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https://www.readbyqxmd.com/read/28320091/animal-models-for-assessing-the-impact-of-natural-products-on-the-aetiology-and-metabolic-pathophysiology-of-type-2-diabetes
#1
REVIEW
Md Asrafuzzaman, Yingnan Cao, Rizwana Afroz, Danielle Kamato, Susan Gray, Peter J Little
Type 2 diabetes mellitus is a complex and heterogeneous disorder which in its most common manifestation arises from insulin resistance and later insulin insufficiency. Type 2 diabetes is characterised by impaired insulin sensitivity and diagnosed as hyperglycaemia. Because of its cardiovascular consequences, Type 2 diabetes represents one of the world's leading causes of mortality and morbidity. Drug discovery and development are required to produce better ways to prevent, treat and manage diabetes and its complications...
March 15, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28319850/methylation-of-hpa-axis-related-genes-in-men-with-hypersexual-disorder
#2
Jussi Jokinen, Adrian E Boström, Andreas Chatzittofis, Diana M Ciuculete, Katarina Görts Öberg, John N Flanagan, Stefan Arver, Helgi B Schiöth
Hypersexual Disorder (HD) defined as non-paraphilic sexual desire disorder with components of compulsivity, impulsivity and behavioral addiction, and proposed as a diagnosis in the DSM 5, shares some overlapping features with substance use disorder including common neurotransmitter systems and dysregulated hypothalamic-pituitary-adrenal (HPA) axis function. In this study, comprising 67 HD male patients and 39 male healthy volunteers, we aimed to identify HPA-axis coupled CpG-sites, in which modifications of the epigenetic profile are associated with hypersexuality...
March 10, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28319689/using-a-hybrid-subtyping-model-to-capture-patterns-and-dimensionality-of-depressive-and-anxiety-symptomatology-in-the-general-population
#3
Klaas J Wardenaar, Rob B K Wanders, Margreet Ten Have, Ron de Graaf, Peter de Jonge
BACKGROUND: Researchers have tried to identify more homogeneous subtypes of major depressive disorder (MDD) with latent class analyses (LCA). However, this approach does no justice to the dimensional nature of psychopathology. In addition, anxiety and functioning-levels have seldom been integrated in subtyping efforts. Therefore, this study used a hybrid discrete-dimensional approach to identify subgroups with shared patterns of depressive and anxiety symptomatology, while accounting for functioning-levels...
March 14, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28319481/application-of-telepractice-for-head-and-neck-cancer-management-a-review-of-speech-language-pathology-service-models
#4
Elizabeth C Ward, Laurelie R Wall, Clare L Burns, Bena Cartmill, Anne J Hill
PURPOSE OF REVIEW: Head and neck cancer (HNC) is a complex and heterogeneous disease, requiring specialist intervention from a multidisciplinary team including speech language pathology (SLP). Unfortunately, multiple patient and service-related challenges exist which currently limit equitable access to SLP support for all individuals. This review highlights the existing evidence for different telepractice models designed to help patients and services optimize management of swallowing and communication disorders arising from HNC...
March 17, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28319323/further-evidence-for-specific-ifih1-mutation-as-a-cause-of-singleton-merten-syndrome-with-phenotypic-heterogeneity
#5
Maria Pettersson, Birgitta Bergendal, Johanna Norderyd, Daniel Nilsson, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand
Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5)...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319316/barriers-to-the-management-of-obstructed-defecation-according-to-colorectal-surgeons
#6
Nagham Al-Mozany, Caroline Wright, Greg O'Grady, Christopher J Young, Michael J Solomon
INTRODUCTION: Obstructive defecation (OD) has a high prevalence and disease impact, however patients often experience suboptimal management. This problem reflects the complex pathophysiology of OD, as well as health service delivery factors. This study aimed to identify factors acting as a barrier to effective OD management as perceived by specialist colorectal surgeons treating this disorder. METHOD: A postal questionnaire was administered to a bi-national sampling of colorectal specialists in Australia and New Zealand who were registered with their specialty society...
March 20, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28317099/mutations-in-ergic1-cause-arthrogryposis-multiplex-congenita-neuropathic-type
#7
Eyal Reinstein, Valerie Dersinover, Rona Lotan, Meital Gal-Tanhami, Inbal Bulokin Nachman, Eran Eyal, Jaber Lutfi, Nurit Magal, Mordechai Shohat
Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than one part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with AMC neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter...
March 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28315472/complex-postaxial-polydactyly-types-a-and-b-with-camptodactyly-hypoplastic-third-toe-zygodactyly-and-other-digit-anomalies-caused-by-a-novel-gli3-mutation
#8
Sara Mumtaz, Esra Yildiz, Karmoon Lal, Aslıhan Tolun, Sajid Malik
Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial and postaxial subtypes and subtypes A and B. Most polydactyly entities are associated with GLI3 mutation. We report on 10 affected individuals from a large Pakistani kindred initially evaluated as a possible new condition. The phenotype is postaxial polydactyly types A and B associated with zygodactyly, postaxial webbing of toes and additional features not previously reported for isolated polydactyly such as camptodactyly, hypoplasia of third toe, and wide space between hallux and second toe...
March 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28315471/a-mild-form-of-stickler-syndrome-type-ii-caused-by-mosaicism-of-col11a1
#9
Kathrine F Lauritsen, Dorte L Lildballe, Paul J Coucke, Rikke Monrad, Dorte A Larsen, Pernille A Gregersen
Stickler syndrome, a clinically as well as molecularly heterogeneous connective tissue disorder, is predominantly inherited in an autosomal dominant manner and is considered complete penetrant. Previously, mosaicism in Stickler syndrome has been reported in only a few cases. We describe a child with Stickler syndrome due to a novel splice site mutation in COL11A1. Initially, Sanger sequencing of both parents showed normal test results for the mutation. Due to mild phenotypic traits, the father was tested again using a more sensitive method (NGS), and was found to have low-grade mosaicism in various tissue samples (range 7-22% of the DNA)...
March 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28306416/the-addiction-benefits-scorecard-a-framework-to-promote-health-insurer-accountability-and-support-consumer-engagement
#10
Itai Danovitch, David Kan
Health care insurance plans covering treatment for substance use disorders (SUD) offer a wide range of benefits. Distinctions between health plan benefits are confusing, and consumers making selections may not adequately understand the characteristics or significance of the choices they have. The California Society of Addiction Medicine sought to help consumers make informed decisions about plan selections by providing education on the standard of care for SUD and presenting findings from an expert analysis of selected health plans...
March 17, 2017: Journal of Psychoactive Drugs
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#11
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#12
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306188/protein-modelling-to-understand-fgb-mutations-leading-to-congenital-hypofibrinogenaemia
#13
A Casini, R Vilar, Y Beauverd, D Aslan, K Devreese, V Mondelaers, L Alberio, C Gubert, P de Moerloose, M Neerman-Arbez
INTRODUCTION: Congenital hypofibrinogenaemia is a quantitative fibrinogen disorder characterized by proportionally decreased levels of functional and antigenic fibrinogen. Mutations accounting for quantitative fibrinogen disorders are relatively frequent in the conserved COOH-terminal globular domains of the γ and Bβ chains. The latter mutations are of particular interest since the Bβ-chain is considered the rate-limiting chain in the hepatic production of the fibrinogen hexamer. AIM: The aim of this study was to study the molecular pattern of four patients with congenital hypofibrinogenaemia...
March 17, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28304335/the-relationship-between-fatty-acids-and-different-depression-related-brain-regions-and-their-potential-role-as-biomarkers-of-response-to-antidepressants
#14
REVIEW
Maria Fernanda Fernandes, David M Mutch, Francesco Leri
Depression is a complex disorder influenced by a variety of biological and environmental factors. Due to significant heterogeneity, there are remarkable differences in how patients respond to treatment. A primary objective of psychiatric research is to identify biological markers that could be used to better predict and enhance responses to antidepressant treatments. Diet impacts various aspects of health, including depression. The fatty acid composition of the Western diet, which has a high ratio of n-6:n-3 polyunsaturated fatty acids, is associated with increased incidence of depression...
March 17, 2017: Nutrients
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#15
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28303854/clinical-auditory-phenotypes-associated-with-gata3-gene-mutations-in-familial-hypoparathyroidism-deafness-renal-dysplasia-syndrome
#16
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28303321/serial-prenatal-and-postnatal-mri-of-dystroglycanopathy-in-a-patient-with-familial-b3galnt2-mutation
#17
Mai-Lan Ho, Orit A Glenn, Eliott H Sherr, Jonathan B Strober
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy...
March 16, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28302739/changing-landscape-of-congenital-heart-disease
#18
Berto J Bouma, Barbara J M Mulder
Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302699/psychological-and-psychosocial-interventions-for-negative-symptoms-in-psychosis-systematic-review-and-meta-analysis
#19
REVIEW
Danyael Lutgens, Genevieve Gariepy, Ashok Malla
BackgroundNegative symptoms observed in patients with psychotic disorders undermine quality of life and functioning. Antipsychotic medications have a limited impact. Psychological and psychosocial interventions, with medication, are recommended. However, evidence for the effectiveness of specific non-biological interventions warrants detailed examination.AimsTo conduct a meta-analytic and systematic review of the literature on the effectiveness of non-biological treatments for negative symptoms in psychotic disorders...
March 16, 2017: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/28301963/internet-gaming-disorder-inadequate-diagnostic-criteria-wrapped-in-a-constraining-conceptual-model
#20
Vladan Starcevic
Background and aims The paper "Chaos and confusion in DSM-5 diagnosis of Internet Gaming Disorder: Issues, concerns, and recommendations for clarity in the field" by Kuss, Griffiths, and Pontes (in press) critically examines the DSM-5 diagnostic criteria for Internet gaming disorder (IGD) and addresses the issue of whether IGD should be reconceptualized as gaming disorder, regardless of whether video games are played online or offline. This commentary provides additional critical perspectives on the concept of IGD...
March 17, 2017: Journal of Behavioral Addictions
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