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https://www.readbyqxmd.com/read/29786895/deep-brain-stimulation-treated-dystonia-trajectory-via-status-dystonicus
#1
Elodie Nerrant, Victoria Gonzalez, Christophe Milesi, Xavier Vasques, Diane Ruge, Thomas Roujeau, Isabel De Antonio Rubio, Fabienne Cyprien, Emilie Chan Seng, Diane Demailly, Agathe Roubertie, Alain Boularan, Fréderic Greco, Pierre-François Perrigault, Gilles Cambonie, Philippe Coubes, Laura Cif
BACKGROUND: Status dystonicus (SD) is a life-threatening condition. OBJECTIVE AND METHODS: In a dystonia cohort who developed status dystonicus, we analyzed demographics, background dystonia phenomenology and complexity, trajectory previous to-, via status dystonicus episodes, and evolution following them. RESULTS: Over 20 years, 40 of 328 dystonia patients who were receiving DBS developed 58 status dystonicus episodes. Dystonia was of pediatric onset (95%), frequently complex, and had additional cognitive and pyramidal impairment (62%) and MRI alterations (82...
May 22, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29786874/meta-analysis-of-the-association-of-alcohol-related-social-media-use-with-alcohol-consumption-and-alcohol-related-problems-in-adolescents-and-young-adults
#2
REVIEW
Brenda L Curtis, Samantha J Lookatch, Danielle E Ramo, James R McKay, Richard S Feinn, Henry R Kranzler
Despite the pervasive use of social media by young adults, there is comparatively little known about whether, and how, engagement in social media influences this group's drinking patterns and risk of alcohol-related problems. We examined the relations between young adults' alcohol-related social media engagement (defined as the posting, liking, commenting, and viewing of alcohol-related social media content) and their drinking behavior and problems. We conducted a systematic review and meta-analysis of studies evaluating the association of alcohol consumption and alcohol-related problems with alcohol-related social media engagement...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786003/spontaneous-subconjunctival-abscess-in-congenital-lamellar-ichthyosis
#3
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785866/impact-of-personality-disorder-cluster-on-depression-outcomes-within-collaborative-care-management-model-of-care
#4
Merit P George, Gregory M Garrison, Zachary Merten, Dagoberto Heredia, Cesar Gonzales, Kurt B Angstman
BACKGROUND: Previous studies have suggested that having a comorbid personality disorder (PD) along with major depression is associated with poorer depression outcomes relative to those without comorbid PD. However, few studies have examined the influence of specific PD cluster types. The purpose of the current study is to compare depression outcomes between cluster A, cluster B, and cluster C PD patients treated within a collaborative care management (CCM), relative to CCM patients without a PD diagnosis...
January 2018: Journal of Primary Care & Community Health
https://www.readbyqxmd.com/read/29785796/recent-advances-in-understanding-inheritance-of-holoprosencephaly
#5
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé
Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods...
May 22, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29785631/eating-disorders-risk-among-medical-students-a-global-systematic-review-and-meta-analysis
#6
REVIEW
Haitham Jahrami, Mai Sater, Ahmed Abdulla, Mo'ez Al-Islam Faris, Ahmed AlAnsari
PURPOSE: Medical students appear to be a high-risk group to develop psychological problems including eating disorders (ED). The prevalence estimates of ED risk vary greatly between studies. This systematic review and meta-analysis was done to estimate the prevalence of ED risk among medical students. METHODS: An electronic search of EMBASE, MEDLINE, ProQuest and Google Scholar was conducted. Studies that reported the prevalence of ED risk among medical students and were published in English peer-reviewed journals between 1982 and 2017 were included...
May 21, 2018: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/29785110/prefrontoparietal-dysfunction-during-emotion-regulation-in-anxiety-disorder-a-meta-analysis-of-functional-magnetic-resonance-imaging-studies
#7
Hai-Yang Wang, Xiao-Xia Zhang, Cui-Ping Si, Yang Xu, Qian Liu, He-Tao Bian, Bing-Wei Zhang, Xue-Lin Li, Zhong-Rui Yan
Objective: Impairments in emotion regulation, and more specifically in cognitive reappraisal, are thought to play a key role in the pathogenesis of anxiety disorders. However, the available evidence on such deficits is inconsistent. To further illustrate the neurobiological underpinnings of anxiety disorder, the present meta-analysis summarizes functional magnetic resonance imaging (fMRI) findings for cognitive reappraisal tasks and investigates related brain areas. Methods: We performed a comprehensive series of meta-analyses of cognitive reappraisal fMRI studies contrasting patients with anxiety disorder with healthy control (HC) subjects, employing an anisotropic effect-size signed differential mapping approach...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29784534/presynaptic-dopaminergic-neuroimaging-in-rem-sleep-behavior-disorder-a-systematic-review-and-meta-analysis
#8
REVIEW
Matteo Bauckneht, Andrea Chincarini, Fabrizio De Carli, Michele Terzaghi, Silvia Morbelli, Flavio Nobili, Dario Arnaldi
The presence of polysomnography-confirmed REM sleep behavior disorder (RBD) is the stronger risk factor for having prodromal Parkinson disease (PD), followed by abnormal presynaptic dopaminergic radionuclide neuroimaging. Aim of the review is to conduct a meta-analysis of literature data regarding presynaptic dopaminergic neuroimaging in RBD. A literature search was conducted, resulting in 16 papers that met the inclusion criteria. Clinical and neuroimaging data were extracted. The studies are heterogeneous, especially for neuroimaging methodology...
April 22, 2018: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29784533/long-qt-syndrome-a-comprehensive-review-of-the-literature-and-current-evidence
#9
REVIEW
Syed Raza Shah, Ki Park
Long QT syndrome (LQT) represents a heterogeneous family of cardiac electrophysiologic disorders characterized by QT prolongation and T-wave abnormalities on the electrocardiogram. It is commonly associated with syncope, however, sudden cardiac death can occur due to torsades de pointes. LQT is a clinical diagnosis and should be suspected in individuals on the basis of clinical presentation, family history and electrocardiogram characteristics. Management is focused on the prevention of syncope and ultimately sudden death...
May 10, 2018: Current Problems in Cardiology
https://www.readbyqxmd.com/read/29784239/paraneoplastic-syndromes-in-ophthalmology
#10
REVIEW
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation...
May 18, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29784061/understanding-developmental-language-disorder-the-helsinki-longitudinal-sli-study-helsli-a-study-protocol
#11
Marja Laasonen, Sini Smolander, Pekka Lahti-Nuuttila, Miika Leminen, Hanna-Reetta Lajunen, Kati Heinonen, Anu-Katriina Pesonen, Todd M Bailey, Emmanuel M Pothos, Teija Kujala, Paavo H T Leppänen, Christopher W Bartlett, Ahmed Geneid, Leena Lauronen, Elisabet Service, Sari Kunnari, Eva Arkkila
BACKGROUND: Developmental language disorder (DLD, also called specific language impairment, SLI) is a common developmental disorder comprising the largest disability group in pre-school-aged children. Approximately 7% of the population is expected to have developmental language difficulties. However, the specific etiological factors leading to DLD are not yet known and even the typical linguistic features appear to vary by language. We present here a project that investigates DLD at multiple levels of analysis and aims to make the reliable prediction and early identification of the difficulties possible...
May 21, 2018: BMC Psychology
https://www.readbyqxmd.com/read/29783935/identification-of-a-novel-nonsense-mutation-in-the-unc13d-gene-from-a-patient-with-hemophagocytic-lymphohistiocytosis-a-case-report
#12
Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. CASE PRESENTATION: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. The patient, who presented typical symptoms, was diagnosed with HLH based on HLH-2004 guidelines...
May 21, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29783230/comprehensive-patterns-of-comorbidity-copd-and-depression-aspects-of-treatment
#13
Natalia V Moisieieva, Liliya V Burya, Anna A Kapustianskaya, Iryna A Kolenko, Maria A Rumyantseva, Oleksii H Shumeiko
OBJECTIVE: Introduction: Data on the prevalence of psychopathological disorders in the exacerbation of chronic obstructive pulmonary disease (COPD) are very heterogeneous. COPD and depression have common predisposing factors. The aim: The aim of the research is to conduct a comprehensive assessment of the effect of paroxetine on the level of depressive disorders in the exacerbation of severe degree COPD in women. PATIENTS AND METHODS: Materials and methods: The study included patients with severe degree COPD and depressive disorder...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783094/the-relation-of-parent-alcohol-disorder-to-young-adult-drinking-outcomes-mediated-by-parenting-effects-of-developmentally-limited-versus-persistent-parent-alcohol-disorder
#14
Ariel Sternberg, Danielle Pandika, Kit K Elam, Laurie Chassin
BACKGROUND: Parent alcohol use disorder (AUD) is a well-established risk factor for the development of offspring AUD and is associated with poor parenting. However, few studies have examined heterogeneity in trajectories of parental AUD and its influence on adolescent offspring drinking, and no studies to date have considered the differential risk to offspring conferred by parental AUDs that are limited to early adulthood. Specifically, AUDs limited to the period of emerging adulthood may confer less risk to a child's environment as recovery following emerging adulthood coincides with the typical ages of entry into the parenting role...
April 25, 2018: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/29782070/evolving-patterns-in-the-diagnosis-and-management-of-allergy-mediated-disorders
#15
Khashayar Arianpour, Peter F Svider, Brian Yuhan, Zamaan Hooda, Jean Anderson Eloy, Adam J Folbe
BACKGROUND: This analysis explores the increasing heterogeneity of trends in allergy management under the premise that the practice of allergy has undergone significant changes in national economics, healthcare delivery, and treatment options from 2007 to 2016. METHODS: Centers for Medicare and Medicaid Services (CMS) data were obtained for: (1) temporal trends in allergy immunotherapy injection (Current Procedural Terminology [CPT] codes 95115, 95117) and testing (CPT 95004, 95024) from 2007 to 2016; (2) geographic trends; and (3) practitioners administering immunotherapy...
May 21, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#16
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29781019/complex-strain-induced-structural-changes-observed-in-fibrin-assembled-in-human-plasma
#17
G Portale, J Torbet
The structure of the core scaffold of blood clots, the interlinked 3-dimensional network of fibrin fibers, is modified by mechanical forces generated by platelet driven clot retraction, wound repair and shear stress through blood flow. Here X-ray diffraction is used to investigate how uniaxial strain, ε (ε = extension/original length), alters fiber structure in highly aligned human plasma clots covalently cross-linked by Factor XIIIa. Three stretch sensitive axially repeating structures are identified. Firstly, the foundation structure with an initial ≈22 nm axial repeat stretches, fades then disappears at ε ≈ 0...
May 21, 2018: Nanoscale
https://www.readbyqxmd.com/read/29780592/preleukemic-and-second-hit-mutational-events-in-an-acute-myeloid-leukemia-patient-with-a-novel-germline-runx1-mutation
#18
Isaac Ks Ng, Joanne Lee, Christopher Ng, Bustamin Kosmo, Lily Chiu, Elaine Seah, Michelle Meng Huang Mok, Karen Tan, Motomi Osato, Wee-Joo Chng, Benedict Yan, Lip Kun Tan
Background: Germline mutations in the RUNX1 transcription factor give rise to a rare autosomal dominant genetic condition classified under the entity: Familial Platelet Disorders with predisposition to Acute Myeloid Leukaemia (FPD/AML). While several studies have identified a myriad of germline RUNX1 mutations implicated in this disorder, second-hit mutational events are necessary for patients with hereditary thrombocytopenia to develop full-blown AML. The molecular picture behind this process remains unclear...
2018: Biomarker Research
https://www.readbyqxmd.com/read/29780342/long-term-efficacy-of-psychosocial-treatments-for-adults-with-attention-deficit-hyperactivity-disorder-a-meta-analytic-review
#19
Carlos López-Pinar, Sonia Martínez-Sanchís, Enrique Carbonell-Vayá, Javier Fenollar-Cortés, Julio Sánchez-Meca
Background: Recent evidence suggests that psychosocial treatments, particularly cognitive-behavioral therapy (CBT), are effective interventions for adult attention deficit hyperactivity disorder (ADHD). The objective of this review was to determine the long-term efficacy of psychosocial interventions in improving clinically relevant variables, including ADHD core symptoms, clinical global impression (CGI), and global functioning. Methods: In total, nine randomized controlled trials and three uncontrolled single-group pretest-posttest studies were included...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29779967/a-comparison-of-the-united-states-and-international-perspective-on-chronic-urticaria-guidelines
#20
REVIEW
Torsten Zuberbier, Jonathan A Bernstein
Urticaria is a heterogeneous skin disorder that may be acute or chronic and is defined by the appearance of wheals, angioedema, or both. The European perspective is expressed in a recent international guideline and the American perspective has been based on the US Joint Task Force chronic urticaria practice parameter published in 2014. Both the international guideline (initiated by the European societies European Academy of Allergology and Clinical Immunology [EAACI]/Global Allergy and Asthma European Network [GA2 LEN]/European Dermatology Forum [EDF] in collaboration with the World Allergy Organization [WAO]) and the US (American Academy of Allergy, Asthma & Immunology/American College of Allergy, Asthma and Immunology) guideline have been developed to help direct primary care physicians and specialists in the management of their patients with urticaria...
May 18, 2018: Journal of Allergy and Clinical Immunology in Practice
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