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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28340057/long-term-outcome-of-pulmonary-vein-isolation-in-patients-with-paroxysmal-atrial-fibrillation-and-brugada-syndrome
#1
Giacomo Mugnai, Burak Hünük, Erwin Ströker, Diego Ruggiero, Hugo Enrique Coutino-Moreno, Ken Takarada, Valentina De Regibus, Rajin Choudhury, Juan Pablo Abugattas de Torres, Darragh Moran, Saverio Iacopino, Pasquale Filannino, Giulio Conte, Juan Sieira, Jan Poelaert, Stefan Beckers, Pedro Brugada, Carlo de Asmundis, Gian-Battista Chierchia
Aims: The therapeutical management of atrial fibrillation (AF) in the setting of Brugada syndrome (BS) might be challenging as many antiarrhythmic drugs (AADs) with sodium channel blocking properties might lead to to the development of ventricular arrhythmias. This study sought to evaluate the clinical outcome in a consecutive series of patients with BS having undergone pulmonary vein (PV) isolation by means of radiofrequency (RF) or cryoballoon (CB) ablation and the efficacy of catheter ablation for preventing inappropriate interventions delivered by implantable cardioverter defibrillators (ICD) on a 3-year follow up...
March 9, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339951/characterization-of-a-hypervirulent-fowl-adenovirus-4-with-the-novel-genotype-newly-prevalent-in-china-and-establishment-of-reproduction-infection-model-of-hydropericardium-syndrome-in-chickens
#2
Q Pan, L Liu, Y Gao, C Liu, X Qi, Y Zhang, Y Wang, K Li, L Gao, X Wang, H Cui
Severe hydropericardium syndrome (HPS) has been present in layers in the northeast of China since June 2015, with mortality rates varying from 30 to 90%. Dead layers had severe hydropericardium with pericardial volumes of 5 to 20 mL, as well as inclusion body hepatitis. Laboratory investigations led to the isolation of a fowl adenovirus strain, HLJFAd15, from the liver tissue of dead layers. Natural deletions of ORF19 and ORF27 were found in this clinical strain by complete genome sequencing, which was identified with the novel genotype recently prevalent in China...
March 4, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339796/the-identification-of-fungi-collected-from-the-ceca-of-commercial-poultry
#3
J A Byrd, D Y Caldwell, D J Nisbet
Under normal conditions, fungi are ignored unless a disease/syndrome clinical signs are reported. The scientific communities are largely unaware of the roles fungi play in normal production parameters. Numerous preharvest interventions have demonstrated that beneficial bacteria can play a role in improving productions parameters; however, most researchers have ignored the impact that fungi may have on production. The goal of the present study was to record fungi recovered from commercial broiler and layer houses during production...
February 22, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339709/clinicopathologic-correlations-of-renal-pathology-in-adult-population-of-poland
#4
Agnieszka Perkowska-Ptasinska, Artur Bartczak, Malgorzata Wagrowska-Danilewicz, Agnieszka Halon, Krzysztof Okon, Aldona Wozniak, Marian Danilewicz, Henryk Karkoszka, Andrzej Marszalek, Jolanta Kowalewska, Andrzej Mroz, Agnieszka Korolczuk, Andrzej Oko, Alicja Debska-Slizien, Beata Naumnik, Zbigniew Hruby, Marian Klinger, Kazimierz Ciechanowski, Marek Myslak, Wladyslaw Sulowicz, Andrzej Rydzewski, Andrzej Wiecek, Jacek Manitius, Tadeusz Gregorczyk, Stanislaw Niemczyk, Michal Nowicki, Ryszard Gellert, Tomasz Stompor, Monika Wieliczko, Krzysztof Marczewski, Leszek Paczek, Olga Rostkowska, Dominika Deborska-Materkowska, Grazyna Bogdanowicz, Andrzej Milkowski, Magdalena Durlik
Background: This is the first report on the epidemiology of biopsy-proven kidney diseases in Poland. Methods: The Polish Registry of Renal Biopsies has collected information on all (n = 9394) native renal biopsies performed in Poland from 2009 to 2014. Patients' clinical data collected at the time of biopsy, and histopathological diagnoses were used for epidemiological and clinicopathologic analysis. Results: There was a gradual increase in the number of native renal biopsies performed per million people (PMP) per year in Poland in 2009-14, starting from 36 PMP in 2009 to 44 PMP in 2014...
February 11, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#5
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28328248/-a8344g-mitochondrial-dna-mutation-observed-in-two-generations
#6
Anett Fekete, Kinga Hadzsiev, Judit Bene, Antónia Nászai, Petra Mátyás, Ágnes Till, Béla Melegh
This article presents the case of a 62-year-old mother and her 41-year-old daughter, who have had severe neurological symptoms for a few decades. After a long investigation period the definite diagnosis of MERRF syndrome was confirmed. After DNA isolation from our patient's blood sample we examined the mitochondrial DNA with direct sequencing. An adenine-guanine substitution was detected in the tRNA gene at position 8344, based on the sequence ferogram the heteroplasmy was over 90%. The clinical phenotype was not clearly characteristic for MERRF syndrome, adult-onset and lipomas are not typical in this disease...
March 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28327094/finger-tapping-impairments-are-highly-sensitive-for-evaluating-upper-motor-neuron-lesions
#7
Afsaneh Shirani, Braeden D Newton, Darin T Okuda
BACKGROUND: Identifying highly sensitive and reliable neurological exam components are crucial in recognizing clinical deficiencies. This study aimed to investigate finger tapping performance differences between patients with CNS demyelinating lesions and healthy control subjects. METHODS: Twenty-three patients with multiple sclerosis or clinically isolated syndrome with infratentorial and/or cervical cord lesions on MRI, and 12 healthy controls were videotaped while tapping the tip of the index finger against the tip and distal crease of the thumb using both the dominant and non-dominant hand...
March 21, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#8
(no author information available yet)
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 22, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#9
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323941/the-diverse-metabolic-roles-of-peripheral-serotonin
#10
Alyce M Martin, Richard L Young, Lex Leong, Geraint B Rogers, Nick J Spencer, Claire F Jessup, Damien J Keating
Serotonin (5-hydroxytryptamine, 5-HT) is a multi-functional bioamine with important signaling roles in a range of physiological pathways. Almost all the 5-HT in our body is synthesized in specialized enteroendocrine cells within the gastrointestinal (GI) mucosa called enterochromaffin (EC) cells. These cells provide all our circulating 5-HT. While we have long appreciated the important roles of 5-HT within the gut including the modulation of GI motility, there is recently emerging evidence of the physiological and clinical significance of gut-derived 5-HT outside of the gut...
March 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323927/exome-sequencing-reveals-mutations-in-aire-as-a-cause-of-isolated-hypoparathyroidism
#11
Dong Li, Elizabeth A Streeten, Alice Chan, Wint Lwin, Lifeng Tian, Renata Pellegrino da Silva, Cecilia E Kim, Mark S Anderson, Hakon Hakonarson, Michael A Levine
Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. Objective: To identify the underlying genetic basis for isolated HYPO in a kindred in which three of ten siblings were affected. Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Methods: We collected clinical and biochemical data and performed whole exome sequencing (WES) analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO...
February 21, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#12
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28323682/relationship-of-cognitive-function-to-motor-symptoms-and-mood-disorders-in-patients-with-isolated-dystonia
#13
Jennifer A Foley, R Saman Vinke, Patricia Limousin, Lisa Cipolotti
OBJECTIVE: To investigate the relationship of dystonia symptoms to cognitive function by comparing cognitive performance in patients with focal (cervical) and generalized dystonia subtypes and examining the differential contributions of severity of symptoms and mood disorders to cognition. BACKGROUND: Studies of the nonmotor syndrome in isolated dystonia have reported evidence of cognitive dysfunction, but the cause of this impairment remains unclear. Several studies have suggested that poor cognitive performance reflects the distracting effects of the motor symptoms and/or a mood disorder...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28323209/sox9-a-genomic-view-of-tissue-specific-expression-and-action
#14
Aleisha Symon, Vincent Harley
The SOX9 transcription factor controls cell differentiation of many cell types among vertebrates. The SOX9 gene locus is large and complex and contains various tissue-specific enhancers. Individual enhancers direct specific expression of SOX9 in chondrocytes, Sertoli cells and cranial neural crest cells. Human SOX9 mutations can lead to either the complete Campomelic Dysplasia syndrome, or isolated clinical features, depending upon whether the mutation occurs in the coding region or in regulatory regions. Chromatin Immunoprecipitation has helped to define SOX9 control of target gene expression at the genome wide level in hair follicle stem cells and in chondrocytes where SOX9 binds at super-enhancers...
March 16, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28318095/clinicopathologic-and-molecular-characterization-of-myeloid-neoplasms-with-isolated-t-6-9-p23-q34
#15
V Visconte, S Shetty, B Przychodzen, C Hirsch, J Bodo, J P Maciejewski, E D Hsi, H J Rogers
INTRODUCTION: The t(6;9)(p23;q34);DEK-NUP214 [t(6;9)] abnormality is found in 0.7-1.8% of patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). FLT3-ITD mutations are detected in t(6;9) patients. The t(6;9) abnormality is associated with poor outcomes. We studied the clinicopathologic and molecular profiles of patients with AML/MDS carrying t(6;9). METHODS: We collected clinical data of nine patients with AML/MDS with isolated t(6;9) (median age = 41 years; male/female = 4/5) and genotyped DNAs using whole exome, Sanger, and targeted sequencing...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28315624/extrapontine-myelinolysis-manifested-selectively-by-acute-severe-parkinsonian-syndrome-case-report
#16
(no author information available yet)
OBJECTIVES: Osmotic demyelination syndrome (ODMS) is a rare and serious neurologic disorder with acute myelin disintegration, usually in the pontine area (central pontine myelinolysis) and to a lesser extent, even in other areas of the central nervous system (extrapontine myelinolysis). The main underlying mechanism is the change of serum osmolality with quick correction of low mineral levels, mainly hyponatraemia. Clinical manifestation is various and depends on the localization. DESIGN: We describe an acute isolated extrapontine myelinolysis causing acute onset of parkinsonism in a 61-year-old man who developed quickly progressing parkinsonian syndrome after the rapid correction of hyponatraemia...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28301893/congenital-diaphragmatic-hernia-the-side-of-diaphragmatic-defect-and-associated-nondiaphragmatic-malformations
#17
Ruža Grizelj, Katarina Bojanić, Jurica Vuković, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
Background Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28301287/spinal-cord-lesions-a-modest-contributor-to-diagnosis-in-clinically-isolated-syndromes-but-a-relevant-prognostic-factor
#18
Georgina Arrambide, Alex Rovira, Jaume Sastre-Garriga, Carmen Tur, Joaquín Castilló, Jordi Río, Angela Vidal-Jordana, Ingrid Galán, Breogán Rodríguez-Acevedo, Luciana Midaglia, Carlos Nos, Patricia Mulero, Maria Jesús Arévalo, Manuel Comabella, Elena Huerga, Cristina Auger, Xavier Montalban, Mar Tintore
BACKGROUND: The usefulness of performing a spinal cord (SC) magnetic resonance imaging (MRI) in all clinically isolated syndromes (CIS) is controversial. OBJECTIVE: To assess the value of SC lesions for predicting multiple sclerosis (MS) diagnosis and disability accrual in CIS. METHODS: Concerning SC lesions and MS diagnosis (2010 McDonald), adjusted Cox regression analyses were performed in increasingly specific CIS groups: all cases ( n = 207), non-SC CIS ( n = 143), non-SC CIS with abnormal brain MRI ( n = 90) and non-SC CIS with abnormal brain MRI not fulfilling 2010 MS ( n = 67)...
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28301067/progressive-iron-accumulation-across-multiple-sclerosis-phenotypes-revealed-by-sparse-classification-of-deep-gray-matter
#19
Ahmed M Elkady, Dana Cobzas, Hongfu Sun, Gregg Blevins, Alan H Wilman
PURPOSE: To create an automated framework for localized analysis of deep gray matter (DGM) iron accumulation and demyelination using sparse classification by combining quantitative susceptibility (QS) and transverse relaxation rate (R2*) maps, for evaluation of DGM in multiple sclerosis (MS) phenotypes relative to healthy controls. MATERIALS AND METHODS: R2*/QS maps were computed using a 4.7T 10-echo gradient echo acquisition from 16 clinically isolated syndrome (CIS), 41 relapsing-remitting (RR), 40 secondary-progressive (SP), 13 primary-progressive (PP) MS patients, and 75 controls...
March 16, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28299457/current-trends-of-human-infections-and-antibiotic-resistance-of-the-genus-shewanella
#20
REVIEW
K Yousfi, S Bekal, V Usongo, A Touati
Shewanella spp. are commonly known as environmental bacteria and are most frequently isolated from aquatic areas. Currently, diseases syndromes and multidrug resistance have increasingly been reported in the genus Shewanella. Some species are associated with various infections, such as skin and soft tissue infections, as well as bacteremia. Generally, these bacteria are opportunistic and mostly affect people with an impaired immune system. This genus is also a probable vehicle and progenitor of antibiotic resistance genes...
March 15, 2017: European Journal of Clinical Microbiology & Infectious Diseases
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