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Tsong-Hai Lee, Jen-Tsung Yang, Jiann-Der Lee, Ku-Chou Chang, Tsung-I Peng, Ting-Yu Chang, Kuo-Lun Huang, Chi-Hung Liu, Shan-Jin Ryu, Alessandro P Burlina
BACKGROUND: Fabry disease is a X-linked disease, and enzyme-based screening methods are not suitable for female patients. METHODS: Totally, 1,000 young stroke patients (18-55 y/o, 661 with ischemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. Sequenom iPLEX assay was used to detect 26 Fabry related mutation genes. The frequency of Fabry disease in young stroke was reviewed and compared between Asian and non-Asian countries. RESULTS: Two male patients with ischemic stroke were found to have genetic mutation of IVS4+919G>A...
August 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Felix Brandl, Chun Meng, Claus Zimmer, Christian Sorg
BACKGROUND:  About two-thirds of all patients with major depressive disorder (MDD) suffer from depressive relapse, the mechanisms of which are still poorly understood. In recent years, analyses of the brain's connectome have increasingly been employed to identify potential biomarkers of depressive relapse. The term "connectome" refers to the map of all structural or functional connections in the brain. It can be investigated by structural or functional magnetic resonance imaging followed by graph theory-based analysis to characterize network topology on the global and regional level...
August 13, 2018: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
Jiangkun Dai, Wenjia Dan, Yunyun Zhang, Junru Wang
γ-Carboline alkaloids are a family of natural and synthetic agents that have diverse bioactivities including antiviral, antibacterial, antifungal, antiparasitic, antitumor, anti-inflammatory, neuropharmacological activities and so on. They constitute an important class of pharmacologically active scaffolds that exhibit biological activity via diverse mechanisms. This review provides an update on the recent developments (2010-2017) in the synthesis and biological activities of these compounds. In cases where sufficient information is available, the mechanism and the structure-activity relationship (SAR) of biological activity are presented, and based on our expertise in the field and careful analysis of the recent literature, for the potential of γ-carboline alkaloids as medicinal drugs is proposed...
August 7, 2018: European Journal of Medicinal Chemistry
Francesco Simonit, Fabio Bassan, Carlo Scorretti, Lorenzo Desinan
Complex suicides are rare and consist in the use of more than one method to induce death, representing a challenging investigation for forensic pathologists. According to the several combinations reported in literature, they have been classified into "typical" (where two common suicide methods are associated) and "atypical" (where more than two methods, or infrequent combinations of suicide methods are involved). In the case discussed here, an elderly man suffering of depression was found dead inside the tool shed of his house with a knife embedded in the abdomen and two plastic bags fastened around the neck using a twine...
August 2, 2018: Forensic Science International
Ashish Sharma, Prashant Kumar
Air pollution exposure to in-pram babies poses a serious threat to their early childhood development, necessitating a need for effective mitigation measures. We reviewed the scientific and grey literature on in-pram babies and their personal exposure to traffic generated air pollutants such as particulate matter ≤10 μm (PM10 ), ≤2.5 μm (PM2.5 ), ≤0.10 μm (ultrafine particles) in size, black carbon and nitrogen oxides and potential mitigation pathways. In-pram babies can be exposed up to ~60% higher average concentrations depending on the pollutant types compared with adults...
August 10, 2018: Environment International
Omar Toumi, Badii Hamida, Manel Njima, Amal Bouchrika, Houssem Ammar, Amira Daldoul, Sonia Zaied, Sadok Ben Jabra, Rahul Gupta, Faouzi Noomen, Khadija Zouari
INTRODUCTION: Adenosquamous carcinoma is a rare colorectal tumor with both an adenocarcinoma and a squamous cell carcinoma component. To the best of our knowledge, only few cases have been reported in the literature. CASE PRESENTATION: We report a case of a 46-year-old woman, hospitalized for large bowel obstruction syndrome. Computed tomography scan showed an irregular mass of the right colic angle, responsible for an occlusive syndrome with distension of the right colon, the appendix and the terminal ileum...
July 11, 2018: International Journal of Surgery Case Reports
John T Pierce, Prasad Kanuparthi, Brendan J Mcshane, Rachel L Welch, Paul J Marcotte, William C Welch
INTRODUCTION: Single-level open lumbar microdiscectomy surgery is one of the most straightforward and effective spinal surgeries performed by spinal surgeons today to treat disc herniation. Though a common operation, little in the literature is reported on the exact overall time, cost and effort associated with the performance of this surgery. The consistency of this operation across institutions and disciplines makes it a good starting point to accurately track the total time and effort of all phases of the surgical intervention...
August 10, 2018: World Neurosurgery
Lindsay Johnston, Taylor Sawyer, Akira Nishisaki, Travis Whtifill, Anne Ades, Heather French, Kristen Glass, Rita Dadiz, Christie Bruno, Orly Levit, Sandeep Gangadharan, Daniel Scherzer, Ahmed Moussa, Marc Auerbach
BACKGROUND: Neonatal tracheal intubation (NTI) is an important clinical skill. Suboptimal performance is associated with patient harm. Simulation training can improve NTI performance. Improving performance requires an objective assessment of competency. Competency assessment tools need strong evidence of validity. We hypothesized that a NTI competency assessment tool with multi-source validity evidence could be developed, and could be used for formative and summative assessment during simulation-based training...
August 10, 2018: Academic Pediatrics
Virginie Dufrost, Jessie Risse, Tatiana Reshetnyak, Maria Satybaldyeva, D U Yao, Xin-Xin Yan, Stella Salta, Grigorios Gerotziafas, Zhi-Cheng Jing, Ismaël Elalamy, Denis Wahl, Stéphane Zuily
BACKGROUND: Direct oral anticoagulants (DOACs) are widely used for secondary prevention of venous thromboembolism (VTE) but their clinical efficacy and safety are not established in Antiphospholipid Syndrome (APS) patients. There is only one randomized controlled trial published while others are still ongoing. Many non-randomized studies have been published in this field with conflicting opinions. PURPOSE OF REVIEW: We conducted a systematic review using MEDLINE, EMBASE and Cochrane databases from 2000 until March 2018 regarding APS patients treated with DOACs...
August 10, 2018: Autoimmunity Reviews
Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, Chitra Prasad, Cam-Tu Nguyen, Craig Campbell
Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder has been named "infantile hypotonia with psychomotor retardation and characteristic facies-3" (IHPRF3). Here we present two sisters with a novel mutation in TBCK (NM_001163435.2: c.753dup; p.(Lys252*)) who have this ultrarare disorder. We have reviewed the literature on the 33 previously reported cases to provide a characterization of this emerging phenotype...
August 10, 2018: European Journal of Medical Genetics
Ruchao Ma, Xiaoyun Zhu, Bo Yan
BACKGROUND: Studies have suggested that high-density lipoprotein (HDL) stimulates scavenger receptor class B type 1 (SR-B1) to promote hepatic uptake of cholesterol. SR-B1 is encoded by scavenger receptor class B member 1 (SCARB1) gene in human. A rare mutation in SCARB1 gene has been associated with coronary heart disease (CHD). A polymorphism rs5888 of SCARB1 gene has been linked to CHD risk in humans. OBJECTIVES: The objective was to investigate the relationship between the SCARB1 gene polymorphism rs5888 and risk of CHD...
August 10, 2018: Gene
Kristen M Kennedy, Chris M Foster, Karen M Rodrigue
Recent evidence indicates that the relationship between increased beta-amyloid (Aβ) deposition and functional task-activation can be characterized by a non-linear trajectory of change in functional activation (Foster et al., 2017), explaining mixed results in prior literature showing both increases and decreases in activation as a function of beta-amyloid burden in cognitively normal adults. Here we sought to replicate this nonlinear effect in the same sample using a different functional paradigm to test the generalizability of this phenomenon...
August 10, 2018: NeuroImage
Bridget E Shields, Misha Rosenbach, Zoe Brown-Joel, Anthony Berger, Bradley A Ford, Karolyn A Wanat
Angioinvasive fungal infections cause significant morbidity and mortality due to their propensity to invade blood vessel walls, resulting in catastrophic tissue ischemia, infarct, and necrosis. While occasionally seen in immunocompetent hosts, opportunistic fungi are emerging in immunosuppressed hosts, including patients with hematologic malignancy, acquired immunodeficiency syndrome (AIDS), organ transplant, and poorly controlled diabetes mellitus. The widespread use of antifungal prophylaxis has led to an "arms race" of emerging fungal resistance patterns...
August 10, 2018: Journal of the American Academy of Dermatology
Guillaume Butler-Laporte, Samuel de l'Étoile-Morel, Matthew P Cheng, Emily G McDonald, Todd C Lee
BACKGROUND: Vancomycin is often used as empiric therapy for methicillin-resistant Staphylococcus aureus (MRSA), but can be associated with clinically important adverse events including renal failure. MRSA colonization swabs are primarily used for infection control; their use as a diagnostic test to inform the decision to add empiric vancomycin therapy has not been well elucidated. METHODS: We performed a Medline and Embase systematic review for peer-reviewed studies reporting the diagnostic accuracy of using MRSA colonization status to predict MRSA infections...
August 10, 2018: Journal of Infection
Lena Alsabban, Felix Jose Amarista, Louis G Mercuri, Daniel Perez
PURPOSE: Idiopathic condylar resorption (ICR) is a relatively uncommon condition. Its diagnosis, etiology, and management options are controversial. Furthermore, it is difficult for 1 provider to collect a large cohort of ICR patients to develop a statistically significant study of these concerns. Therefore, the purpose of this study was to survey experienced temporomandibular joint (TMJ) surgeons who have managed ICR cases relative to these concerns, as well as review the management outcome literature...
July 19, 2018: Journal of Oral and Maxillofacial Surgery
Xueting Feng, Qingze Jiao, Huiru Cui, Mengmeng Yin, Qun Li, Yun Zhao, Hansheng Li, Wei Zhou, Caihong Feng
The oxygen evolution reaction (OER) and oxygen reduction reaction (ORR) are considered to be cornerstones of many energy conversion and storage technologies. It is difficult study high-performance non-precious materials as cost-effective bifunctional electrocatalysts for both the OER and ORR in future practical applications. In this study, NiCo2S4 hollow spheres (NiCo2S4 HSs) were fabricated via an effective and facile one-pot "green" approach in an N,N-dimethylformamide (DMF) - ethylene glycol (EG) binary solution...
August 13, 2018: ACS Applied Materials & Interfaces
Yolanda S Hedberg, Monika Žnidaršič, Gunilla Herting, Ingrid Milošev, Inger Odnevall Wallinder
The titanium-aluminium (6 wt%)-vanadium (4 wt%) (Ti6Al4V) alloy is widely used as an orthopedic and dental implant material due to its high corrosion resistance in such environments. The corrosion resistance is usually determined by means of electrochemical methods, which may not be able to detect other chemical surface reactions. Literature findings report a synergistic effect of the combination of the abundant protein albumin and hydrogen peroxide (H2 O2 ) on the extent of metal release and corrosion of Ti6Al4V...
August 13, 2018: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
Omer Faruk Karatas
BACKGROUND: Laryngeal cancer is a frequent cause of cancer-associated mortality worldwide with an overall poor prognosis along with high mortality rates. Therefore, comprehensive investigation of underlying molecular mechanisms of laryngeal carcinogenesis remains an important problem. METHODS: In this study, proliferative and apoptotic features of Hep-2 cells overexpressing microRNA-33a (miR-33a) were evaluated and in silico analysis along with literature search was used to find putative targets of miR-33a...
August 13, 2018: Head & Neck
T A Kouwenhoven, I M G J Bronckers, P C M van de Kerkhof, M Kamsteeg, M M B Seyger
Some children present with a so-called overlap condition with clinical features of both psoriasis and atopic dermatitis (AD), previously described as 'psoriasis dermatitis'(PD). Though its existence is not questioned in literature, only one study demonstrated clinical characteristics of children with coexisting psoriasis and AD, and its course over time has not been described so far. We conducted a single-center cohort study to assess demographical information, clinical characteristics and follow-up of children with PD (defined as children presenting with clinical features of psoriasis and AD at two or more consecutive consultations) seen at our pediatric psoriasis outpatient clinic between November 2010 and September 2017...
August 13, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Corinne Curt, Jean-Marc Tacnet
In crisis situations, systems, organizations, and people must react and deal with events that are inherently unpredictable before they occur: vital societal functions and thus infrastructures must be restored or adapted as quickly as possible. This capacity refers to resilience. Progress concerning its conceptualization has been made but it remains difficult to assess and apply in practice. The results of this article stem from a literature review allowing the analysis of current advances in the development of proposals to improve the management of infrastructure resilience...
August 13, 2018: Risk Analysis: An Official Publication of the Society for Risk Analysis
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