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Overlap syndrome

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https://www.readbyqxmd.com/read/29350576/posterior-reversible-encephalopathy-syndrome-in-stroke-prone-spontaneously-hypertensive-rats-on-high-salt-diet
#1
Fanny Herisson, Iris Zhou, Jerome Mawet, E Du, Arnavaz H Barfejani, Tao Qin, Marilyn J Cipolla, Philip Z Sun, Natalia S Rost, Cenk Ayata
Stroke-prone spontaneously hypertensive rats (SHRSP) on high-salt diet are characterized by extremely high arterial pressures, and have been endorsed as a model for hypertensive small vessel disease and vascular cognitive impairment. However, rapidly developing malignant hypertension is a well-known cause of posterior reversible encephalopathy syndrome (PRES) in humans, associated with acute neurological deficits, seizures, vasogenic cerebral edema and microhemorrhages. In this study, we aimed to examine the overlap between human PRES and SHRSP on high-salt diet...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29350085/divergent-classification-methods-of-post-concussion-syndrome-after-mild-traumatic-brain-injury-prevalence-rates-risk-factors-and-functional-outcome
#2
Daphne Cloë Voormolen, Maryse C Cnossen, Suzanne Polinder, Nicole von Steinbuechel, Pieter E Vos, Juanita Antje Haagsma
Mild Traumatic Brian Injury (mTBI) is a common diagnosis and approximately one third of mTBI patients experience a variety of cognitive, emotional, psychosocial and behavioral post-concussion symptoms. When a cluster of these symptoms persists for more than three months they are often classified as post-concussion syndrome (PCS). The objective of this study was to determine prevalence rates, risk factors and functional outcome associated with PCS six months after mTBI applying divergent classification methods...
January 19, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29343274/coexistent-sickle-cell-anemia-and-autoimmune-disease-in-eight-children-pitfalls-and-challenges
#3
Valerie Li-Thiao-Te, Florence Uettwiller, Pierre Quartier, Florence Lacaille, Brigitte Bader-Meunier, Valentine Brousse, Mariane de Montalembert
BACKGROUND: Patients with sickle cell disease (SCD) present a defective activation of the alternate complement pathway that increases the risk of infection and is thought to predispose to autoimmune disease (AID). However, coexisting AID and SCD is rarely reported, suggesting possible underdiagnosis due to an overlapping of the symptoms. STUDY DESIGN: Among 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID...
January 17, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#4
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29335249/hypertension-and-diabetes-mellitus-coprediction-and-time-trajectories
#5
Vasilis Tsimihodimos, Clicerio Gonzalez-Villalpando, James B Meigs, Ele Ferrannini
Type 2 diabetes mellitus and hypertension overlap in the population. In many subjects, development of diabetes mellitus is characterized by a relatively rapid increase in plasma glucose values. Whether a similar phenomenon occurs during the development of hypertension is not known. We analyzed the pattern of blood pressure (BP) changes during the development of hypertension in patients with or without diabetes mellitus using data from the MCDS (Mexico City Diabetes Study; a population-based study of diabetes mellitus in Hispanic whites) and in the FOS (Framingham Offspring Study, a community-based study in non-Hispanic whites) during a 7-year follow-up...
January 15, 2018: Hypertension
https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#6
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331931/resting-state-fmri-signals-in-offspring-of-parents-with-bipolar-disorder-at-the-high-risk-and-ultra-high-risk-stages-and-their-relations-with-cognitive-function
#7
Kangguang Lin, Robin Shao, Rui Lu, Kun Chen, Weicong Lu, Ting Li, Jiehua Kong, Kwok-Fai So, Guiyun Xu
BACKGROUND: Bipolar disorder (BD) has been associated with dysfunctional resting-state brain functioning. However, it is still not known whether the aberrant functioning occurs and predict cognitive functioning before illness onset. AIMS: We examined the resting-state regional and network dysfunctioning, and their correlates with neurocognitive performance, in the high-risk (HR) and ultra-high-risk (UHR) stages of bipolar disorder. METHODS: Using amplitude of low-frequency fluctuations (ALFF), region homogeneity (ReHo) and hypothesis-driven region-of-interest (ROI)-based connectivity, we examined resting-state fMRI data of 8- to 25-year-old healthy offspring (HR, n = 28) and offspring with subthreshold syndromes (UHR, n = 22) of a BD parent, and age-matched healthy controls without any personal or family psychopathology (HC, n = 46)...
January 8, 2018: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29329513/the-behavioural-phenotype-of-potocki-lupski-syndrome-a-cross-syndrome-comparison
#8
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver
BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12...
January 10, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329325/classification-of-patients-with-knee-osteoarthritis-in-clinical-phenotypes-data-from-the-osteoarthritis-initiative
#9
A Dell'Isola, M Steultjens
OBJECTIVES: The existence of phenotypes has been hypothesized to explain the large heterogeneity characterizing the knee osteoarthritis. In a previous systematic review of the literature, six main phenotypes were identified: Minimal Joint Disease (MJD), Malaligned Biomechanical (MB), Chronic Pain (CP), Inflammatory (I), Metabolic Syndrome (MS) and Bone and Cartilage Metabolism (BCM). The purpose of this study was to classify a sample of individuals with knee osteoarthritis (KOA) into pre-defined groups characterized by specific variables that can be linked to different disease mechanisms, and compare these phenotypes for demographic and health outcomes...
2018: PloS One
https://www.readbyqxmd.com/read/29328521/the-central-vein-sign-differentiates-ms-from-cns-inflammatory-vasculopathies
#10
Pietro Maggi, Martina Absinta, Matteo Grammatico, Luisa Vuolo, Giacomo Emmi, Giovanna Carlucci, Gregorio Spagni, Alessandro Barilaro, Anna Maria Repice, Lorenzo Emmi, Domenico Prisco, Vittorio Martinelli, Roberta Scotti, Niloufar Sadeghi, Gaetano Perrotta, Pascal Sati, Bernard Dachy, Daniel S Reich, Massimo Filippi, Luca Massacesi
OBJECTIVES: In multiple sclerosis (MS), MRI is a sensitive tool for detecting white matter lesions, but its diagnostic specificity is still suboptimal; ambiguous cases are frequent in clinical practice. Detection of perivenular lesions in the brain (the "central vein sign") improves the pathological specificity of MS diagnosis, but comprehensive evaluation of this MRI biomarker in MS-mimicking inflammatory and/or autoimmune diseases, such as CNS inflammatory vasculopathies, is missing...
January 12, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29327271/-paraneoplastic-neurological-syndromes-a-current-summary
#11
REVIEW
D De Simoni, R Höftberger
BACKGROUND: Paraneoplastic neurological syndromes (PNNS) are remote effects of a tumor and mediated by an altered immune reaction. In the last ten years, the spectrum of PNNS has changed profoundly with the discovery of a new category of neurological diseases that are associated with antibodies against surface or synaptic antigens. In contrast to classical PNNS, patients with surface receptor autoimmunity are often highly responsive to immunotherapy. OBJECTIVES: This article provides an update on the most relevant PNNS, focusing on specific syndromes associated with antibodies against classical onconeuronal antigens as well as surface and synaptic proteins...
January 11, 2018: Der Internist
https://www.readbyqxmd.com/read/29325273/-how-to-understand-the-clinical-significance-of-autoantibodies-in-primary-biliary-cholangitis
#12
H P Yan, H P Zhang, X X Chen
Autoantibodies are important indicators for the diagnosis of primary biliary cholangitis (PBC). The autoantibodies in PBC patients are mainly antimitochondrial antibodies (AMAs) and antinuclear antibodies (ANAs). AMAs are one of the diagnostic indices of PBC. PBC-specific ANAs (nuclear dots or nuclear envelope, anti-sp100, and anti-gp210) have a high specificity in the diagnosis of AMA-negative PBC. This article reviews the clinical significance of these autoantibodies and analyzes some misconceptions about the clinical diagnosis of AMA-negative PBC and PBC-AIH overlap syndrome...
November 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29323060/spectrum-of-hepatobiliary-cystic-lesions-a-7-year-experience-at-a-tertiary-care-referral-center-in-north-india-and-review-of-literature
#13
Prasenjit Das, Pragya Sharma, Tripti Nakra, Shouriyo Ghosh, Rajni Yadav, Brijnandan Gupta, Gaurav Khanna, K S Madhusudhan, Rajesh Panwar, M K Anoop, Ragini Kilambi, Anand N Singh, Nihar R Dash, Sujoy Pal, Siddhartha Datta Gupta
CONTEXT: Cysts arising from the hepatobiliary tree are a group of heterogeneous lesions with regard to pathogenesis, clinical presentation, and radiological finding. They can be intrahepatic or extrahepatic, developmental, secondary to infective/inflammatory etiologies, as well as neoplastic. This study was conducted to determine the spectrum of hepatobiliary cysts in surgically intervened cases, with regard to their prevalence, histological spectrum, and clinicoradiological correlation, wherever possible...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#14
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 10, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29321670/clinical-and-experimental-evidence-suggest-a-link-between-kif7-and-c5orf42-related-ciliopathies-through-sonic-hedgehog-signaling
#15
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#16
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29317064/comparison-of-geographic-distributions-of-irritable-bowel-syndrome-with-inflammatory-bowel-disease-fail-to-support-common-evolutionary-roots-irritable-bowel-syndrome-and-inflammatory-bowel-diseases-are-not-related-by-evolution
#17
Andrew Szilagyi, Xiaoqing Xue
Irritable Bowel Syndrome (IBS) shares overlapping symptoms and some features of pathogenesis with Inflammatory Bowel Diseases (IBD: Crohn's disease [CD], and Ulcerative Colitis [UC]). Geographic markers such as latitude/sunshine and more recently lactase population distributions are found to be correlated with IBD. As a result of clinical and pathogenic similarities between the 2 conditions, some authorities questioned whether a connection exists between them. We compare IBS directly with IBD, and indirectly with geographic markers associated with IBD, in order to evaluate possible evolutionary links between IBS and IBD...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29315999/long-term-safety-and-efficacy-of-acotiamide-in-functional-dyspepsia-postprandial-distress-syndrome-results-from-the-european-phase-3-open-label-safety-trial
#18
J Tack, J Pokrotnieks, G Urbonas, C Banciu, V Yakusevich, I Bunganic, H Törnblom, Y Kleban, P Eavis, M Tsuchikawa, T Miyagawa
BACKGROUNDS: Acotiamide is a novel acetylcholinesterase inhibitor for treatment of postprandial distress syndrome (PDS) symptoms of functional dyspepsia (FD). This European phase 3 open-label safety trial has been conducted to evaluate the long-term safety of acotiamide and explore the efficacy of acotiamide on PDS symptoms using the validated LPDS, quality of life using SF-36 and SF-NDI, and work productivity using WPAI. METHODS: FD-PDS patients (defined by ROME III criteria) aged ≥18 years with active PDS symptoms and without predominant overlapping symptoms of epigastric pain syndrome and related disorders were enrolled to receive 100 mg acotiamide three times daily for 1 year...
January 8, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29315761/incidence-outcomes-and-resource-use-in-children-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis
#19
James W Antoon, Jennifer L Goldman, Brian Lee, Alan Schwartz
BACKGROUND/OBJECTIVES: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening cutaneous reactions, typically to drugs or infection. The incidence and outcomes of these conditions in children are unknown. The objective of this study was to report the overall burden of Stevens-Johnson syndrome and toxic epidermal necrolysis in children in the United States. METHODS: We performed a retrospective cohort analysis of children and adolescents younger than 18 years of age using the 2009 and 2012 Kids' Inpatient Database...
January 9, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29311560/a-central-role-for-pi3k-akt-signaling-pathway-in-linking-samhd1-deficiency-to-the-type-i-interferon-signature
#20
Changhoon Oh, Jeongmin Ryoo, Kiwon Park, Baek Kim, Michele B Daly, DongYeon Cho, Kwangseog Ahn
The autoimmune disorder Aicardi-Goutières syndrome (AGS) is characterized by a constitutive type I interferon response. SAMHD1 possesses both dNTPase and RNase activities and mutations in SAMHD1 cause AGS; however, how SAMHD1-deficiency causes the type I interferon response in patients with AGS remains unknown. Here, we show that endogenous RNA substrates accumulated in the absence of SAMHD1 act as a major immunogenic source for the type I interferon response. Reconstitution of SAMHD1-negative human cells with wild-type but not RNase-defective SAMHD1 abolishes spontaneous type I interferon induction...
January 8, 2018: Scientific Reports
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