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https://www.readbyqxmd.com/read/28645206/catheter-based-renal-denervation-as-therapy-for-chronic-severe-kidney-related-pain
#1
Rosa L de Jager, Niek F Casteleijn, Esther de Beus, Michiel L Bots, Evert-Jan E Vonken, Ron T Gansevoort, Peter J Blankestijn
Background: Loin pain haematuria syndrome (LPHS) and autosomal dominant polycystic kidney disease (ADPKD) are the most important non-urological conditions to cause chronic severe kidney-related pain. Multidisciplinary programmes and surgical methods have shown inconsistent results with respect to pain reduction. Percutaneous catheter-based renal denervation (RDN) could be a less invasive treatment option for these patients. Methods: Our aim was to explore the change in perceived pain and use of analgesic medication from baseline to 3, 6 and 12 months after RDN...
June 22, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#2
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28645121/effect-of-obesity-on-gestational-and-perinatal-outcomes
#3
Sônia Regina Cabral Madi, Rosa Maria Rahmi Garcia, Vandrea Carla de Souza, Renato Luís Rombaldi, Breno Fauth de Araújo, José Mauro Madi
Purpose To assess the impact of pre-pregnancy obesity (body mass index [BMI] ≥ 30 kg/m(2)) on the gestational and perinatal outcomes. Methods Retrospective cohort study of 731 pregnant women with a BMI ≥ 30 kg/m(2) at the first prenatal care visit, comparing them with 3,161 women with a BMI between 18.5 kg/m(2) and 24.9 kg/m(2). Maternal and neonatal variables were assessed. Statistical analyses reporting the demographic features of the pregnant women (obese and normal) were performed with descriptive statistics followed by two-sided independent Student's t tests for the continuous variables, and the chi-squared (χ(2)) test, or Fisher's exact test, for the categorical variables...
June 23, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28645118/outcome-of-patients-treated-for-myelodysplastic-syndromes-with-5q-deletion-after-failure-of-lenalidomide-therapy
#4
Thomas Prebet, Thomas Cluzeau, Sophie Park, Mikkael A Sekeres, Ulrich Germing, Lionel Ades, Uwe Platzbecker, Katharina Gotze, Norbert Vey, Esther Oliva, Mary M Sugrue, Cecile Bally, Charikleia Kelaidi, Najla Al Ali, Pierre Fenaux, Steven D Gore, Rami Komrokji
While lenalidomide (LEN) is the standard of care for the lower-risk myelodysplastic syndromes (MDS) patients with deletion 5q, 35% will not respond to or do not tolerate the drug. Moreover, most of the patients will lose their response after a few years. Defining the outcome of patients with LEN failure and determining the impact of subsequent therapies is therefore important to develop alternative strategies. Based on an international collaboration, we were able to compile a total of 392 patient cases of lower-risk MDS patients with 5q deletion and to analyze their outcome after failure of lenalidomide...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#5
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644935/triquetrohamate-impaction-syndrome-an-unrecognized-cause-of-ulnar-sided-wrist-pain-its-presentation-further-defined
#6
Gary M Lourie, Colin Booth, Ross Nathan
BACKGROUND: The aim of this review was to further define the clinical condition triquetrohamate (TH) impaction syndrome (THIS), an entity underreported and missed often. Its presentation, physical findings, and treatment are presented. METHODS: Between 2009 and 2014, 18 patients were diagnosed with THIS. The age, sex, hand involved, activity responsible for symptoms, and defining characteristics were recorded. The physical findings, along with ancillary studies, were reviewed...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28644851/comorbidities-in-the-diseasome-are-more-apparent-than-real-what-bayesian-filtering-reveals-about-the-comorbidities-of-depression
#7
Peter Marx, Peter Antal, Bence Bolgar, Gyorgy Bagdy, Bill Deakin, Gabriella Juhasz
Comorbidity patterns have become a major source of information to explore shared mechanisms of pathogenesis between disorders. In hypothesis-free exploration of comorbid conditions, disease-disease networks are usually identified by pairwise methods. However, interpretation of the results is hindered by several confounders. In particular a very large number of pairwise associations can arise indirectly through other comorbidity associations and they increase exponentially with the increasing breadth of the investigated diseases...
June 23, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28644175/guillain-barr%C3%A3-syndrome-after-elective-spinal-surgery
#8
Eric Yensen Chen, Corinne Stratton, Brian Mercer, Anna Hohler, Tony Y Tannoury, Chadi Tannoury
Guillain-Barré syndrome is a rare autoimmune condition characterized by ascending motor weakness of the extremities that can ascend to the diaphragm, causing substantial morbidity and mortality. This case report describes a 57-year-old man who exhibited characteristics of Guillain-Barré syndrome 9 days after undergoing lumbar fusion at L3-S1. The diagnosis was based on the patient's ascending motor weakness and areflexia and was confirmed with electromyography. The patient progressed to respiratory failure, requiring mechanical ventilation...
June 21, 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28644135/evaluation-of-thromboelastometry-parameters-as-predictive-markers-for-sinusoidal-obstruction-syndrome-in-patients-undergoing-allogeneic-stem-cell-transplantation-for-acute-leukaemia
#9
Joanna Rupa-Matysek, Lidia Gil, Ewelina Wojtasińska, Zuzanna Kanduła, Adam Nowicki, Magdalena Matuszak, Mieczysław Komarnicki
Hepatic sinusoidal obstruction syndrome (previously named veno-occlusive disease, SOS/VOD) is a serious complication of allogeneic stem cell transplantation (HSCT). Early identification of patients at risk of SOS/VOD may possibly improve the outcome and reduce mortality. Rotation thromboelastometry (ROTEM) is global assay allowing for the precise assessment of both bleeding and thrombotic conditions, however, its usefulness in patients undergoing HSCT for acute leukaemia has not been studied.We evaluated the thromboelastometry parameters in patients undergoing allogeneic HSCT for acute leukaemia to identify candidate biomarkers of SOS/VOD occurrence...
June 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28644112/susac-syndrome-misdiagnosed-as-multiple-sclerosis-with-exacerbation-by-interferon-beta-therapy
#10
Hussein Algahtani, Bader Shirah, Muhammad Amin, Eyad Altarazi, Hashem Almarzouki
Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28644061/diffusion-weighted-magnetic-resonance-imaging-in-the-assessment-of-choroid-plexus-aging
#11
Banu Alicioglu, Guliz Yilmaz, Ozgur Tosun, Nail Bulakbasi
Recent studies have pointed out dysfunction and histopathological changes of the choroid plexuses (CPs) with aging. This paper reviews apparent diffusion coefficient (ADC) values of the CPs for age-related changes. All the brain MR images of the patients between January 2013 and June 2014 in our Radiology Department were retrospectively investigated. Patients with major cranial abnormalities (brain tumors, hyperacute or acute ischemia, developmental anomalies, hemorrhage, hydrocephaly) were excluded. Diffusion-weighted images were obtained at the parameter values of b = 1000 s/mm(2) in the axial plane...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#12
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643901/ferric-carboxymaltose-in-patients-with-restless-legs-syndrome-and-nonanemic-iron-deficiency-a-randomized-trial
#13
Claudia Trenkwalder, Juliane Winkelmann, Wolfgang Oertel, Garth Virgin, Bernard Roubert, Anna Mezzacasa
BACKGROUND: Compromised iron status is important in restless legs syndrome pathophysiology. We compared the efficacy and tolerability of ferric carboxymaltose (single intravenous dose) versus placebo for restless legs syndrome treatment in iron-deficient nonanemic patients. METHODS: Patients with moderate to severe restless legs syndrome and serum ferritin < 75 μg/L (or serum ferritin 75-300 μg/L and transferrin saturation < 20%) were randomized to ferric carboxymaltose (1000 mg iron) or placebo...
June 23, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28643798/topical-administration-of-esculetin-as-a-potential-therapy-for-experimental-dry-eye-syndrome
#14
D Jiang, X Liu, J Hu
PurposeIn this study, we investigated the therapeutic effects of topical Esculetin for dry eye rabbits through the ocular tests, inflammatory factor levels and specific phosphorylated protein expressions of ERK1/2 singnal pathway.Patients and methodsThirty-two healthy adult male New Zealand white rabbits were chosen for the study. DES models were established after removing of the main lacrimal gland, Harderian gland and nictitating membrane in the left eyes and randomly divided into group DES control, group CsA, group Esculetin and group Esculetin combined with CsA (C&E), meanwhile the right eyes served as group Normal control...
June 23, 2017: Eye
https://www.readbyqxmd.com/read/28643773/a-cdc42-rhoa-regulatory-circuit-downstream-of-glycoprotein-ib-guides-transendothelial-platelet-biogenesis
#15
Sebastian Dütting, Frederique Gaits-Iacovoni, David Stegner, Michael Popp, Adrien Antkowiak, Judith M M van Eeuwijk, Paquita Nurden, Simon Stritt, Tobias Heib, Katja Aurbach, Oguzhan Angay, Deya Cherpokova, Niels Heinz, Ayesha A Baig, Maximilian G Gorelashvili, Frank Gerner, Katrin G Heinze, Jerry Ware, Georg Krohne, Zaverio M Ruggeri, Alan T Nurden, Harald Schulze, Ute Modlich, Irina Pleines, Cord Brakebusch, Bernhard Nieswandt
Blood platelets are produced by large bone marrow (BM) precursor cells, megakaryocytes (MKs), which extend cytoplasmic protrusions (proplatelets) into BM sinusoids. The molecular cues that control MK polarization towards sinusoids and limit transendothelial crossing to proplatelets remain unknown. Here, we show that the small GTPases Cdc42 and RhoA act as a regulatory circuit downstream of the MK-specific mechanoreceptor GPIb to coordinate polarized transendothelial platelet biogenesis. Functional deficiency of either GPIb or Cdc42 impairs transendothelial proplatelet formation...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643436/emotional-awareness-and-expression-training-improves-irritable-bowel-syndrome-a-randomized-controlled-trial
#16
E R Thakur, H J Holmes, N A Lockhart, J N Carty, M S Ziadni, H K Doherty, J M Lackner, H Schubiner, M A Lumley
BACKGROUND: Current clinical guidelines identify several psychological treatments for irritable bowel syndrome (IBS). IBS patients, however, have elevated trauma, life stress, relationship conflicts, and emotional avoidance, which few therapies directly target. We tested the effects of emotional awareness and expression training (EAET) compared to an evidence-based comparison condition-relaxation training-and a waitlist control condition. METHODS: Adults with IBS (N=106; 80% female, Mean age=36 years) were randomized to EAET, relaxation training, or waitlist control...
June 22, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#17
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28643204/host-factors-in-coronavirus-replication
#18
Adriaan H de Wilde, Eric J Snijder, Marjolein Kikkert, Martijn J van Hemert
Coronaviruses are pathogens with a serious impact on human and animal health. They mostly cause enteric or respiratory disease, which can be severe and life threatening, e.g., in the case of the zoonotic coronaviruses causing severe acute respiratory syndrome (SARS) and Middle East Respiratory Syndrome (MERS) in humans. Despite the economic and societal impact of such coronavirus infections, and the likelihood of future outbreaks of additional pathogenic coronaviruses, our options to prevent or treat coronavirus infections remain very limited...
June 23, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28643120/the-incidence-of-the-nephrotic-syndrome-in-childhood-in-germany
#19
Ingo Franke, Malik Aydin, Corinna Elke Llamas Lopez, Lisa Kurylowicz, Rainer Ganschow, Michael Lentze, Mark Born
BACKGROUND: The incidence of childhood nephrotic syndrome (NS) in Germany is not well known. METHODS: An ESPED-based nationwide collection of epidemiological data of children in 2005 and 2006. RESULT: The mean age of NS at onset was 5.5 ± 3.7 years. The gender ratio of boys to girls was 1.8:1. The average length of stay was 15.5 ± 11.2 days, with younger children remaining significantly longer in hospital. Steroid-resistance was more common in children ≥8 years (p = 0...
June 22, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28643070/laparoscopic-revision-of-billroth-ii-with-braun-anastomosis-into-roux-en-y-anatomy-in-a-patient-with-intestinal-malrotation
#20
Fabio Garofalo, Omar Abouzahr, Henri Atlas, Ronald Denis, Pierre Garneau, Hai Huynh, Radu Pescarus
INTRODUCTION: Various reconstructions of the gastro-intestinal tract have been described in the past after distal gastrectomy. Among these, a Billroth II (BII) anastomosis can be performed with the addition of the Omega entero-enterostomy that may theoretically reduce the alkaline reflux. Given the significant complications associated with this procedure such as biliary reflux, marginal ulceration, and afferent loop syndrome, a revision into a Roux-en-Y anatomy is generally recommended...
June 22, 2017: Surgical Endoscopy
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