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Hughe's syndrome

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https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#1
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27921062/long-qt-syndrome-and-duodenal-ampullary-adenoma-a-new-association
#2
F N U Asad-Ur-Rahman, Laura Hughes, Muhammad Talha Khan, Muhammad Khalid Hasan, Irteza Inayat
KCNQ1 gene mutation has a well-known association with long QT syndrome (LQTS). However, recent studies suggest that it may be implicated in intestinal neoplasia. We present a 27-year-old Hispanic man with a known history of LQTS secondary to KCNQ1 mutation, who presented with painless jaundice. Endoscopic retrograde pancreatic cholangiography revealed a prominent ampulla, with histology consistent with ampullary adenoma with high-grade dysplasia. Further endoscopic studies did not suggest familial adenomatous polyposis...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27903855/fitz-hugh-curtis-syndrome-consequent-to-a-wound-infection-following-removal-of-a-peritoneal-dialysis-catheter
#3
Tal Zilberman-Daniels, Keren Cohen-Hagai, Yael Einbinder, Alexandra Osadchy, Sydney Benchetrit, Ze'ev Korzets
Fitz-Hugh-Curtis syndrome (FHCS) is a condition characterized by inflammation of the liver capsule (perihepatitis) and adjacent peritoneal surfaces. We report a case of FHCS developing in a peritoneal dialysis (PD) patient in whom catheter removal due to recurrent peritonitis was complicated by post-operative wound infection. To the best of our knowledge, this is the first case description of FHCS in the context of PD.
November 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27901481/human-pancreatic-cancer-xenografts-recapitulate-key-aspects-of-cancer-cachexia
#4
Daniel Delitto, Sarah M Judge, Andrea E Delitto, Rachel L Nosacka, Fernanda G Rocha, Bayli B DiVita, Michael H Gerber, Thomas J George, Kevin E Behrns, Steven J Hughes, Shannon M Wallet, Andrew R Judge, Jose G Trevino
Cancer cachexia represents a debilitating syndrome that diminishes quality of life and augments the toxicities of conventional treatments. Cancer cachexia is particularly debilitating in patients with pancreatic cancer (PC). Mechanisms responsible for cancer cachexia are under investigation and are largely derived from observations in syngeneic murine models of cancer which are limited in PC. We evaluate the effect of human PC cells on both muscle wasting and the systemic inflammatory milieu potentially contributing to PC-associated cachexia...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27899485/circulating-microrna-122-is-associated-with-the-risk-of-new-onset-metabolic-syndrome-and-type-2-diabetes
#5
Peter Willeit, Philipp Skroblin, Alexander R Moschen, Xiaoke Yin, Dorothee Kaudewitz, Anna Zampetaki, Temo Barwari, Meredith Whitehead, Cristina M Ramírez, Leigh Goedeke, Noemi Rotllan, Enzo Bonora, Alun D Hughes, Peter Santer, Carlos Fernández-Hernando, Herbert Tilg, Johann Willeit, Stefan Kiechl, Manuel Mayr
MicroRNA-122 (miR-122) is abundant in the liver and involved in lipid homeostasis, but its relevance to the long-term risk of developing metabolic disorders is unknown. We therefore measured circulating miR-122 in the prospective population-based Bruneck Study (n=810; survey year: 1995). Circulating miR-122 was associated with prevalent insulin resistance, obesity, metabolic syndrome, type-2 diabetes, and an adverse lipid profile. Among 92 plasma proteins and 135 lipid subspecies quantified with mass spectrometry, it correlated inversely with zinc-alpha-2-glycoprotein and positively with afamin, complement-factor H, VLDL-associated apolipoproteins, and lipid subspecies containing monounsaturated and saturated fatty acids...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27894380/an-attention-and-interpretation-bias-for-illness-specific-information-in-chronic-fatigue-syndrome
#6
A M Hughes, T Chalder, C R Hirsch, R Moss-Morris
BACKGROUND: Studies have shown that specific cognitions and behaviours play a role in maintaining chronic fatigue syndrome (CFS). However, little research has investigated illness-specific cognitive processing in CFS. This study investigated whether CFS participants had an attentional bias for CFS-related stimuli and a tendency to interpret ambiguous information in a somatic way. It also determined whether cognitive processing biases were associated with co-morbidity, attentional control or self-reported unhelpful cognitions and behaviours...
November 29, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27875283/does-persistent-inflammatory-catabolic-syndrome-exist-in-critically-ill-neonates
#7
Nicole Ellis, Caitlin Hughes, Vera Mazurak, Chloe Joynt, Bodil Larsen
BACKGROUND: Persistent inflammatory catabolic syndrome (PICS) has not been described in the infant population. This study proposes a definition of PICS in critically ill infants. METHODS: A published adult criterion of PICS was modified using anthropometric and biochemical reference ranges for infants. A prospective chart review of admissions to a tertiary surgical neonatal intensive care unit (NICU) was performed over 65 days. Demographic, anthropometric, biochemical, and other clinical variables such as length of stay and medication use were collected daily throughout admission...
October 10, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27857121/guillain-barr%C3%A3-syndrome-a-century-of-progress
#8
REVIEW
John A Goodfellow, Hugh J Willison
In 1916, Guillain, Barré and Strohl reported on two cases of acute flaccid paralysis with high cerebrospinal fluid protein levels and normal cell counts - novel findings that identified the disease we now know as Guillain-Barré syndrome (GBS). 100 years on, we have made great progress with the clinical and pathological characterization of GBS. Early clinicopathological and animal studies indicated that GBS was an immune-mediated demyelinating disorder, and that severe GBS could result in secondary axonal injury; the current treatments of plasma exchange and intravenous immunoglobulin, which were developed in the 1980s, are based on this premise...
November 18, 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27846348/pharmacological-treatment-other-than-corticosteroids-intravenous-immunoglobulin-and-plasma-exchange-for-guillain-barr%C3%A3-syndrome
#9
REVIEW
Jane Pritchard, Richard Ac Hughes, Robert Dm Hadden, Ruth Brassington
BACKGROUND: Plasma exchange and intravenous immunoglobulin, but not corticosteroids, are beneficial in Guillain-Barré syndrome (GBS). The efficacy of other pharmacological agents is unknown. This review was first published in 2011 and updated in 2013 and 2016. OBJECTIVES: To assess the effects of pharmacological agents other than plasma exchange, intravenous immunoglobulin and corticosteroids for GBS. SEARCH METHODS: On 18 January 2016, we searched the Cochrane Neuromuscular Specialised Register, Cochrane Central Register of Controlled Trials, MEDLINE, and Embase for treatments for GBS...
November 15, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27834169/persistent-fever-with-chills-and-an-endocardial-mass-in-a-child-an-unusual-presentation-of-hughes-stovin-syndrome
#10
Marianna Fabi, Francesca Lami, Maurizio Zompatori
A 12-year-old boy with a right atrium endocardial mass was initially diagnosed as having Lemierre's syndrome on the basis of previous mastoiditis and jugular vein and cerebral venous thrombosis. Lack of response to antibiotics, persistent high fever with chills, acute-phase reactants, and peripheral arterial pseudoaneurysms made us reconsider the diagnosis. Only after the late appearance of radiological pulmonary lesions and recognition of pulmonary artery aneurysms, Hughes-Stovin syndrome was diagnosed. Hughes-Stovin syndrome is an exceedingly rare vasculitis, especially in childhood, consisting of multiple pulmonary artery aneurysms and deep venous thromboses...
November 11, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27821382/a-prospective-multicenter-randomized-phase-ii-study-to-evaluate-the-efficacy-and-safety-of-eculizumab-in-patients-with-guillain-barr%C3%A3-syndrome-gbs-protocol-of-japanese-eculizumab-trial-for-gbs-jet-gbs
#11
Nobuko Yamaguchi, Sonoko Misawa, Yasunori Sato, Kengo Nagashima, Kanako Katayama, Yukari Sekiguchi, Yuta Iwai, Hiroshi Amino, Tomoki Suichi, Takanori Yokota, Yoichiro Nishida, Nobuo Kohara, Koichi Hirata, Kazutoshi Nishiyama, Ichiro Yabe, Ken-Ichi Kaida, Norihiro Suzuki, Hiroyuki Nodera, Shoji Tsuji, Haruki Koike, Jun-Ichi Kira, Hideki Hanaoka, Susumu Kusunoki, Satoshi Kuwabara
BACKGROUND: Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy that causes acute flaccid paralysis. Immunoglobulin and plasma exchange are established treatments for GBS; however, a substantial number of patients, particularly those with severe disease, have poor recovery and residual deficits. Recent studies suggest that complement activation plays a pivotal role in GBS-associated axonal degeneration, and eculizumab is a humanized monoclonal antibody that specifically binds to complement component 5 and potently inhibits complement activation...
November 7, 2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/27811461/fitz-hugh-curtis-syndrome-an-incidental-diagnostic-finding-in-an-infertility-workup
#12
R C Onoh, C C Mgbafuru, S E Onubuogu, I Ugwuoke
A case of Fitz-Hugh-Curtis syndrome in a 32-year-old para 1+1 is reported. She presented with inability to conceive of 4 years duration. Her husband's semen analysis was within normal range. She had a hysterosalpingogram that showed bilateral tubal blockage and clinical assessment showed right sided abdominal tenderness, cervical excitation tenderness, and adnexa tenderness. The endocervical swab test for Chlamydia trachomatis was a positive. Laparoscopy and dye test showed adhesion bands on the under surface of the liver (the violin string appearance)...
November 2016: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/27801990/inhibition-of-complement-in-guillain-barr%C3%A3-syndrome-the-ica-gbs-study
#13
Amy I Davidson, Susan K Halstead, John A Goodfellow, Govind Chavada, Arup Mallik, James Overell, Michael P Lunn, Alex McConnachie, Pieter van Doorn, Hugh J Willison
The outcome of Guillain-Barré syndrome remains unchanged since plasma exchange and intravenous immunoglobulin were introduced over 20 years ago. Pathogenesis studies on GBS have identified the terminal component of complement cascade as a key disease mediator and therapeutic target. We report the first use of terminal complement pathway inhibition with eculizumab in humans with GBS. In a randomised, double-blind, placebo-controlled trial, 28 subjects eligible on the basis of GBS disability grade of at least 3 were screened, of whom 8 (29%) were randomised...
November 1, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27790627/microarray-screening-of-guillain-barr%C3%A3-syndrome-sera-for-antibodies-to-glycolipid-complexes
#14
Susan K Halstead, Gabriela Kalna, Mohammad B Islam, Israt Jahan, Quazi D Mohammad, Bart C Jacobs, Hubert P Endtz, Zhahirul Islam, Hugh J Willison
OBJECTIVE: To characterize the patterns of autoantibodies to glycolipid complexes in a large cohort of Guillain-Barré syndrome (GBS) and control samples collected in Bangladesh using a newly developed microarray technique. METHODS: Twelve commonly studied glycolipids and lipids, plus their 66 possible heteromeric complexes, totaling 78 antigens, were applied to polyvinylidene fluoride-coated slides using a microarray printer. Arrays were probed with 266 GBS and 579 control sera (2 μL per serum, diluted 1/50) and bound immunoglobulin G detected with secondary antibody...
December 2016: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27789416/compound-heterozygous-variants-in-nbas-as-a-cause-of-atypical-osteogenesis-imperfecta
#15
M Balasubramanian, J Hurst, S Brown, N J Bishop, P Arundel, C DeVile, R C Pollitt, L Crooks, D Longman, J F Caceres, F Shackley, S Connolly, J H Payne, A C Offiah, D Hughes, M J Parker, W Hide, T M Skerry
BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence)...
January 2017: Bone
https://www.readbyqxmd.com/read/27786306/fully-automated-grey-and-white-matter-spinal-cord-segmentation
#16
Ferran Prados, M Jorge Cardoso, Marios C Yiannakas, Luke R Hoy, Elisa Tebaldi, Hugh Kearney, Martina D Liechti, David H Miller, Olga Ciccarelli, Claudia A M Gandini Wheeler-Kingshott, Sebastien Ourselin
Axonal loss in the spinal cord is one of the main contributing factors to irreversible clinical disability in multiple sclerosis (MS). In vivo axonal loss can be assessed indirectly by estimating a reduction in the cervical cross-sectional area (CSA) of the spinal cord over time, which is indicative of spinal cord atrophy, and such a measure may be obtained by means of image segmentation using magnetic resonance imaging (MRI). In this work, we propose a new fully automated spinal cord segmentation technique that incorporates two different multi-atlas segmentation propagation and fusion techniques: The Optimized PatchMatch Label fusion (OPAL) algorithm for localising and approximately segmenting the spinal cord, and the Similarity and Truth Estimation for Propagated Segmentations (STEPS) algorithm for segmenting white and grey matter simultaneously...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27779344/dexmedetomidine-use-in-patients-undergoing-electrophysiological-study-for-supraventricular-tachyarrhythmias
#17
Christopher F Tirotta, Tuan Nguyen, Steven Fishberger, Evelio Velis, Melissa Olen, Lourdes Lam, Danielle R Madril, Jessica Hughes, Richard G Lagueruela
BACKGROUND: Dexmedetomidine is a selective alpha-2 adrenergic agonist with sedative, analgesic, and anxiolytic properties. Dexmedetomidine has not been approved for use in pediatrics. Dexmedetomidine has been reported to depress sinus node and atrioventricular nodal function in pediatric patients; it has been suggested that the use of dexmedetomidine may not be desirable during electrophysiological studies. AIM: We hypothesize that the use of dexmedetomidine does not inhibit the induction of supraventricular tachyarrhythmias (SVT) during electrophysiological studies and does not inhibit the ablation of such arrhythmias...
October 25, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27775812/corticosteroids-for-guillain-barr%C3%A3-syndrome
#18
REVIEW
Richard Ac Hughes, Ruth Brassington, Angela A Gunn, Pieter A van Doorn
BACKGROUND: Guillain-Barré syndrome (GBS) is an acute paralysing disease caused by inflammation of the peripheral nerves, which corticosteroids would be expected to benefit. OBJECTIVES: To examine the ability of corticosteroids to hasten recovery and reduce the long-term morbidity from GBS. SEARCH METHODS: On 12 January 2016, we searched the Cochrane Neuromuscular Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase...
October 24, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27774297/driving-forces-behind-the-evolution-of-the-aleutian-mink-disease-parvovirus-in-the-context-of-intensive-farming
#19
Marta Canuti, Kimberly E O'Leary, Bruce D Hunter, Grant Spearman, Davor Ojkic, Hugh G Whitney, Andrew S Lang
Aleutian mink disease virus (AMDV) causes plasmacytosis, an immune complex-associated syndrome that affects wild and farmed mink. The virus can also infect other small mammals (e.g., ferrets, skunks, ermines, and raccoons), but the disease in these hosts has been studied less. In 2007, a mink plasmacytosis outbreak began on the Island of Newfoundland, and the virus has been endemic in farms since then. In this study, we evaluated the molecular epidemiology of AMDV in farmed and wild animals of Newfoundland since before the beginning of the outbreak and investigated the epidemic in a global context by studying AMDV worldwide, thereby examining its diffusion and phylogeography...
January 2016: Virus Evolution
https://www.readbyqxmd.com/read/27773181/insulin-autoimmune-syndrome-in-a-child-with-type-1-diabetes-clinical-immunological-and-biochemical-correlations
#20
Erin Sharwood, Rehna Gous, John Cardinal, Ian Hughes, Tony Huynh
No abstract text is available yet for this article.
February 2016: Pathology
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