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https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#1
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
#2
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
#3
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
#4
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.
February 17, 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
#5
Grieve Sharon, Perez Roberto Sgm, Birklein Frank, Brunner Florian, Bruehl Stephen, Harden R Norman, Packham Tara, Gobeil Francois, Haigh Richard, Holly Janet, Terkelsen Astrid, Davies Lindsay, Lewis Jennifer, Thomassen Ilona, Connett Robyn, Worth Tina, Vatine Jean-Jacques, McCabe Candida S
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 populationsThe development of a core measurement set was informed through workshops and supplementary work, using an iterative consensus process...
February 4, 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
#6
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...
February 3, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28159733/identifying-functional-defects-in-patients-with-immune-dysregulation-due-to-lrba-and-ctla-4-mutations
#7
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 (CVID) with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T cell 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...
February 3, 2017: Blood
https://www.readbyqxmd.com/read/28110952/outbreak-of-subacute-onset-toxic-anterior-segment-syndrome-associated-with-single-piece-acrylic-intraocular-lenses
#8
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...
January 19, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28098628/the-abcdef-bundle-science-and-philosophy-of-how-icu-liberation-serves-patients-and-families
#9
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
https://www.readbyqxmd.com/read/27871032/level-of-serum-thioredoxin-and-correlation-with-neurocognitive-functions-in-patients-with-schizophrenia-using-clozapine-and-other-atypical-antipsychotics
#10
Alper Bas, Gozde Gultekin, Said Incir, Tuba Ocek Bas, Murat Emul, Alaatin Duran
Thioredoxin is a serum antioxidant that has been investigated in the etiology of schizophrenia. The aim of this study is investigating the relationship between serum thioredoxin levels and cognitive functions in acute psychotic episode and remission state patients with schizophrenia; and examining whether there were differences between patients using clozapine and other atypical antipsychotics; including risperidone, olanzapine and amisulpride. This research was performed in schizophrenia patients hospitalized with acute psychotic episode (n=57), reevaluated patients after the initiation of treatment (mean 16 weeks) (n=46), and healthy controls (n=41)...
January 2017: Psychiatry Research
https://www.readbyqxmd.com/read/27792104/neurocutaneous-melanosis-presenting-as-cavernous-hemangioma-persistent-abdominal-pain
#11
Keman Liao, Shuanglin Que, Yongming Qiu, Shilei Zhang, Zhihua Chen
Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the presence of multiple congenital melanocytic nevi and the proliferation of melanocytes in the central nervous system. The authors present a 9-year-old Chinese boy whose clinical manifestations are intermittent headache for 2 months and persistent abdominal pain for 10 days. 3D-reconstruction computed tomography angiography image, digital subtraction angiography, and magnetic resonance imaging plus angiography (MRI+MRA) examinations results suggested that cavernoma at left frontal lobe potentially associated with hemorrhage...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27783092/development-of-monofixation-syndrome-after-extraction-of-dense-cataracts
#12
RANDOMIZED CONTROLLED TRIAL
H Sprague Eustis, Adam Janot, Chirag Jhaveri
PURPOSE: If the interruption of macular fusion for an extended period of time is the key event that results in the development of monofixation syndrome, then the decreased macular input caused by dense cataracts may cause monofixation syndrome in adults. This study was designed to test this hypothesis. METHODS: The study design was a retrospective chart review that identified patients with unilateral cataracts at two southern Louisiana medical centers. Patients were assigned to the dense cataract group if a unilateral cataract had been present for at least 3 months and led to a visual acuity of worse than 20/200...
January 1, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27748521/severe-epstein-barr-virus-infection-in-primary-immunodeficiency-and-the-normal-host
#13
REVIEW
Austen J J Worth, Charlotte J Houldcroft, Claire Booth
Epstein-Barr virus (EBV) infection is ubiquitous in humans, but the majority of infections have an asymptomatic or self-limiting clinical course. Rarely, individuals may develop a pathological EBV infection with a variety of life threatening complications (including haemophagocytosis and malignancy) and others develop asymptomatic chronic EBV viraemia. Although an impaired ability to control EBV infection has long been recognised as a hallmark of severe T-cell immunodeficiency, the advent of next generation sequencing has identified a series of Primary Immunodeficiencies in which EBV-related pathology is the dominant feature...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27701140/leaves-of-cordia-boissieri-a-dc-as-a-potential-source-of-bioactive-secondary-metabolites-for-protection-against-metabolic-syndrome-induced-in-rats
#14
Asmaa I Owis, Amira M Abo-Youssef, Ahmed H Osman
Cordia boissieri A. DC. (Boraginaceae) is traditionally used as an herbal remedy for diabetes by Hispanic women in Southwestern USA. A recent investigation showed the significant protective effect of ethyl acetate extract against metabolic syndrome (MS). However, the corresponding active principles responsible for this effect and relations between their structure and biological actions remain unclear. Thus, ethyl acetate extract was subjected to column chromatography, which yielded seven compounds identified on the basis of spectroscopic data as rutin, hesperidin, kaempferol-3-O-β-d-glucopyranoside, rosmarinic acid, β-sitosterol-3-O-β-d-glucopyranoside, quercetin, and kaempferol...
March 1, 2017: Zeitschrift Für Naturforschung. C, A Journal of Biosciences
https://www.readbyqxmd.com/read/27638975/psychiatric-disorders-and-psychological-distress-in-patients-undergoing-evaluation-for-lung-transplantation-a-national-cohort-study
#15
Torunn S Søyseth, May-Brit Lund, Øystein Bjørtuft, Aasta Heldal, Vidar Søyseth, Mary Amanda Dew, Gro Killi Haugstad, Ulrik Fredrik Malt
OBJECTIVE: We sought to investigate type and prevalence of psychiatric disorders and psychological distress in patients being evaluated for lung transplantation. METHODS: One hundred eighteen patients were assessed [74% with chronic obstructive pulmonary disease (COPD)] with the MINI Neuropsychiatric Interview, the General Health Questionnaire (GHQ), and Hospital Anxiety Depression Scale (HADS). Spirometry and the 6-min walk test (6MWT) assessed lung function with data subject to multivariate regression analyses...
September 2016: General Hospital Psychiatry
https://www.readbyqxmd.com/read/27619478/bioresorbable-vascular-scaffolds-what-does-the-future-bring
#16
COMMENT
Jacek Bil, Robert J Gil
Bioresorbable vascular scaffolds (BVS) have emerged as an interesting alternative since the presence of the prosthesis in the coronary artery is transient. This technology enables to restore the normal vasomotor tone and allows positive remodeling, simultaneously reducing the trigger for persistent inflammation and facilitating further interventions by percutaneous or surgical means. Absorb BVS(®) is the first generation everolimus-eluting poly-L-lactide (PLLA) bioresorbable scaffold. In recent meta-analyses Absorb BVS(®) was definitely proved to be safe and effective device in the treatment of symptomatic coronary artery disease...
August 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27593844/are-herniated-cerebellar-tonsils-the-main-culprit-of-chiari-malformation-type-i-symptoms-brainstem-compression-hypothesis-seems-to-be-re-elucidated-and-revised
#17
Mehmet Selcuki, Mesut Mete, Deniz Selcuki
AIM: The Chiari Malformation I (CM I) and tethered cord syndrome (TCS) are both congenital abnormalities whose mechanism are still not fully understood. Associaton of CM I and TCS have been reported only for a few times previously Material and Methods: This retrospective study includes 7 patients who were diagnosed with CM I and TCS managed by cutting of the filum terminale. RESULTS: The mean follow-up period was 21 months and 28 days. Although all patients were undergone untethering surgical procedure by cutting the filum terminale only, all patients reported significant early postsurgical resolution of CM I symptoms and symptoms related to TCS as well...
July 1, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27568394/ct-of-suspected-thoracic-acute-aortic-injury-in-the-emergency-department-is-routine-abdominopelvic-imaging-worth-the-additional-collective-radiation-dose
#18
Shawn Haji-Momenian, Jonathan Rischall, Neil Okey, Myles Taffel, Nadia Khati, Robert Zeman
This study aimed to determine the incidence of non-traumatic acute aortic injury (AAI) extending from the chest into the abdomen or pelvis in emergency department (ED) patients with acute aortic syndrome (AAS), to estimate the effective dose of the abdominopelvic portion of these CT exams, and to compare the number needed to screen (NNS) with the collective population radiation dose of imaging those stations. All patients (n = 238) presenting to the ED with AAS between March 2014 and June 2015 who were imaged per CT AAI protocol (noncontrast and contrast-enhanced CT angiography of the chest, abdomen, and pelvis) were retrospectively identified in this IRB-approved HIPAA-compliant study...
August 27, 2016: Emergency Radiology
https://www.readbyqxmd.com/read/27529667/burnout-and-depression-label-related-stigma-help-seeking-and-syndrome-overlap
#19
Renzo Bianchi, Jay Verkuilen, Romain Brisson, Irvin Sam Schonfeld, Eric Laurent
We investigated whether burnout and depression differed in terms of public stigma and help-seeking attitudes and behaviors. Secondarily, we examined the overlap of burnout and depressive symptoms. A total of 1046 French schoolteachers responded to an Internet survey in November-December 2015. The survey included measures of public stigma, help-seeking attitudes and behaviors, burnout and depressive symptoms, self-rated health, neuroticism, extraversion, history of anxiety or depressive disorder, social desirability, and socio-demographic variables...
November 30, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27521664/acute-acquired-concomitant-esotropia-and-decompensated-monofixation-syndrome-a-sensory-motor-status-assessment
#20
COMPARATIVE STUDY
Gustavo Savino, Edoardo Abed, Maria Teresa Rebecchi, Maria Spreca, Costanza Tredici, Anna Dickmann
OBJECTIVE: To assess and compare sensory-motor status and clinical features of type I and type II acute acquired concomitant esotropia (group A) and decompensated monofixation syndrome (group B). METHODS: In a retrospective, comparative study, 26 patients with a confirmed postoperative diagnosis of type I and II acute acquired concomitant esotropia and monofixation syndrome were enrolled. The 2-tailed unpaired t test and 2-tailed χ(2) test were performed to compare angle of deviation and sensory-motor status under the environmental conditions and after prismatic adaptation test and progressive prism test of 2 groups...
August 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
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