna E Hayiou-Thomas, Julia M Carroll, Ruth Leavett, Charles Hulme, Margaret J Snowling
BACKGROUND: This study considers the role of early speech difficulties in literacy development, in the context of additional risk factors. METHOD: Children were identified with speech sound disorder (SSD) at the age of 3½ years, on the basis of performance on the Diagnostic Evaluation of Articulation and Phonology. Their literacy skills were assessed at the start of formal reading instruction (age 5½), using measures of phoneme awareness, word-level reading and spelling; and 3 years later (age 8), using measures of word-level reading, spelling and reading comprehension...
February 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#16
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#17
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#18
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102589/cover-image-volume-173a-number-2-february-2017
#19
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
The cover image, by Carl Ernst et al., is based on the Original Article Implication of LRRC4C and DPP6 in neurodevelopmental disorders, DOI: 10.1002/ajmg.a.38021.
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102573/posttraumatic-stress-disorder-and-alcohol-use-disorder-a%C3%A2-critical-review-of-pharmacologic-treatments
#20
REVIEW
Ismene L Petrakis, Tracy L Simpson
Treatment of alcohol use disorder (AUD) is complicated by the presence of psychiatric comorbidity including posttraumatic stress disorder (PTSD). This is a critical review of the literature to date on pharmacotherapy treatments of AUD and PTSD. A systematic literature search using PubMed MESH terms for alcohol and substance use disorders, PTSD, and treatment was undertaken to identify relevant randomized controlled trials (RCTs). The studies were independently evaluated (ILP and TLS) and those that evaluated the efficacy of a pharmacotherapy for individuals diagnosed with AUD and PTSD and were RCTs were selected...
January 19, 2017: Alcoholism, Clinical and Experimental Research
keyword
keyword
52517
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"