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Heterogeneous disorder

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https://www.readbyqxmd.com/read/27932823/hereditary-dentine-dysplasias-terminology-in-the-context-of-osteogenesis-imperfecta
#1
M Chetty, T Roberts, L X G Stephen, P Beighton
Hereditary dentine dysplasias (HDD) such as dentinogenesis imperfecta (DI) and dentine dysplasia (DD) are a group of genetic conditions characterised by an abnormal dentine structure due to disturbances in the formation, composition, or organisation of the dentine matrix. Either the primary or both primary and secondary dentition are affected to varying degrees. These disorders result from mutations in the genes encoding the major protein constituents of dentine, notably collagens and phosphoproteins. The clinical and radiological features of the hereditary dentine dysplasias (HDD) are relevant to clinical dentistry, in particular osteogenesis imperfecta (OI) which is a well-known heterogeneous genetic disorder...
December 9, 2016: British Dental Journal
https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#2
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27929804/familial-creutzfeldt-jakob-disease-case-report-and-role-of-genetic-counseling-in-post-mortem-testing
#3
Kristin Clift, Kimberly Guthrie, Eric W Klee, Nicole Boczek, Margot Cousin, Patrick Blackburn, Paldeep Atwal
Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ∼1 y of symptom onset. The cause of death was reported as "rapid onset dementia." The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD...
November 2016: Prion
https://www.readbyqxmd.com/read/27928859/mindfulness-interventions-for-psychosis-a-systematic-review-of-the-literature
#4
REVIEW
J Aust, T Bradshaw
: WHAT IS KNOWN ON THE SUBJECT?: Psychosis and the more specific diagnosis of schizophrenia constitute a major psychiatric disorder which impacts heavily on the self-esteem, functioning and quality of life of those affected. A number of mindfulness therapies have been developed in recent years, showing promising results when used with people with the disorder. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: This review of the literature included only randomized controlled trials (RCTs), rather than other typically less robust methods of research (e...
December 8, 2016: Journal of Psychiatric and Mental Health Nursing
https://www.readbyqxmd.com/read/27928050/smokeless-tobacco-and-oral-potentially-malignant-disorders-in-south-asia-a-systematic-review-and-meta-analysis
#5
REVIEW
Zohaib Khan, Sheraz Khan, Lara Christianson, Sara Rehman, Obinna Ekwunife, Florence Samkange-Zeeb
: Oral Potentially Malignant Disorders (OPMDs) are chronic lesions or conditions characterized by a potential for malignant transformation. While recent meta-analyses show that smokeless tobacco (SLT) use is a risk factor for oral cancer in South Asia, there is a lack of pooled evidence regarding SLT use and the development of OPMDs. We searched Medline via PubMed, the Science Citation Index (SCI) via Web of Science, Scopus, CINAHL, Global Index Medicus and Google Scholar databases for relevant literature using a combination of keywords and MeSH terms...
December 7, 2016: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/27928030/emerging-therapies-for-inherited-retinal-degeneration
#6
REVIEW
Hendrik P N Scholl, Rupert W Strauss, Mandeep S Singh, Deniz Dalkara, Botond Roska, Serge Picaud, José-Alain Sahel
Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these disorders and are helping to identify new therapeutic approaches, such as gene therapy, stem cell therapy, and optogenetics. Several of these approaches have entered the clinical phase of development...
December 7, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27927041/investigational-agents-for-the-management-of-huntington-s-disease
#7
Thomas Müller
An inherited, chronic progressive, neurodegenerative disorder is Huntington's disease, characterized by motor, cognitive, and psychiatric symptoms. Predictive genetic testing allows earlier diagnosis and identification of gene carriers for Huntington's disease. These individuals are ideal candidates for testing of therapeutic interventions for disease modification. Areas covered: According to queries in Pubmed, Embase and clinical register databases, research and clinical studies emerge on symptomatic and neuroprotective therapies in Huntington's disease...
December 7, 2016: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/27925785/accelerating-scientific-advancement-for-pediatric-rare-lung-disease-research-report-from-a-national-institutes-of-health-nhlbi-workshop-september-3-and-4-2015
#8
Lisa R Young, Bruce C Trapnell, Kenneth D Mandl, Daniel T Swarr, Jennifer A Wambach, Carol J Blaisdell
Pediatric rare lung disease (PRLD) is a term that refers to a heterogeneous group of rare disorders in children. In recent years, this field has experienced significant progress marked by scientific discoveries, multicenter and interdisciplinary collaborations, and efforts of patient advocates. Although genetic mechanisms underlie many PRLDs, pathogenesis remains uncertain for many of these disorders. Furthermore, epidemiology and natural history are insufficiently defined, and therapies are limited. To develop strategies to accelerate scientific advancement for PRLD research, the NHLBI of the National Institutes of Health convened a strategic planning workshop on September 3 and 4, 2015...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27925499/non-adherence-to-psychotropic-medication-among-adolescents-a-systematic-review-of-the-literature
#9
Alexander Häge, Lisa Weymann, Lucia Bliznak, Viktoria Märker, Konstantin Mechler, Ralf W Dittmann
INTRODUCTION: Whether patients take their medication as prescribed is of increasing importance in adolescent psychiatry since both the number of efficacious pharmaceutical treatments and the rate of prescriptions of psychotropic compounds are on the rise. Previous research showed high rates of medication nonadherence among both adolescents with medical disorders and adult patients with psychiatric disorders. METHODS: The present review was performed according to PRISMA guidelines and evaluates existing scientific literature concerning adherence to psychotropic medication among adolescents...
December 7, 2016: Zeitschrift Für Kinder- und Jugendpsychiatrie und Psychotherapie
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#10
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#11
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27921436/-diabetes-mellitus-in-older-adults-from-the-point-of-view-of-the-clinical-diabetologist
#12
Alena Šmahelová
Disorders of glucose homeostasis affect quite a large part of the older population and their incidence including manifest diabetes is growing. Diabetes in older adults is associated with an increased risk of geriatric syndrome expressed in various ways (decrease in muscle size, functional disability, frailty) and early mortality. Diabetes care for the elderly requires, also in view of heterogeneity of diabetes itself, an individual specific approach. This involves not only diagnostics and a clinical picture, but also the treatment goals and the therapy of diabetes and complications in itself...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921415/the-roles-of-t-helper-1-t-helper-17-and-regulatory-t-cells-in-the-pathogenesis-of-sarcoidosis
#13
Esmaeil Mortaz, Fatemeh Rezayat, Davar Amani, Arda Kiani, Johan Garssen, Ian M Adcock, Aliakbar Velayati
Sarcoidosis is a systemic granulomatous disorder of unidentified etiology, with a heterogeneous clinical presentation. It is characterized by a reduced delayed-type hypersensitivity to tuberculin and common antigens. The balance between Th1, Th17 and Regulatory T(Treg) cells controls T-cell proliferation and activation.The Th17/Treg ratio in the peripheral blood and bronchoalveolar lavage fluidis increased in patients with active sarcoidosis. Amplified IL-17A expression in granulomas and the presence of IL-17A+, IL-17A+IL-4+ and IL-17A+IFN-γ+ memory T helper cells in the circulation and BAL indicate Th17 cell involvement in granuloma induction and/or maintenance in sarcoidosis...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921035/genetics-underlying-an-individualized-approach-to-adult-spinal-disorders
#14
REVIEW
Corey T Walker, Phillip A Bonney, Nikolay L Martirosyan, Nicholas Theodore
Adult spinal disorders are a significant cause of morbidity across the world and carry significant health and economic burdens. Genetic predispositions are increasingly considered for these conditions and are becoming understood. Advances in molecular technologies since the mid-1990s have made possible genetic characterizations of these diseases in many populations, and recent findings have provided insight into the underlying pathophysiologic mechanisms. These studies have made clear the genetic heterogeneity producing clinical phenotypes and suggest that individualized treatments are possible in the future...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#15
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920723/sex-dependent-anti-stress-effect-of-an-%C3%AE-5-subunit-containing-gabaa-receptor-positive-allosteric-modulator
#16
Sean C Piantadosi, Beverly J French, Michael M Poe, Tamara Timić, Bojan D Marković, Mohan Pabba, Marianne L Seney, Hyunjung Oh, Beverley A Orser, Miroslav M Savić, James M Cook, Etienne Sibille
Rationale: Current first-line treatments for stress-related disorders such as major depressive disorder (MDD) act on monoaminergic systems and take weeks to achieve a therapeutic effect with poor response and low remission rates. Recent research has implicated the GABAergic system in the pathophysiology of depression, including deficits in interneurons targeting the dendritic compartment of cortical pyramidal cells. Objectives: The present study evaluates whether SH-053-2'F-R-CH3 (denoted "α5-PAM"), a positive allosteric modulator selective for α5-subunit containing GABAA receptors found predominantly on cortical pyramidal cell dendrites, has anti-stress effects...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27920663/asd-and-genetic-associations-with-receptors-for-oxytocin-and-vasopressin-avpr1a-avpr1b-and-oxtr
#17
Sunday M Francis, Soo-Jeong Kim, Emily Kistner-Griffin, Stephen Guter, Edwin H Cook, Suma Jacob
Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#18
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#19
Arjun Swami, Varinder Kaur
von Willebrand disease (vWD) is the most common inherited disorder of hemostasis and comprises a spectrum of heterogeneous subtypes. Significant advances have been made in understanding von Willebrand factor (vWF) gene mutations, resultant physiologic deficits in the vWF peptide, and their correlation to clinical presentation. Diagnostic tests for this disorder are complex, and interpretation requires a thorough understanding of the underlying pathophysiology by the practicing physician. The objective of this review is to summarize our current understanding of pathophysiology, laboratory investigations, and evolving treatment paradigm of vWD with the availability of recombinant von Willebrand factor...
December 5, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27920025/biology-and-genetics-of-prp-prion-strains
#20
Sina Ghaemmaghami
Prion diseases are a group of fatal neurodegenerative disorders caused by the misfolding of the cellular prion protein (PrP(C)) into a pathogenic conformation (PrP(Sc)). PrP(Sc) is capable of folding into multiple self-replicating prion strains that produce phenotypically distinct neurological disorders. Evidence suggests that the structural heterogeneity of PrP(Sc) is the molecular basis of strain-specific prion properties. The self-templating of PrP(Sc) typically ensures that prion strains breed true upon passage...
December 5, 2016: Cold Spring Harbor Perspectives in Medicine
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