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Overlap syndrome

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https://www.readbyqxmd.com/read/28633740/parvovirus-b19-infection-in-an-adult-presenting-with-connective-tissue-disease-like-symptoms-a-report-of-the-clinical-and-histological-findings
#1
J E Liles, S C Shalin, B A White, L B Trigg, J R Kaley
Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus  B19 infection in a middle-aged woman...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633629/prevalence-of-and-risk-factors-for-severe-cognitive-and-sleep-symptoms-in-me-cfs-and-ms
#2
Vageesh Jain, Amit Arunkumar, Caroline Kingdon, Eliana Lacerda, Luis Nacul
BACKGROUND: There are considerable phenotypic and neuroimmune overlaps between myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and multiple sclerosis (MS). While the precise aetiologies of both MS and ME/CFS are unclear, evidence suggests that deterioration in cognitive function is widely prevalent in patients with either condition. Little is known about differing risk factors or exposures, which may lead to severe cognitive or sleep symptoms. This study aims to gauge the extent of cognitive and sleep symptoms in ME/CFS and MS patients participating in the UK ME/CFS Biobank and identify the characteristics of those experiencing severe symptoms...
June 20, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28631695/-chronic-stress-and-mental-disorders-in-patients-with-systemic-scleroderma-results-of-an-interdisciplinary-study
#3
O F Seravina, T A Lisitsyna, M N Starovoytova, O V Desinova, O B Kovalevskaya, D Yu Veltishchev
AIM: To analyze of the prevalence of stressful factors and mental disorders (MDs), as well as their clinical psychopathological and clinical psychological characteristics to improve the comprehensive diagnosis and treatment of systemic scleroderma (SSD). SUBJECTS AND METHODS: Examinations were performed in 110 patients (predominantly women (n=97 (88.2%); mean age, 49.9±2.47 years) with a documented diagnosis of SSD (its mean duration, 7.25±0.42 years). 62 (56...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28629398/anaplastic-astrocytoma-mimicking-progressive-multifocal-leucoencephalopathy-a-case-report-and-review-of-the-overlapping-syndromes
#4
Ema Kantorová, Michal Bittšanský, Štefan Sivák, Eva Baranovičová, Petra Hnilicová, Vladimír Nosáľ, Daniel Čierny, Kamil Zeleňák, Wolfgang Brück, Egon Kurča
BACKGROUND: Co-occurrence of multiple sclerosis (MS) and glial tumours (GT) is uncommon although occasionally reported in medical literature. Interpreting the overlapping radiologic and clinical characteristics of glial tumours, MS lesions, and progressive multifocal leukoencephalopathy (PML) can be a significant diagnostic challenge. CASE PRESENTATION: We report a case of anaplastic astrocytoma mimicking PML in a 27-year-old patient with a 15-year history of MS...
June 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28626979/electro-clinical-criteria-and-surgical-outcome-is-there-a-difference-between-mesial-and-lesional-temporal-lobe-epilepsy
#5
M Wassenaar, F S S Leijten, G-J de Haan, S G Uijl, J W Sander
OBJECTIVES: Mesial temporal lobe epilepsy syndrome (MTLE) with specific electrophysiological and clinical characteristics and hippocampal sclerosis (HS) on MRI is considered the prototype of a syndrome with good surgical prognosis. Ictal onset zones in MTLE have been found to extend outside the hippocampus and neocortical seizures often involve mesial structures. It can, thus, be questioned whether MTLE with HS is different from lesional temporal epilepsies with respect to electro-clinical characteristics and surgical prognosis...
June 18, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28626376/successful-treatment-for-chronic-hepatitis-c-autoimmune-hepatitis-overlap-syndrome-due-to-daclatasvir-and-asunaprevir
#6
Ayumi Sugiura, Shuichi Wada, Hiromitsu Mori, Takefumi Kimura, Yoshiaki Matsuda, Naoki Tanaka, Eiji Tanaka, Kendo Kiyosawa
Persistent hepatitis C virus (HCV) infection may induce autoimmune diseases and chronic hepatitis C is sometimes accompanied by autoimmune hepatitis (AIH). However, we are worried about the treatment for chronic hepatitis C-AIH overlap syndrome because interferon-based antiviral therapies may enhance autoimmunity and immunosuppressive corticosteroid administration may promote viral replication. Here, we report a patient having chronic hepatitis C-AIH overlap syndrome treated with the direct-acting antivirals (DAA), daclatasvir and asunaprevir...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28626184/a-16-year-follow-up-case-of-interstitial-pneumonia-with-systemic-sclerosis-rheumatoid-arthritis-overlap-syndrome
#7
Hideaki Yamakawa, Eri Hagiwara, Yumie Yamanaka, Satoshi Ikeda, Akimasa Sekine, Hideya Kitamura, Tomohisa Baba, Koji Okudela, Tae Iwasawa, Tamiko Takemura, Takashi Ogura
Interstitial pneumonia is a common and major comorbidity affecting the prognosis of patients with systemic sclerosis (SSc). However, there are few reported cases of SSc-rheumatoid arthritis (RA) overlap-associated interstitial pneumonia. We herein report a case in which the clinical behavior and histopathology of interstitial pneumonia with SSc-RA overlap syndrome was followed over a long clinical course. When clinicians are deciding on the treatment strategy for patients with SSc-RA overlap syndrome-associated interstitial pneumonia, a pathological examination of a surgical lung biopsy may be useful...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#8
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28621495/the-spectrum-of-pre-dementia-stages-cognitive-profile-of-motoric-cognitive-risk-syndrome-and-relationship-with-mild-cognitive-impairment
#9
H Sekhon, G Allali, C P Launay, J Chabot, O Beauchet
BACKGROUND AND PURPOSE: Motoric cognitive risk (MCR) syndrome is a pre-dementia syndrome. There is little information on the cognitive profile of individuals with MCR syndrome and its overlap with mild cognitive impairment (MCI) syndrome. This study aimed to examine and compare the cognitive performance of non-demented older community dwellers with and without MCR and MCI syndromes. METHODS: A total of 291 non-demented individuals were selected from the Gait and Alzheimer Interactions Tracking study, which is a cross-sectional study...
June 16, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#10
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28617445/acquired-cross-linker-resistance-associated-with-a-novel-spliced-brca2-protein-variant-for-molecular-phenotyping-of-brca2-disruption
#11
Stefan Meyer, Adam Stevens, Roberto Paredes, Marion Schneider, Michael J Walker, Andrew J K Williamson, Maria-Belen Gonzalez-Sanchez, Stephanie Smetsers, Vineet Dalal, Hsiang Ying Teng, Daniel J White, Sam Taylor, Joanne Muter, Andrew Pierce, Chiara de Leonibus, Davy A P Rockx, Martin A Rooimans, Elaine Spooncer, Stacey Stauffer, Kajal Biswas, Barbara Godthelp, Josephine Dorsman, Peter E Clayton, Shyam K Sharan, Anthony D Whetton
BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition syndrome with cellular cross-linker hypersensitivity. Cancers associated with BRCA2 mutations can acquire chemo-resistance on relapse. We modeled acquired cross-linker resistance with an FA-derived BRCA2-mutated acute myeloid leukemia (AML) platform...
June 15, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#12
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28612267/auto-trilevel-versus-bilevel-positive-airway-pressure-ventilation-for-hypercapnic-overlap-syndrome-patients
#13
Mei Su, De Huai, Juan Cao, Ding Ning, Rong Xue, Meijie Xu, Mao Huang, Xilong Zhang
PURPOSE: Although bilevel positive airway pressure (Bilevel PAP) therapy is usually used for overlap syndrome (OS), there is still a portion of OS patients in whom Bilevel PAP therapy could not simultaneously eliminate residual apnea events and hypercapnia. The current study was expected to explore whether auto-trilevel positive airway pressure (auto-trilevel PAP) therapy with auto-adjusting end expiratory positive airway pressure (EEPAP) can serve as a better alternative for these patients...
June 13, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28611628/overlapping-dress-and-stevens-johnson-syndrome-case-report-and-review-of-the-literature
#14
Aneline Casagranda, Mariano Suppa, Florence Dehavay, Véronique Del Marmol
Drug-induced severe cutaneous adverse reactions (SCARs) include acute generalized exanthematous pustulosis, drug reaction with eosinophilia and systemic symptoms (DRESS), and epidermal necrolysis (Stevens-Johnson syndrome [SJS], toxic epidermal necrolysis). The identification of the causal drug is crucial in order to avoid further exposure, but making the right differential diagnosis of the type of SCAR is equally important since treatment, follow-up, and prognosis of different SCARs are not the same. These syndromes are distinct entities with different clinical, biological, and histological patterns, but sometimes the early distinction between 2 SCARs can be extremely challenging, and overlapping conditions could therefore be taken into consideration, although true overlapping SCARs are very rare when using strict diagnostic criteria (described by the RegiSCAR group)...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28611549/mutation-c-943g-t-p-ala315ser-in-fgfr2-causing-a-mild-phenotype-of-crouzon-craniofacial-dysostosis-in-a-three-generation-family
#15
Luitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Martin A Mensah, Wolfram Kress
Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#16
REVIEW
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Patients with LEMS invariably experience progressive proximal muscle weakness, often accompanied by general fatigue and autonomic symptoms...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28604969/-genetic-study-of-a-fetus-with-9p-direct-duplication-deletion-syndrome
#17
Shanshan Shi, Shaobin Lin, Xiangying Lou, Weijing Li
OBJECTIVE: To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism. METHODS: A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping. RESULTS: Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604963/-phenotypic-and-genotypic-analysis-of-a-fetus-carrying-an-intermediate-22q11-2-deletion-encompassing-the-crkl-gene
#18
Shaobin Lin, Xiaohe Zheng, Heng Gu, Mingzhen Li
OBJECTIVE: To delineate the phenotypic characteristics of 22q11.2 deletion syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities. METHODS: G-banded karyotyping, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization (FISH) were performed on a fetus with tetralogy of Fallot detected by ultrasound. Correlation between the genotype and phenotype was explored after precise mapping of the breakpoints on chromosome 22q11...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604802/serological-profiling-of-the-ebv-immune-response-in-chronic-fatigue-syndrome-using-a-peptide-microarray
#19
Madlen Loebel, Maren Eckey, Franziska Sotzny, Elisabeth Hahn, Sandra Bauer, Patricia Grabowski, Johannes Zerweck, Pavlo Holenya, Leif G Hanitsch, Kirsten Wittke, Peter Borchmann, Jens-Ulrich Rüffer, Falk Hiepe, Klemens Ruprecht, Uta Behrends, Carola Meindl, Hans-Dieter Volk, Ulf Reimer, Carmen Scheibenbogen
BACKGROUND: Epstein-Barr-Virus (EBV) plays an important role as trigger or cofactor for various autoimmune diseases. In a subset of patients with Chronic Fatigue Syndrome (CFS) disease starts with infectious mononucleosis as late primary EBV-infection, whereby altered levels of EBV-specific antibodies can be observed in another subset of patients. METHODS: We performed a comprehensive mapping of the IgG response against EBV comparing 50 healthy controls with 92 CFS patients using a microarray platform...
2017: PloS One
https://www.readbyqxmd.com/read/28604731/genome-wide-association-analysis-of-insomnia-complaints-identifies-risk-genes-and-genetic-overlap-with-psychiatric-and-metabolic-traits
#20
Anke R Hammerschlag, Sven Stringer, Christiaan A de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F Blanken, Kim Dekker, Bart H W Te Lindert, Rick Wassing, Ingileif Jonsdottir, Gudmar Thorleifsson, Hreinn Stefansson, Thorarinn Gislason, Klaus Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kari Stefansson, Konrad Oexle, Eus J W Van Someren, Danielle Posthuma
Persistent insomnia is among the most frequent complaints in general practice. To identify genetic factors for insomnia complaints, we performed a genome-wide association study (GWAS) and a genome-wide gene-based association study (GWGAS) in 113,006 individuals. We identify three loci and seven genes associated with insomnia complaints, with the associations for one locus and five genes supported by joint analysis with an independent sample (n = 7,565). Our top association (MEIS1, P < 5 × 10(-8)) has previously been implicated in restless legs syndrome (RLS)...
June 12, 2017: Nature Genetics
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