keyword
MENU ▼
Read by QxMD icon Read
search

Heterogeneous disorder

keyword
https://www.readbyqxmd.com/read/28644693/supplemental-oxygen-in-interstitial-lung-disease-an-art-in-need-of-science
#1
Kerri A Johannson, Sachin R Pendharkar, Kirk Mathison, Charlene D Fell, Jordan A Guenette, Meena Kalluri, Martin Kolb, Christopher J Ryerson
Interstitial lung disease (ILD) comprises a large and heterogeneous group of disorders that often lead to progressive fibrosis and premature death. Oxygen supplementation is typically used in advanced lung disease patients with resting hypoxemia; however, there is a paucity of evidence guiding the use of supplemental oxygen in ILD, and significant heterogeneity in clinical practice. It remains unclear whether supplemental oxygen improves clinically meaningful outcomes, and the role of ambulatory oxygen supplementation in isolated exertional hypoxemia is particularly controversial...
June 23, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28643044/pd-1-signaling-and-inhibition-in-aml-and-mds
#2
REVIEW
Faysal Haroun, Sade A Solola, Samah Nassereddine, Imad Tabbara
Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) are clinically and molecularly heterogeneous clonal myeloid disorders with a poor prognosis especially in the relapsed refractory setting and in patients above the age of 60. While allogeneic hematopoietic stem cell transplantation (ASCT) is a potentially curative approach, high relapse, morbidity, and mortality rates necessitate the development of alternative therapies. Immune checkpoint inhibitors unmask tumoral immune tolerance and have demonstrated efficacy in the treatment of chemotherapy-resistant hematologic and solid malignancies...
June 22, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#3
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28643018/heterogeneity-of-gata2-related-myeloid-neoplasms
#4
REVIEW
Shinsuke Hirabayashi, Marcin W Wlodarski, Emilia Kozyra, Charlotte M Niemeyer
The GATA2 gene codes for a master hematopoietic transcription factor that is essential for the proliferation and maintenance of hematopoietic stem and progenitor cells. Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency. Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes the most common clinical denominator of this major MDS predisposition syndrome...
June 22, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28642161/digenic-inheritance-of-mutations-in-the-cardiac-troponin-tnnt2-and-cardiac-beta-myosin-heavy-chain-myh7-as-the-cause-of-severe-dilated-cardiomyopathy
#5
Evmorfia Petropoulou, Mohammadhossein Soltani, Ali Dehghani Firoozabadi, Seyedeh Mahdieh Namayandeh, Jade Crockford, Reza Maroofian, Yalda Jamshidi
Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and depressed myocardial performance. It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM. Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28642080/impact-of-juvenile-chronic-stress-on-adult-cortico-accumbal-function-implications-for-cognition-and-addiction
#6
REVIEW
Michael J Watt, Matthew A Weber, Shaydel R Davies, Gina L Forster
Repeated exposure to stress during childhood is associated with increased risk for neuropsychiatric illness, substance use disorders and other behavioral problems in adulthood. However, it is not clear how chronic childhood stress can lead to emergence of such a wide range of symptoms and disorders in later life. One possible explanation lies in stress-induced disruption to the development of specific brain regions associated with executive function and reward processing, deficits in which are common to the disorders promoted by childhood stress...
June 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28641778/clinical-presentations-metabolic-abnormalities-and-end-organ-complications-in-patients-with-familial-partial-lipodystrophy
#7
Baris Akinci, Huseyin Onay, Tevfik Demir, Şenay Savas-Erdeve, Ramazan Gen, Ilgin Yildirim Simsir, Fatma Ela Keskin, Mehmet Sercan Erturk, Ayse Kubat Uzum, Guzin Fidan Yaylali, Nilufer Kutbay Ozdemir, Tahir Atik, Samim Ozen, Banu Sarer Yurekli, Tugce Apaydin, Canan Altay, Gulcin Akinci, Leyla Demir, Abdurrahman Comlekci, Mustafa Secil, Elif Arioglu Oral
OBJECTIVE: Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. METHODS: This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. RESULTS: Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families...
July 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28641519/neural-stem-cells-and-human-induced-pluripotent-stem-cells-to-model-rare-cns-diseases
#8
Lidia De Filippis, Cristina Zalfa, Daniela Ferrari
Despite the great effort spent over the last decades to unravel the pathological mechanisms underpinning the development of central nervous system disorders, most of them remain still unclear. In particular, the study of rare brain diseases is hurdled by the lack of post-mortem samples and of reliable epidemiological studies, thus the setting of in vitro modeling systems appears essential to dissect the puzzle of genetic and environmental alterations affecting neural cells viability and functionality The isolation and expansion in vitro of embryonic (ESC) and fetal neural stem cells (NSC) from human tissue has efficiently allowed to model several neurological diseases "in a dish" and has also provided a novel platform to test potential therapeutic strategies in a pre-clinical setting...
June 15, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28641149/thyroid-autoimmunity-in-bipolar-disorder-a-systematic-review
#9
REVIEW
Margherita Barbuti, André F Carvalho, Cristiano A Köhler, Andrea Murru, Norma Verdolini, Giovanni Guiso, Ludovic Samalin, Michael Maes, Brendon Stubbs, Giulio Perugi, Eduard Vieta, Isabella Pacchiarotti
BACKGROUND: Accumulating evidence points to the pathophysiological relevance between immune dysfunction and mood disorders. High rates of thyroid dysfunction have been found in patients with bipolar disorder (BD), compared to the general population. A systematic review of the relationship between BD and thyroid autoimmunity was performed. METHODS: Pubmed, EMBASE and PsycINFO databases were searched up till January 28th, 2017. This review has been conducted according to the PRISMA statements...
June 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28641068/centric-relation-intercuspal-position-discrepancy-and-its-relationship-with-temporomandibular-disorders-a-systematic-review
#10
Antonio Jiménez-Silva, Julio Tobar-Reyes, Sheilah Vivanco-Coke, Eduardo Pastén-Castro, Hernán Palomino-Montenegro
OBJECTIVE: The objective of this study is to assess the relationship between centric relation-intercuspal position discrepancy (CR-ICP discrepancy) and temporomandibular disorders (TMDs), by systematically reviewing the literature. MATERIALS AND METHODS: A systematic research was performed between 1960 and 2016 based on electronic databases: PubMed, Cochrane Library, Medline, Embase, Scopus, EBSCOhost, BIREME, Lilacs and Scielo, including all languages. Analytical observational clinical studies were identified...
June 22, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28640903/type-2b-von-willebrand-disease-with-or-without-large-multimers-a-distinction-of-the-two-sides-of-the-disorder-is-long-overdue
#11
Alessandra Casonato, Viviana Daidone, Eva Galletta, Antonella Bertomoro
Most, but not all patients with type 2B von Willebrand disease (VWD)-which features gain-of-function mutations in the A1 domain of von Willebrand factor (VWF)-have no circulating large VWF multimers. Similarities and differences were analysed in 33 type 2B patients, 12 with a normal and 21 with an abnormal multimer pattern, to see whether they should be considered separately. The minimum aggregating dose of ristocetin was similarly reduced in both patient groups, and modulated by their underlying VWF mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28640247/genetic-testing-impacts-the-utility-of-prospective-familial-screening-in-hypertrophic-cardiomyopathy-through-identification-of-a-nonfamilial-subgroup
#12
Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar, Adam S Helms
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family screening.ResultsThe outcome of cardiac screening on 267 family members was reported by 120 survey respondents...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28639319/diet-physical-activity-and-behavioural-interventions-for-the-treatment-of-overweight-or-obese-children-from-the-age-of-6-to-11-years
#13
REVIEW
Emma Mead, Tamara Brown, Karen Rees, Liane B Azevedo, Victoria Whittaker, Dan Jones, Joan Olajide, Giulia M Mainardi, Eva Corpeleijn, Claire O'Malley, Elizabeth Beardsmore, Lena Al-Khudairy, Louise Baur, Maria-Inti Metzendorf, Alessandro Demaio, Louisa J Ells
BACKGROUND: Child and adolescent overweight and obesity has increased globally, and can be associated with significant short- and long-term health consequences. This is an update of a Cochrane review published first in 2003, and updated previously in 2009. However, the update has now been split into six reviews addressing different childhood obesity treatments at different ages. OBJECTIVES: To assess the effects of diet, physical activity and behavioural interventions (behaviour-changing interventions) for the treatment of overweight or obese children aged 6 to 11 years...
June 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#14
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28638591/replicable-in-vivo-physiological-and-behavioral-phenotypes-of-the-shank3b-null-mutant-mouse-model-of-autism
#15
Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28638232/epidemiology-of-functional-gastrointestinal-disorders-in-children-and-adolescents-a-systematic-review
#16
Alexandre Canon Boronat, Ana Paula Ferreira-Maia, Alicia Matijasevich, Yuan-Pang Wang
AIM: To assess the prevalence of functional gastrointestinal disorders (FGIDs) in children and adolescents. METHODS: PubMed, EMBASE, and Scopus databases were searched for original articles from inception to September 2016. The literature search was made in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) recommendations. For inclusion, each study had to report epidemiological data on FGIDs in children between 4 and 18 years old and contain standardized outcome based on Rome II, III or IV criteria...
June 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28637664/expanded-repertoire-of-rasgrp2-variants-responsible-for-platelet-dysfunction-and-severe-bleeding
#17
Sarah K Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P Lambert, Carolyn M Millar, Paquita Nurden, Samya G Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, Nihr BioResource-Rare Diseases Consortium, Kathleen Freson, Michael A Laffan, Willem H Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D Mumford
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterised. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in three pedigrees with bleeding and reduced platelet aggregation responses. To better define the phenotype associated with pathogenic RASGRP2 variants, we compared high-throughput sequencing and phenotype data from 2,042 cases in pedigrees with unexplained bleeding or platelet disorders to data from 5,422 controls...
June 21, 2017: Blood
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#18
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28636913/heterogeneous-tau-tubulin-complexes-accelerate-microtubule-polymerization
#19
Xiao-Han Li, Elizabeth Rhoades
Tau is an intrinsically disordered protein with a central role in the pathology of a number of neurodegenerative diseases. Tau normally functions to stabilize neuronal microtubules, although the mechanism underlying this function is not well understood. Of note is that the interaction between tau and soluble tubulin, which has implications both in understanding tau function as well as its role in disease, is underexplored. Here we investigate the relationship between heterogeneity in tau-tubulin complexes and tau function...
June 20, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28636092/impact-of-diagnosis-of-von-willebrand-disease-on-patient-outcomes-analysis-of-medical-insurance-claims-data
#20
R F Sidonio, K M Haley, D Fallaize
The inherited bleeding disorder von Willebrand disease (VWD) is challenging to diagnose owing to disease heterogeneity, lack of a definitive laboratory test and variations in diagnostic criteria. We evaluated the impact of diagnosis and diagnostic delay on patient outcomes. The PharMetrics Plus Database was interrogated for medical claims for VWD (ICD-9 286.4) and bleeding events between 1 January 2006 and 30 June 2015. Longitudinal analysis was performed of patients newly diagnosed with VWD (≥9 months' continuous enrolment before first VWD claim) through 24 months following diagnosis...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
keyword
keyword
114966
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"