Abstract In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome‐like”. It is known that the phenotype of these patients becomes less recognisable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange Syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis...
ABSTRACT Purpose Biallelic MFSD8 variants are an established cause of severe late‐infantile subtype of neuronal ceroid lipofuscinosis (v‐LINCL), a severe lysosomal storage disorder, but have also been associated with non‐syndromic adult‐onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish a refined prognosis. Methods ABCA4 locus resequencing was followed by the analysis of other...
ABSTRACT Sorting nexin 27 (SNX27) influences the composition of the cellular membrane via regulation of selective endosomal recycling. Molecular analysis indicates that SNX27 regulates numerous cellular processes through promiscuous interactions with its receptor cargos. SNX27 deficient (Snx27 ‐/‐ ) mice exhibit reduced embryonic survival, marked postnatal growth restriction and lethality. Haploinsufficient mice (Snx27 +/‐ ) show a less severe phenotype, with deficits in learning, memory,...
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Publication date: Available online 14 November 2019Source: Archives of Physical Medicine and RehabilitationAuthor(s): Radha K. Holavanahalli, Jeffrey C. Schneider, A. Cate MillerAbstractA special supplement to the Archives of Physical Medicine and Rehabilitation in 2007 reported selected findings of research from the first 13 years of the BMS Centers and Database Coordinating Center. This special supplement is the second such effort and reports on the growth of the BMS National Longitudinal Database...
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Abstract Genetic incompatibilities contribute to reproductive isolation between many diverging populations, but it is still unclear to what extent they play a role if divergence happens with gene flow. In contact zones between the "Crab" and "Wave" ecotypes of the snail Littorina saxatilis divergent selection forms strong barriers to gene flow, while the role of postzygotic barriers due to selection against hybrids remains unclear. High embryo abortion rates in this species could indicate the presence...
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Summary Disruption of parental sleep in hospital, with frequent awakenings and poor sleep quality, limits the parents' resources to meet the child's needs and maintain parental wellbeing. The aim of the study was to explore and describe how parents perceive their sleep when staying overnight with their sick child in hospital. A further aim was to explore and describe parents’ perception of what circumstances influence their sleep in the hospital. Twenty‐two parents who were accommodated with their...
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Abstract The aim of this cohort study was to document the potential of laser Doppler flowmetry (LDF) for diagnosing tooth vitality in traumatized teeth in a population of 88 referred patients with dental trauma over a period of 8 years (2011–2018). The main reason to refer was tooth discoloration (26%), and the main trauma cause was a traffic injury (35%). Taking into account that referral for LDF is best given within the week after trauma, 66% of referrals were overdue. In 73%...
Abstract Excimer laser coronary angioplasty (ELCA) is a unique revascularization modality that can vaporize plaque and thrombus. Compared to thrombus aspiration therapy, ELCA is reported to provide better microcirculation and reduced peripheral embolism in treatment for acute coronary syndrome. Excimer laser catheters come in various sizes, and we sought to compare the 0.9- and 1.4-mm-diameter catheters. We retrospectively enrolled 90 acute myocardial infarction (AMI) patients...
Abstract This study aims to assess whether central-symmetric corneal thickness reduces off-centered corneal shift caused by intraocular pressure (IOP). In this retrospective study, 122 healthy eyes of 62 presbyopic patients, mostly myopic, were divided into two groups. Two distinct asymmetric corneal ablations were applied in peripheral presbyopia correction to produce central-symmetric corneal thickness, which reduces the off-centered corneal shift by utilizing intraocular pressure....
Abstract In recent years, extensive evidence has been published about usage of laser in oral lesions. The aim of the present study was to review the effectiveness of laser radiation in the treatment of pediatric oral soft tissue problems. The relevant keywords were searched in EBSCO, Medline (via Ovid), PubMed, Scopus, and Web of Science (WOS) databases. Then, eligible case series and controlled clinical trial studies, which published up to the end of 2018, were extracted and...
Abstract In order to purposely decrease the time of the photodynamic therapy (PDT) sessions, this study evaluated the effects of PDT using topical and intradermal delivery of two protoporphyrin (PpIX) precursors with intense pulsed light (IPL) as irradiation source. This study was performed on porcine skin model, using an IPL commercial device (Intense Pulse Light, HKS801). IPL effect on different administration methods of two PpIX precursors (ALA and MAL) was investigated: a...
Abstract This study investigated the local effect of photobiomodulation (PBM) for the treatment of periodontal pockets in patients with periodontitis and type 2 diabetes. Thirty-eight periodontal pockets presenting probing depth (PD) and clinical attachment level (CAL) ≥ 5 mm were selected from 19 patients (two pockets/patient). The selected periodontal pockets were randomly assigned to receive mechanical debridement only (control group) or mechanical debridement with PBM (PBM...
Abstract Methicillin-resistant Staphylococcus aureus (MRSA) is an important cause of infections in humans. Photodynamic therapy using blue light (450 nm) could possibly be used to reduce MRSA on different human tissue surfaces without killing the human cells. It could be less harmful than 300–400 nm light or common disinfectants. We applied blue light ± riboflavin (RF) to MRSA and keratinocytes, in an in vitro liquid layer model, and compared the effect to elimination using common...
Abstract We aimed to investigate the ability of linked color imaging (LCI) versus white light endoscopy (WLE) to detect gastric intestinal metaplasia (GIM). One hundred and seven participants who underwent upper gastrointestinal endoscopy were included. Under WLE endoscopy, biopsies were performed on any suspected abnormal mucosal changes. Under LCI endoscopy, we tested whether the specific color feature of patchy lavender color (PLC) pathologically indicated GIM. Biopsies were...
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Publication date: Available online 14 November 2019Source: CortexAuthor(s): Francesco Panico, Yves Rossetti, Luigi TrojanoAbstractPrism Adaptation (PA) is a behavioral task to assess visuo-motor plasticity and to ameliorate the symptoms of unilateral spatial neglect. Several studies have addressed the effects of PA on both sensory-motor and cognitive processing and the contribution of different brain regions to PA, although via non standardized procedures. The aim of the present review is to gather...
Publication date: Available online 13 November 2019Source: CortexAuthor(s): Marcel Harpaintner, Eun-Jin Sim, Natalie M. Trumpp, Martin Ulrich, Markus KieferAbstractThe grounding of concepts in the sensorimotor brain systems is controversially discussed. Grounded cognition models propose that concepts are represented in modality-specific sensorimotor, but also emotional and introspective brain areas depending on specific experiences during concept acquisition. Accumulating evidence suggests that concrete...
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Publication date: Available online 14 November 2019Source: Journal of VoiceAuthor(s): Xiufa Wu, Wenjing Mao, Jing Zhang, Chunsheng WeiSummaryObjectiveThis study aimed to investigate the treatment outcomes of arytenoid dislocation by a multidimensional evaluation.MethodsFrom April 2010 to May 2018, the records of 57 patients with a history of arytenoid dislocation were reviewed. All the patients were treated with closed reduction under local anesthesia. Arytenoid motion, grade, roughness, breathiness,...
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Mechanism for decreased intestinal smooth muscle function in ileus. Abstract Background Although the development of ileus is widespread and negatively impacts patient outcomes, the mechanism by which ileus develops remains unclear. The purpose of our study was to examine the contribution of myogenic mechanisms to postoperative ileus development and the involvement of inflammation in mediating intestinal smooth muscle dysfunction. Methods Contractile activity and the effects of CXCL1 were...
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Publication date: Available online 14 November 2019Source: American Journal of Infection ControlAuthor(s): Glaucia Dias Arriero, Mônica Taminato, Denise Miyuki Kusahara, Dayana FramHealth care–associated infections impact patient morbidity and mortality, and institutions adopt evidence-based measures to prevent and control such infections. In this study, professionals were observed during patient care under empirical contact precautions. A total of 243 observations were performed in which 39.5% complied...
Publication date: Available online 14 November 2019Source: American Journal of Infection ControlAuthor(s): Eli Schmidt, Franklin Dexter, Jacob Herrmann, Joshua D. Godding, Brent Hadder, Randy W. LoftusBackgroundThe use of surface disinfection wipes after induction of anesthesia improves anesthesia machine cleaning. We assessed whether anesthesia machine surface redesign improves disinfection wipe cleaning by anesthesia residents.MethodsSixteen anesthesia residents were assigned to 2 cases in series....
Publication date: Available online 14 November 2019Source: American Journal of Infection ControlAuthor(s): Jessalyn Almond, Jenine Leal, Kathryn Bush, Ed Rogers, Elizabeth Ann Henderson, Jennifer EllisonBackgroundClostridioides difficile infection (CDI) is one of the most common health care–associated infections. This study assessed the validity of a laboratory-based surveillance method as compared with a traditional, clinical surveillance method to identify hospital-acquired CDIs.MethodsRetrospective...
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The Journal of Antibiotics, Published online: 14 November 2019; doi:10.1038/s41429-019-0257-xNovel benzyl phenyl sulfide derivatives as antibacterial agents against methicillin-resistant Staphylococcus aureus
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Publication date: Available online 13 November 2019Source: Journal of Communication DisordersAuthor(s): Tedra A. Walden, Taylor A. Lesner, Robin M. JonesAbstractPurposeTwo studies assessed implicit (Study 1) and explicit (Study 2) attitudes toward stuttering and those who stutter among speech-language pathologists (SLPs).MethodIn Study 1, 15 SLPs completed the Stuttering Implicit Association Test, a measure of implicit attitudes toward stuttered speech. In Study 2, 40 SLPs provided explicit attitudes...
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Abstract We report a bottom‐up synthesis of iron oxide and gold nanoparticles which are functionalized and combined to form a nanohybrid serving as an immune sensor which selectively binds to tau protein, a biomarker for diagnosis of Alzheimer's disease. Detection of the target analyte is achieved by surface‐enhanced Raman scattering originating from the diagnostic part of the nanohybrid that was prepared from Au nanoparticles functionalized with 5,5'‐dithiobis‐(2‐nitrobenzoic acid) as a Raman reporter...
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Abstract In the last few decades, we have witnessed the development of major new classes of drugs that have a dramatically improved the prognosis of several impactful diseases. Highly active anti‐retroviral therapy (HAART) has exponentially prolonged the lives of individuals infected with human immunodeficiency virus (HIV).1 Immune checkpoint inhibitors have given hope to patients with previously uniformly fatal cancers such as melanoma and renal cell carcinoma.2 Tumor necrosis factor alpha (TNF‐α)...
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Young barley leaf extract (YBL) contains beneficial substances such as fructans, minerals, and vitamins. The effects of YBL administration on the human colonic microbiota and its production of metabolites were...
We developed a simple and fast microplate assay for evaluation of the antimicrobial activity of electrospun nanofiber filtration membranes or similar porous materials for water treatment technologies. Resazuri...
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Abstract Treatment of differentiated thyroid cancer often involves administration of radioactive iodine (I-131) for remnant ablation or adjuvant therapy. However, there is morbidity associated with I-131 therapy, which can result in both acute and chronic complications. Currently, there are no approved radioprotectors that can be used in conjunction with I-131 to reduce complications in thyroid cancer therapy. It is well known that the damaging effects of ionizing radiation are...
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The original version of this article contained an error in one of the author name. The co-author name was published as “Elliot Fishman”, instead it should be “Elliot K. Fishman”. The original article has been corrected.
Abstract Gastrointestinal bleeding is a common cause for hospital admissions and is an important cause of morbidity and mortality. Although endoscopy is accepted as the standard initial diagnostic modality for the evaluation of gastrointestinal bleeding, multiphasic computed tomography (CT) imaging has become an alternative diagnostic tool. Dual-energy CT with post-processing techniques may have additional advantages over single-energy computed tomography in evaluation of gastrointestinal...
Abstract Pelvic floor hernias from the posterior cul-de-sac most often contain small bowel and are called enteroceles, however may contain sigmoid colon (sigmoidocele) or only peritoneal fat (peritoneocele). These cul-de-sac hernias typically cause bulging of the posterior vaginal wall, while anterior vaginal wall bulges are typically secondary to bladder prolapse in patients with pelvic floor deficiency. We report a series of seven patients who presented with anterior vaginal...
Abstract Endometriosis is a common gynecologic disorder characterized by the presence of ectopic endometrial tissue outside the endometrial cavity. Magnetic Resonance Imaging (MRI) has become a mainstay for diagnosis and staging of this disease. In the literature, significant heterogeneity exists in the descriptions of imaging findings and anatomic sites of involvement. The Society of Abdominal Radiology’s Endometriosis Disease-Focused Panel presents this consensus document to...
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Publication date: Available online 14 November 2019Source: Revista Española de Medicina Nuclear e Imagen MolecularAuthor(s): A. Ayan, F. Can, Ü. Goker, S. Alkan, A. Çınar, N. ArslanResumenEl trombo tumoral es una extensión de tumor maligno intravascular que puede ocurrir en varios tipos de cáncer. Los carcinomas hepatocelulares (CHC) son causas comunes de trombo maligno. La presencia de un trombo maligno debido al CHC tiene un pronóstico sombrío, que afecta las opciones de tratamiento. Presentamos...
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Publication date: Available online 14 November 2019Source: Journal of Plastic, Reconstructive & Aesthetic SurgeryAuthor(s): Jonathon Harounian, Allan E. Wulc, Alan B. Brackup, Sathyadeepak Ramesh
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Publication date: Available online 14 November 2019Source: Ultrasound in Medicine & BiologyAuthor(s): Pierre Kunz, Sophia Kiesl, Sascha Groß, Hans-Ulrich Kauczor, Gerhard Schmidmaier, Christian FischerAbstractMuscle perfusion quantification by contrast-enhanced ultrasound (CEUS) may facilitate treatment decisions in musculoskeletal disorders. Translation into clinical routine relies on high intra-observer and inter-observer reliability and transferability between ultrasound devices to enable...
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