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https://www.readbyqxmd.com/read/28738222/thinking-inside-the-box-spatial-frames-of-reference-for-drawing-in-williams-syndrome-and-typical-development
#1
Kerry D Hudson, Emily K Farran
BACKGROUND: Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias. AIMS: Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability)...
July 21, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28737507/leukotrienes-and-sex-strange-bedfellows
#2
Lewis J Smith
Leukotrienes are proinflammatory lipid mediators that have been shown to be upregulated in several diseases, including asthma, aspirin-exacerbated respiratory disease (AERD), inflammatory bowel disease, and acute respiratory distress syndrome. Leukotrienes have been explored as therapeutic targets for these diseases and others; however, leukotriene inhibitors have had limited success in the clinic. There are noted differences in the incidence of leukotriene-mediated diseases in males and females, but sex as a factor in the response to leukotriene inhibitors has not been fully explored...
July 24, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28737365/vim-thalamotomy-in-the-treatment-of-holmes-tremor-secondary-to-hiv-associated-midbrain-lesion-a-case-report
#3
José O Oliveira, Soraya A Jorge Cecilio, Matheus Fernandes Oliveira, Leonardo R Takahashi, Alexandro R Galassi, Vanessa M Holanda, José M Rotta
Holmes' tremor (rubral tremor, cerebellar outflow tremor) is characterized by rest, intention and postural tremor, often localized to one upper extremity, associated with ipsilateral dysmetria and dysdiadochokinesia. We describe a case of successful treatment of Holmes' tremor with unilateral nucleus ventralis intermedius (VIM) thalamotomy. The subject is a 43-year-old woman with unremarkable previous medical history. She presented with complete left hemiparesis in the context of human immunodeficiency syndrome and the magnetic resonance image disclosed a contrast-enhancing lesion in right brain peduncle, in topography of red nucleus...
October 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28736162/-skin-engineering-for-severe-burns
#4
J-J Lataillade, B Magne, E Bey, T Leclerc, M Trouillas
Severe burned patients need definitive and efficient wound coverage. Outcome of massive burns has been improved by using cultured epithelial autografts (CEA). Despite fragility, percentages of success take, cost of treatment and long-term tendency to contracture, this surgical technique has been developed in few burn centres. First improvements were to combine CEA and dermis-like substitute. Cultured skin substitutes provide earlier skin closure and satisfying functional result. These methods have been used successfully in massive burns...
July 20, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28735935/catheter-directed-thrombolysis-in-a-child-with-bilateral-renal-artery-graft-thrombosis
#5
Raphael Yoo, Ahmad I Alomari, Raja Shaikh, Scott L Davis, Michael A Ferguson, Kashayar Vakili, Heung-Bae Kim, Gulraiz Chaudry
A 5-year-old boy with midaortic syndrome who had undergone aortic bypass and bilateral renal artery grafts presented to the emergency department 1 year after surgery with symptoms of nausea, vomiting, and abdominal pain. Because of delay in diagnosis of bilateral renal artery thrombosis, his condition progressed to anuric renal failure. He underwent catheter-directed thrombolysis 7 days after presentation with administration of tissue plasminogen activator and heparin infusion over a 24-hour period. There was successful resolution of thrombus and complete recovery of renal function to baseline...
August 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28735817/osteosarcoma-molecular-pathogenesis-and-ipsc-modeling
#6
REVIEW
Yu-Hsuan Lin, Brittany E Jewell, Julian Gingold, Linchao Lu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee
Rare hereditary disorders provide unequivocal evidence of the importance of genes in human disease pathogenesis. Familial syndromes that predispose to osteosarcomagenesis are invaluable in understanding the underlying genetics of this malignancy. Recently, patient-derived induced pluripotent stem cells (iPSCs) have been successfully utilized to model Li-Fraumeni syndrome (LFS)-associated bone malignancy, demonstrating that iPSCs can serve as an in vitro disease model to elucidate osteosarcoma etiology. We provide here an overview of osteosarcoma predisposition syndromes and review recently established iPSC disease models for these familial syndromes...
July 20, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28735684/micro-denervation-of-the-spermatic-cord-for-post-vasectomy-pain-management
#7
REVIEW
Wei Phin Tan, Laurence A Levine
INTRODUCTION: Post-vasectomy pain syndrome (PVPS) is a challenging problem for the practicing urologist because of its unclear pathophysiology and no clearly established protocol for evaluation or treatment. PVPS is defined as at least 3 months of chronic or intermittent scrotal content pain after a vasectomy procedure once other etiologies for the pain have been ruled out. AIM: To systematically review the current literature on the effectiveness of micro-denervation of the spermatic cord (MDSC) for PVPS...
July 20, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28735156/adaptive-periodic-paralysis-allows-weaning-deep-sedation-overcoming-the-drowning-syndrome-in-ecmo-patients-bridged-for-lung-transplantation-a-case-series
#8
Irina Timofte, Michael Terrin, Erik Barr, June Kim, Joseph Rinaldi, Nicholas Ladikos, Jay Menaker, Ali Tabatabai, Zachary Kon, Bartley Griffith, Richard Pierson, Si Pham, Aldo Iacono, Daniel Herr
PURPOSE: Sedation in extracorporeal membrane oxygenation (ECMO) is challenging. Patients require deep sedation because of extremely high respiratory rates and increased work of breathing ("Drowning Syndrome") resulting in altered intra-thoracic pressure and reduced pump flow associated with hemodynamic compromise and decreased oxygenation. However, deep sedation impedes essential active rehabilitation with physical therapy. METHODS: We reviewed data on 3 ECMO patients for whom we used a novel approach to replace continuous drips with periodic sedation/paralysis...
July 17, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28733961/a-review-of-biomarkers-for-neurodegenerative-disease-will-they-swing-us-across-the-valley
#9
REVIEW
Thomas G Beach
Measures of the severity of cognitive impairment or parkinsonism are the usual endpoints in clinical trials for Alzheimer's disease (AD) and Parkinson's disease (PD), but are critically hampered by their lack of disease sensitivity and specificity. Due to the high failure rate of clinical trials, the rate of regulatory approval for efficacious new drugs has stagnated in the past few decades, with the gap between basic science discovery and clinical application metaphorically termed the "Valley of Death". While the causes for this are probably multiple and complex, the usage of biomarkers as surrogate endpoints, particularly when they are molecularly-specific for the disease, has achieved some success in cancer trials, and it is likely that neurodegenerative disease trials would benefit from the same approach...
July 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28733840/identification-of-a%C3%A2-rare-coch-mutation-by-whole-exome-sequencing-implications-for-personalized-therapeutic-rehabilitation-in-an-austrian-family-with-non-syndromic-autosomal-dominant-late-onset-hearing-loss
#10
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Wolfgang Gstoettner, Klemens Frei, Trevor Lucas
BACKGROUND: Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling, disease prognosis and understanding of the molecular mechanisms of disease. To date, 36 causative genes have been identified, many in only individual families. Gene selection for genetic screening by traditional methods and genetic diagnosis in autosomal dominant patients has therefore been fraught with difficulty. Whole-exome sequencing provides a powerful tool to analyze all protein-coding genomic regions in parallel, thus allowing the comprehensive screening of all known genes and associated alterations...
July 21, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28733159/the-impact-of-a-bladder-training-video-versus-standard-urotherapy-on-quality-of-life-of-children-with-bladder-and-bowel-dysfunction-a-randomized-controlled-trial
#11
N Brownrigg, L H Braga, M Rickard, F Farrokhyar, B Easterbrook, A Dekirmendjian, K Jegatheeswaran, J DeMaria, A J Lorenzo
INTRODUCTION: Bladder and bowel dysfunction (BBD) can negatively impact the quality of life (QoL) of children. Urotherapy is an accepted treatment option for BBD; however, literature that examines the impact of management options on QoL in this population is scarce. OBJECTIVE: To determine whether a bladder training video (BTV) is non-inferior to standard urotherapy (SU) in improving QoL in children with BBD. METHODS: Children aged 5-10 years and who scored ≥11 on the Vancouver Non-Neurogenic Lower Urinary Tract Dysfunction/Dysfunctional Elimination Syndrome Questionnaire (NLUTD/DES) were recruited from a pediatric tertiary care center...
July 4, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28731380/first-experience-of-performing-hybrid-operations-in-chronic-venous-obstructions-of-iliofemoral-segments-in-patients-with-postthrombotic-syndrome
#12
Anatoly Pokrovsky, Igor Ignatyev, Evgeny Gradusov
OBJECTIVE: To assess the first results of hybrid operations in chronic venous obstructions of iliofemoral segments in patients with postthrombotic syndrome (PTS). METHODS: Hybrid operations (open endovenectomy from the common femoral vein with arteriovenous fistula creation and iliac vein stenting) were performed in 12 patients diagnosed with PTS. All of the patients were diagnosed with severe chronic venous insufficiency. The degree of manifestations of PTS was assessed by means of the Villalta score 7 months before and after the surgical intervention...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28730896/cannabinoid-hyperemesis-syndrome-potential-mechanisms-for-the-benefit-of-capsaicin-and-hot-water-hydrotherapy-in-treatment
#13
John R Richards, Jeff M Lapoint, Guillermo Burillo-Putze
INTRODUCTION: Cannabinoid hyperemesis syndrome is a clinical disorder that has become more prevalent with increasing use of cannabis and synthetic cannabinoids, and which is difficult to treat. Standard antiemetics commonly fail to alleviate the severe nausea and vomiting characteristic of the syndrome. Curiously, cannabinoid hyperemesis syndrome patients often report dramatic relief of symptoms with hot showers and baths, and topical capsaicin. OBJECTIVES: In this review, we detail the pharmacokinetics and pharmacodynamics of capsaicin and explore possible mechanisms for its beneficial effect, including activation of transient receptor potential vanilloid 1 and neurohumoral regulation...
July 21, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28730667/role-of-plasma-exchange-leukocytapheresis-and-plasma-diafiltration-in-management-of-refractory-macrophage-activation-syndrome
#14
Noriko Kinjo, Kazuya Hamada, Chika Hirayama, Masaki Shimizu
Macrophage activation syndrome (MAS) is a life-threating complication of systemic juvenile idiopathic arthritis (s-JIA). Steroid and cyclosporine (CsA) are effective for MAS, but, treatment for steroid- and CsA-resistant patients is still challenging. We report the case of steroid and CsA resistant s-JIA associated MAS misdiagnosed as Kawasaki disease (KD), who was successfully treated with the combination of plasma exchange (PE) and leukocytapheresis (LCAP) followed by plasma diafiltration (PDF). PE + LCAP effectively removed proinflammatory cytokines and reduced the number of peripheral white blood cells...
July 21, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28730318/renal-function-in-neonates-with-twin-twin-transfusion-syndrome-treated-with-or-without-fetoscopic-laser-surgery
#15
Lianne Verbeek, Faiez A Joemmanbaks, Jacoba M E Quak, Ram N Sukhai, Johanna M Middeldorp, Dick Oepkes, Enrico Lopriore
The aim of this study is to investigate the short-term renal function in neonates with twin-twin transfusion syndrome (TTTS), treated with fetoscopic laser surgery (laser group) or conservatively (non-laser group). Creatinine and urea levels and urine output were recorded in the first week after birth. Primary outcome was short-term renal dysfunction, defined as a creatinine level of >100 μmol/L during the first week postpartum. We evaluated 312 twins (laser group, n = 274; non-laser group, n = 38)...
July 20, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28729970/severe-cyclophosphamide-related-hyponatremia-in-a-patient-with-acute-glomerulonephritis
#16
Pasquale Esposito, Maria Valentina Domenech, Nicoletta Serpieri, Marta Calatroni, Ilaria Massa, Alessandro Avella, Edoardo La Porta, Luca Estienne, Elena Caramella, Teresa Rampino
Cyclophosphamide is frequently used to treat cancer, autoimmune and renal diseases, such as rapidly progressive glomerulonephritis. Its side effects are well-known, including bone marrow depression, infections, alopecia, sterility, bladder malignancy and hemorrhagic cystitis. Moreover, in some cases cyclophosphamide use has been related to the onset of hyponatremia, by development of a syndrome of inappropriate antidiuresis. Indeed, severe hyponatremia has been previously reported in patients treated with high-dose or moderate-dose of intravenous cyclophosphamide, while only few cases have been reported in patients treated with low dose...
July 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28728615/success-of-tonsillectomy-for-obstructive-sleep-apnea-in-children-with-down-syndrome
#17
David G Ingram, Amanda G Ruiz, Dexiang Gao, Norman R Friedman
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and associated with significant morbidity. In the current study we examined polysomnographic outcomes of children with DS who underwent tonsillectomy. METHODS: A retrospective chart review of children with DS who underwent a tonsillectomy between 2009-2015 was performed. All children had either a concurrent adenoidectomy or had previously underwent an adenoidectomy. Children with preoperative and postoperative polysomnograms within 6 months of surgery were included in the analysis...
July 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28728607/zika-virus-transmission-to-mouse-ear-by-mosquito-bite-a-laboratory-model-that-replicates-the-natural-transmission-process
#18
Nagila Francinete Costa Secundino, Barbara Aparecida Chaves, Alessandra Silva Orfano, Karine Renata Dias Silveira, Nilton Barnabe Rodrigues, Thais Bonifácio Campolina, Rafael Nacif-Pimenta, Luiz Eduardo Martinez Villegas, Breno Melo Silva, Marcus Vinícius Guimarães Lacerda, Douglas Eric Norris, Paulo Filemon Paolucci Pimenta
BACKGROUND: Zika disease has transformed into a serious global health problem due to the rapid spread of the arbovirus and alarming severity including congenital complications, microcephaly and Guillain-Barré syndrome. Zika virus (ZIKV) is primarily transmitted to humans through the bite of an infective mosquito, with Aedes aegypti being the main vector. METHODS: We successfully developed a ZIKV experimental transmission model by single infectious Ae. aegypti bite to a laboratory mouse using circulating Brazilian strains of both arbovirus and vector...
July 20, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28727554/a-human-humanoid-interaction-through-the-use-of-bci-for-locked-in-als-patients-using-neuro-biological-feedback-fusion
#19
Rosario Sorbello, Salvatore Tramonte, Marcello Giardina, Vincenzo La Bella, Rossella Spataro, Brendan Allison, Christoph Guger, Antonio Chella
This paper illustrates a new architecture for a human-humanoid interaction based on EEG-Brain Computer Interface (EEG-BCI) for patients affected by locked-in syndrome caused by Amyotrophic Lateral Sclerosis (ALS). The proposed architecture is able to recognise users' mental state accordingly to the biofeedback factor Bf , based on users' Attention, Intention and Focus, that is used to elicit a robot to perform customised behaviours. Experiments have been conducted with a population of 8 subjects: 4 ALS patients in a near Locked-in status with normal ocular movement and 4 healthy control subjects enrolled for age, education and computer expertise...
July 18, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28727542/single-session-high-intensity-focused-ultrasound-treatment-for-persistent-or-relapsed-graves-disease-preliminary-experience-in-a-prospective-study
#20
Brian Hung-Hin Lang, Yu-Cho Woo, Ian Yat-Hin Wong, Keith Wan-Hang Chiu
Purpose To evaluate the safety and efficacy of ultrasonography (US)-guided high-intensity focused ultrasound (HIFU) ablation as a treatment for medically refractory Graves disease (GD). Materials and Methods After ethics approval, a prospective trial (NCT02685514) was performed from November 2015 to February 2016. Thirty patients underwent ablation of the entire right and left thyroid lobes, with areas near the tracheal-esophageal groove and common carotid artery left unablated. Serum thyroid-stimulating hormone (TSH), free T4 (FT4), antithyroid autoantibodies, and TSH receptor (TSHR) antibody levels were evaluated afterward, and US color Doppler, US volumetry, and eye assessment were performed...
July 20, 2017: Radiology
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