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https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#1
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28499891/sapho-autophagy-il-1-foxo1-and-propionibacterium-cutibacterium-acnes
#2
Jean-Marie Berthelot, Stéphane Corvec, Gilles Hayem
Overt infection by Propionibacterium acnes is lacking in many SAPHO syndromes, and antibiotics have only a transient and incomplete effect, either in SAPHO syndrome or acne. As several auto-inflammatory bone disorders sharing over-production of IL-1β can mimic SAPHO, this syndrome could partly depend on genetically encoded overproduction of IL-1β. However, cyclic intracellular infections, mostly by P. acnes, can contribute to the enhanced IL-1β release by some skin cells, and probably by bone cells. P. acnes is indeed a powerful trigger of NLRP3-inflammasome activation and IL-1β, leading to osteitis and enhanced mesenchymal cells differentiation in osteoblasts...
May 9, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28488108/-ventricular-tachyarrhythmia-as-a-side-effect-of-pharmacotherapy
#3
REVIEW
Thomas Demming, Hendrik Bonnemeier
Ventricular tachyarrhythmia is a severe and life-threatening potential side effect of pharmacotherapy. Substances with proarrhythmic potential belong to various groups of medication. Apart from antiarrhythmic agents, especially antibiotics and psychiatric drugs are worth mentioning owing to their broad application. Interaction with cardiac potassium channels is the most important reason for drug-induced ventricular tachyarrhythmia. Over 20 years of research in animal models and clinical studies have uncovered the underlying mechanisms...
May 9, 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/28463632/reduced-intensity-for-myelodysplastic-syndrome-worth-the-gamble
#4
Michael A Pulsipher
No abstract text is available yet for this article.
May 2, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28449649/a-case-of-recurrent-depressive-disorder-presenting-with-alice-in-wonderland-syndrome-psychopathology-and-pre-and-post-treatment-fdg-pet-findings
#5
Tatsushi Yokoyama, Tsuyoshi Okamura, Miwako Takahashi, Toshimitsu Momose, Shinsuke Kondo
BACKGROUND: Alice in Wonderland syndrome (AIWS) is a rare neuropsychiatric syndrome that typically manifests in distortion of extrapersonal visual image, altered perception of one's body image, and a disturbed sense of the passage of distance and time. Several conditions have been reported to contribute to AIWS, although its biological basis is still unknown. Here, we present the first case demonstrating a clear concurrence of recurrent depressive disorder and AIWS. The clinical manifestations and pre- and post-treatment fluorodeoxyglucose positron-emission tomographic (FDG-PET) images provide insights into the psychopathological and biological basis of AIWS...
April 27, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28413098/therapeutic-inhibition-of-complement-well-worth-the-risk
#6
Scott R Barnum
Complement is an integral part of the immune system and protects against infection. Complement-mediated immunopathology in many autoimmune diseases and syndromes has led to the therapeutic targeting of complement and to questions around the safety of complement inhibition. Here; I examine and clarify the risks associated with complement therapeutics.
April 13, 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/28400115/thymus-transplantation-for-complete-digeorge-syndrome-european-experience
#7
E Graham Davies, Melissa Cheung, Kimberly Gilmour, Jesmeen Maimaris, Joe Curry, Anna Furmanski, Neil Sebire, Neil Halliday, Konstantinos Mengrelis, Stuart Adams, Jolanta Bernatoniene, Ronald Bremner, Michael Browning, Blythe Devlin, Hans Christian Erichsen, H Bobby Gaspar, Lizzie Hutchison, Winnie Ip, Marianne Ifversen, T Ronan Leahy, Elizabeth McCarthy, Despina Moshous, Kim Neuling, Malgorzata Pac, Alina Papadopol, Kathryn L Parsley, Luigi Poliani, Ida Ricciardelli, David M Sansom, Tiia Voor, Austen Worth, Tessa Crompton, M Louise Markert, Adrian J Thrasher
BACKGROUND: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). METHODS: Twelve patients with cDGS were transplanted with allogeneic cultured thymus. OBJECTIVE: To confirm and extend the results previously obtained in a single centre. RESULTS: Two patients died of pre-existing viral infections without developing thymopoeisis and one late death occurred from autoimmune thrombocytopaenia...
April 8, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28378511/dissociation-of-reward-and-effort-sensitivity-in-methcathinone-induced-parkinsonism
#8
Trevor T-J Chong, Valerie Bonnelle, Kai-Riin Veromann, Julius Juurmaa, Pille Taba, Olivia Plant, Masud Husain
Methcathinone-induced Parkinsonism is a recently described extrapyramidal syndrome characterized by globus pallidus and substantia nigra lesions, which provides a unique model of basal ganglia dysfunction. We assessed motivated behaviour in this condition using a novel cost-benefit decision-making task, in which participants decided whether it was worth investing effort for reward. Patients showed a dissociation between reward and effort sensitivity, such that pallidonigral complex dysfunction caused them to become less sensitive to rewards, while normal sensitivity to effort costs was maintained...
April 5, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28359285/atypical-periodic-alternating-nystagmus-responding-to-high-dose-intravenous-immunoglobulins-a-case-report
#9
Herminia Argente-Escrig, Luis Bataller, Claudio Krstulovic Roa, Vanesa Pérez Guillén, Herminio Perez Garrigues, Bonaventura Casanova Estruch
BACKGROUND: Acquired periodic alternating nystagmus (PAN) is a rare but well-defined syndrome that consists of a horizontal nystagmus that cyclically reverses its direction. PAN can be caused by degenerative, neoplastic, or toxic diseases of the cerebellum and, in a few cases, by subacute cerebellar ataxia of immune origin. CASE PRESENTATION: A 44-year-old man came to our attention because of rapidly progressive gait instability and blurred vision. Clinical examination showed PAN and a mild pancerebellar syndrome...
March 31, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28355744/-clinical-effect-of-minimally-invasive-surgical-transforaminal-lumbar-interbody-fusion-technique-associated-with-percutaneous-pedicle-screws-in-micro-endoscopy-discectomy
#10
J H Dai, H B Lin, X Li, Y Y Wu, H Z Zhang, Z X Yu
Objective: To evaluate the clinical efficacy between the minimally-Invasive surgical (MIS)-transforaminal lumbar interbody fusion (TLIF) technique associated with percutaneous pedicle screws in micro endoscopy discectomyand MIS-TLIF technique associated with both sides of the lower lumbar spine Wiltse approach in Quadrant channel with treatment of single segment herniation associated with lumbar instability syndrome. Methods: From January 2012 to January 2015, 75 cases that meet the inclusion and exclusion criteria were treated by retrospective study method, which were divided into two groups in Department of Orthopedics, the Affiliated Hospital of Putian University...
March 21, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28349350/visual-snow-a-potential-cortical-hyperexcitability-syndrome
#11
REVIEW
Alaa Bou Ghannam, Victoria S Pelak
The purpose of this review is to provide an overview of visual snow (VS) and provide information regarding current treatment options for VS. Visual snow (VS) is a rare disorder manifesting with a persistent visual phenomenon of seeing numerous tiny snow-like dots throughout the visual field, and it can cause debilitating visual and psychological consequences. It is emerging as a disorder separate from, but associated with, migraine visual aura, and neuronal cortical hyperexcitability is being considered as a theoretical mechanism for the persistent-positive visual symptoms...
March 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#12
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28278704/incidence-etiology-and-timing-of-infections-following-azacitidine-therapy-for-myelodysplastic-syndromes
#13
Jason A Trubiano, Michael Dickinson, Karin A Thursky, Timothy Spelman, John F Seymour, Monica A Slavin, Leon J Worth
We examine the infective complications occurring during azacitidine (AZA) therapy in patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). A retrospective review of patients receiving ≥1 cycle of AZA for MDS or AML was performed. Patient demographics, infection prophylaxis/episodes and outcomes were evaluated. Sixty eight patients received 884 AZA cycles. Bacterial infections occurred in 25% of cycle-1 and 27% of cycle-2 AZA therapy. Febrile neutropenia complicated 5.3% of AZA cycles, bacteremia 2% and invasive Aspergillosis 0...
February 28, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28273200/metabolic-syndrome-in-children-and-teenagers-worth-assessing-it-but-how
#14
EDITORIAL
Gilberto J Paz-Filho
No abstract text is available yet for this article.
January 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28221265/acute-liver-failure-during-deferasirox-chelation-a-toxicity-worth-considering
#15
Nathan Menaker, Katharine Halligan, Natasha Shur, John Paige, Matthew Hickling, Anne Nepo, Lauren Weintraub
This case report details a unique case of acute, reversible liver failure in a 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation of hepatic toxicity and few reports of hepatic failure. The case highlights the importance of close monitoring of ferritin, bilirubin, and transaminases for patients on deferasirox.
April 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28178071/recommendations-for-a-first-core-outcome-measurement-set-for-complex-regional-pain-syndrome-clinical-studies-compact
#16
Sharon Grieve, Roberto S G M Perez, Frank Birklein, Florian Brunner, Stephen Bruehl, R Norman Harden, Tara Packham, Francois Gobeil, Richard Haigh, Janet Holly, Astrid Terkelsen, Lindsay Davies, Jennifer Lewis, Ilona Thomassen, Robyn Connett, Tina Worth, Jean-Jacques Vatine, Candida S McCabe
Complex regional pain syndrome (CRPS) is a persistent pain condition that remains incompletely understood and challenging to treat. Historically, a wide range of different outcome measures have been used to capture the multidimensional nature of CRPS. This has been a significant limiting factor in the advancement of our understanding of the mechanisms and management of CRPS. In 2013, an international consortium of patients, clinicians, researchers, and industry representatives was established, to develop and agree on a minimum core set of standardised outcome measures for use in future CRPS clinical research, including but not limited to clinical trials within adult populations...
June 2017: Pain
https://www.readbyqxmd.com/read/28160352/outcomes-of-children-adolescents-and-young-adults-following-allogeneic-stem-cell-transplantation-for-secondary-acute-myeloid-leukemia-and-myelodysplastic-syndromes-the-md-anderson-cancer-center-experience
#17
Ossama M Maher, Jorge Galvez Silva, Jimin Wu, Diane Liu, Laurence J N Cooper, Nidale Tarek, Laura Worth, Dean A Lee, Demetrios Petropoulos, Anna R K Franklin, Patrick Zweidler-Mckay, Robert J Wells, Gabriela Rondon, Richard E Champlin, Priti Tewari
We conducted a retrospective analysis of outcomes for children and young adults with sAML/sMDS who underwent HSCT at our institution. Thirty-two patients (median age 20 years) with sAML (n=24) and sMDS (n=8) received HSCT between 1990 and 2013. The median time from sAML/sMDS diagnosis to HSCT was 4.1 months (range: 1.2-27.2 months). The transplant regimens were primarily busulfan based (n=19). BM was the primary donor source (n=15). Eleven recipients were transplanted with residual disease. At a median follow-up of 62...
May 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28159733/identifying-functional-defects-in-patients-with-immune-dysregulation-due-to-lrba-and-ctla-4-mutations
#18
Tie Zheng Hou, Nisha Verma, Jennifer Wanders, Alan Kennedy, Blagoje Soskic, Daniel Janman, Neil Halliday, Behzad Rowshanravan, Austen Worth, Waseem Qasim, Helen Baxendale, Hans Stauss, Suranjith Seneviratne, Olaf Neth, Peter Olbrich, Sophie Hambleton, Peter D Arkwright, Siobhan O Burns, Lucy S K Walker, David M Sansom
Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T-cell (Treg) function associated with impaired ability to control levels of the CTLA-4 ligands, CD80 and CD86. However, additional mutations affecting the CTLA-4 pathway, such as those recently reported for LRBA, indirectly affect CTLA-4 expression, resulting in clinically similar disorders. Robust phenotyping approaches sensitive to defects in the CTLA-4 pathway are therefore required to inform understanding of such immune dysregulation syndromes...
March 16, 2017: Blood
https://www.readbyqxmd.com/read/28110952/outbreak-of-subacute-onset-toxic-anterior-segment-syndrome-associated-with-single-piece-acrylic-intraocular-lenses
#19
Tetsuro Oshika, Shuichiro Eguchi, Hiroshi Goto, Yuichi Ohashi
PURPOSE: To report the results of a clinical investigation after an outbreak of subacute-onset toxic anterior segment syndrome (TASS) after implantation of single-piece acrylic intraocular lenses (IOLs), which then were recalled voluntarily from the market. DESIGN: Retrospective, multicenter, observational case series. PARTICIPANTS: Cases reported to the manufacturer from January 2015 through March 2016 of unusual ocular inflammation after cataract surgery using AcrySof ReSTOR, ReSTOR toric, or AcrySof IQ toric SN6AT6-9 IOLs (Alcon Laboratories, Inc...
April 2017: Ophthalmology
https://www.readbyqxmd.com/read/28098628/the-abcdef-bundle-science-and-philosophy-of-how-icu-liberation-serves-patients-and-families
#20
E Wesley Ely
Over the past 20 years, critical care has matured in a myriad of ways resulting in dramatically higher survival rates for our sickest patients. For millions of new survivors comes de novo suffering and disability called "the postintensive care syndrome." Patients with postintensive care syndrome are robbed of their normal cognitive, emotional, and physical capacity and cannot resume their previous life. The ICU Liberation Collaborative is a real-world quality improvement initiative being implemented across 76 ICUs designed to engage strategically the ABCDEF bundle through team- and evidence-based care...
February 2017: Critical Care Medicine
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