4,309,850 results match your criteria Clinical Genetics [Journal]


Degree of optical polarization as a tool for detecting melanoma: proof of principle.

J Biomed Opt 2018 Dec;23(12):1-7

University of British Columbia, School of Biomedical Engineering, Vancouver, Canada.

Determining the optical polarization properties of a skin lesion is a proposed method to differentiate melanoma from other skin lesions. We developed an in vivo Stokes polarimetry probe that fires a laser of known polarization at the skin and measures the Stokes parameters of the backscattered light in one shot. From these measured Stokes parameters, we can calculate the degree of polarization (DOP). Read More

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December 2018
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Lennox-Gastaut Syndrome in Mitochondrial Disease.

Yonsei Med J 2019 Jan;60(1):106-114

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Purpose: Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as Lennox-Gastaut syndrome (LGS) is as high as 25%. This study aimed to investigate the clinical manifestations, diagnoses, treatments, and epilepsy in LGS, which is associated with mitochondrial disease. Read More

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January 2019

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

Yonsei Med J 2019 Jan;60(1):98-105

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Purpose: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important in the diagnosis of MELAS. Read More

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January 2019

Sodium Chloride Aggravates Arthritis via Th17 Polarization.

Yonsei Med J 2019 Jan;60(1):88-97

Division of Rheumatology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Purpose: Sodium chloride (NaCl) has been proposed as a driving factor in autoimmune diseases through the induction of pathogenic CD4 T helper cells that produce interleukin-17 (Th17 cells). This study investigated the effects of NaCl on inflammatory arthritis in mice and humans.

Materials And Methods: Collagen-induced arthritis (CIA) mice were fed a normal or high-salt diet , and clinical and histologic features of arthritis were evaluated. Read More

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January 2019

Characterization of Flow Efficiency, Pulsatility, and Respiratory Variability in Different Types of Fontan Circuits Using Quantitative Parameters.

Yonsei Med J 2019 Jan;60(1):56-64

Division of Cardiovascular Surgery, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Korea.

Purpose: Details on the hemodynamic differences among Fontan operations remain unclear according to respiratory and cardiac cycles. This study was undertaken to investigate hemodynamic characteristics in different types of Fontan circulation by quantification of blood flow with the combined influence of cardiac and respiratory cycles.

Materials And Methods: Thirty-five patients [10 atriopulmonary connections (APC), 13 lateral tunnels (LT), and 12 extracardiac conduits (ECC)] were evaluated, and parameters were measured in the superior vena cava, inferior vena cava (IVC), hepatic vein (HV), baffles, conduits, and left and right pulmonary artery. Read More

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January 2019

Left Ventricular End-Systolic Volume Can Predict 1-Year Hierarchical Clinical Composite End Point in Patients with Cardiac Resynchronization Therapy.

Yonsei Med J 2019 Jan;60(1):48-55

Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Purpose: This study aimed to elucidate which echocardiographic criteria at three time points, for cardiac resynchronization therapy (CRT) response, are accurate in discriminating the hierarchical clinical composite end point (HCCEP).

Materials And Methods: We included 120 patients (age, 66.1±12. Read More

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January 2019

Antineutrophil Cytoplasmic Antibody-Associated Vasculitis in Korea: A Narrative Review.

Yonsei Med J 2019 Jan;60(1):10-21

Division of Rheumatology, Department of Internal Medicine, and Institute for Immunology and Immunological Diseases, Yonsei University College of Medicine, Seoul, Korea.

Antineutrophil cytoplasmic antibody-associated vasculitis (AAV) is a group of systemic necrotising vasculitides, which often involve small vessels, and which lead to few or no immune deposits in affected organs. According to clinical manifestations and pathological features, AAV is classified into three variants: microscopic polyangiitis, granulomatosis with polyangiitis (GPA), and eosinophilic GPA. The American College of Rheumatology 1990 criteria contributed to the classification of AAV, although currently the algorithm suggested by the European Medicines Agency in 2007 and the Chapel Hill Consensus Conference Nomenclature of Vasculitides proposed in 2012 have encouraged physicians to classify AAV patients properly. Read More

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January 2019

Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes.

Yonsei Med J 2019 Jan;60(1):1-9

Department of Interdisciplinary Program in Biomedical Science, Graduate School, Soonchunhyang University, Bucheon, Korea.

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success. Read More

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January 2019

Recommendations on thromboprophylaxis in major joint arthroplasty - many guidelines, little consensus?

J Thromb Haemost 2018 Dec 16. Epub 2018 Dec 16.

Section for Surgical Pathophysiology, Rigshospitalet, Copenhagen University, 2100, Copenhagen, Denmark.

Venous thromboembolic events remain a concern in total hip and knee arthroplasty. Consequently, several guidelines on thromboprophylaxis have been established. However, despite similarities in methodology for evaluation of evidence, discrepancies in guideline recommendations continue to exist. Read More

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December 2018

Alpha and omega in potassium-channel opening.

Authors:
Fredrik Elinder

Acta Physiol (Oxf) 2018 Dec 16:e13240. Epub 2018 Dec 16.

Department of Clinical and Experimental Medicine, Linköping University, Sweden.

In this issue of Acta Physiologica, a study from the laboratory of Peter Larsson shows that the distance between the carboxyl group and the first double bond of polyunsaturated fatty acids (PUFAs) is critical for the affinity of the PUFA molecule to a voltage-gated potassium channel found in the heart . A shorter distance increases the affinity, and the bound PUFA alters the channel's voltage dependence and thereby opens the channel. The efficacy, that is the channel-opening effect of a bound PUFA molecule, partly depends on the distance between the last double bond and the end of the hydrophobic tail. Read More

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December 2018

Serum adipocyte fatty acid-binding protein levels: an indicator of non-alcoholic fatty liver disease in Chinese individuals.

Liver Int 2018 Dec 16. Epub 2018 Dec 16.

Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People's Hospital; Shanghai Clinical Center for Diabetes; Shanghai Key Clinical Center for Metabolic Disease, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai, 200233, China.

Background & Aims: Serum adipocyte fatty acid-binding protein (A-FABP) is closely correlated to metabolic disorders such as obesity and insulin resistance (IR). Non-alcoholic fatty liver disease (NAFLD) is a typical feature of IR in the liver. The aim of this study was to explore the relationship between serum A-FABP levels and NAFLD. Read More

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December 2018

A double blind randomized controlled trial to assess efficacy of bromocriptine in cirrhotic patients with hepatic parkinsonism.

Liver Int 2018 Dec 16. Epub 2018 Dec 16.

Departments of Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.

Background: Parkinsonism like features can be seen in cirrhotics, possibly related to alterations in brain dopamine metabolism, transport and receptor integrity at basal ganglia. Hepatic parkinsonism [HP] is often not suspected and only ammonia reducing therapies are given to such patients. We investigated the efficacy and safety of bromocriptine, a dopaminergic agent, in patients with HP. Read More

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December 2018

Hepatitis c late relapse in patients with directly acting antiviral- related sustained virological response at week 12.

Liver Int 2018 Dec 16. Epub 2018 Dec 16.

Laboratory for the identification of prognostic factors of response to the treatment against infectious diseases, University of Campania, Naples, Italy.

Aim: The aim of the present study was to identify, among the patients with failure to DAA regimen, those with a late relapse (after the achievement of a sustained virological response at week 12) and to characterize the clinical, epidemiological and virological features of these patients.

Material And Methods: 129 HCV patients with non-response to an IFN-free regimen were enrolled. Sanger sequencing of NS3, NS5A and NS5B was performed at failure by home-made protocols. Read More

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December 2018

Dementia-friendly community initiatives: An integrative review.

J Clin Nurs 2018 Dec 16. Epub 2018 Dec 16.

University of Canberra, 3. Stephen Neville.

Aim: To synthesise international research conducted on dementia-friendly community initiatives.

Background: The number of people living with dementia is increasing as a result of population ageing. Impairments related to neurological changes, together with environmental challenges result in disability for people who have dementia. Read More

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December 2018

Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.

Head Neck 2018 Dec 15. Epub 2018 Dec 15.

Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.

Background: Gnathodiaphyseal dysplasia (GDD) is a rare skeletal disorder that has not been well studied.

Methods: Sanger sequencing, whole-genome sequencing (WGS), and bioinformatics and structural modeling analyses were performed.

Results: A family with patients with fibro-osseous lesions of the jawbones were initially diagnosed with cherubism. Read More

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December 2018

Origin site-based staging system of sinonasal inverted papilloma for application to endoscopic sinus surgery.

Head Neck 2018 Dec 15. Epub 2018 Dec 15.

Department of Otolaryngology, Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, China.

Background: We aimed to assess the recurrence risk of sinonasal inverted papillomas (SNIPs), based on a staging system developed according to the originating site of SNIP.

Methods: A total of 200 patients with SNIP were enrolled, and a staging system was developed based on the originating sites and corresponding recurrence rates of tumor in the patients. In the verification phase, 675 patients with SNIPs were enrolled as above, and the originating sites of the SNIPs were confirmed by an endoscopic sinus surgery. Read More

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December 2018

Three-Dimensional Printing in Anatomy Education:Assessing Potential Ethical Dimensions.

Authors:
D Gareth Jones

Anat Sci Educ 2018 Dec 15. Epub 2018 Dec 15.

Department of Anatomy, University of Otago, Dunedin, New Zealand.

New technological developments have frequently had major consequences for anatomy education, and have raised ethical queries for anatomy educators. The advent of three-dimensional (3D) printing of human material is showing considerable promise as an educational tool that fits alongside cadaveric dissection, plastination, computer simulation, and anatomical models and images. At first glance its ethical implications appear minimal, and yet the more extensive ethical implications around clinical bioprinting suggest that a cautious approach to 3D printing in the dissecting room is in order. Read More

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December 2018

Operative and Anesthetic Factors Influencing on Delirium in the Intensive Care Unit: An Analysis of Electronic Health Records.

J Clin Nurs 2018 Dec 16. Epub 2018 Dec 16.

College of Nursing, The Catholic University of Korea, Seoul, Republic of Korea.

Aims And Objectives: The purpose of this study was to analyze the operation, anesthesia, and recovery related factors affecting the occurrence of delirium in the intensive care unit.

Background: The occurrence rate of postoperative delirium is high in surgical patients. Postoperative delirium most frequently occurs usually within 3 days after an operation. Read More

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December 2018

Plasma circulating tumor DNA as a potential tool for disease monitoring in head and neck cancer.

Head Neck 2018 Dec 15. Epub 2018 Dec 15.

Department of Surgery, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA.

Background: Recommendations for perioperative therapy in head and neck cancer are not explicit and recurrence occurs frequently. Circulating tumor DNA is an emerging cancer biomarker, but has not been extensively explored for detection of recurrence in head and neck cancer.

Methods: Patients diagnosed with head and neck squamous cell carcinoma were recruited into the study protocol. Read More

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December 2018

Thalamic Morphometric Changes Induced by First-Person Action Videogame Training.

Eur J Neurosci 2018 Dec 16. Epub 2018 Dec 16.

Siena Brain Investigation & Neuromodulation Lab (Si-BIN Lab), Department of Medicine, Surgery and Neuroscience, Neurology and Clinical Neurophysiology Section, University of Siena, Italy.

Cross-sectional data suggest videogaming as promoting modifications in perceptual and cognitive skills of players, as well as inducing structural brain changes. However, whether such changes are both possible after a systematic gaming exposure, and last beyond the training period, is not known. Here we originally quantified immediate and long-lasting cognitive and morphometric impact of a systematic gaming experience on a first-person shooter (FPS) game. Read More

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December 2018

Nurses' perceptions about a web-based learning intervention concerning supportive family conversations in home health care.

J Clin Nurs 2018 Dec 16. Epub 2018 Dec 16.

Department of Nursing, Umeå University, Sweden.

Aims And Objectives: The aim of this study was to describe the perceptions that municipal primary health care nurses and municipal registered nurses had about a web-based learning intervention concerning supportive family health conversations in municipal home health care.

Background: Even though family health conversations is well grounded in theory with several reported benefits for patients and families, most working nurses have little or no training in practicing family systems nursing including family health conversations. Continued learning is necessarily for nurses, where web-based learning may be one answer of updating the professional skills and knowledge of nurses regarding supporting families. Read More

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December 2018

A new approach of assessing patient safety aspects in routine practice using the example of "doctors handwritten prescriptions".

J Clin Nurs 2018 Dec 16. Epub 2018 Dec 16.

Research Unit for Safety in Health, c/o Division of Plastic, Aesthetic and Reconstructive Surgery, Department of Surgery, Medical University of Graz, Austria.

Aims And Objectives: The aim of this study was to test the method of self- and external assessment as a feedback system to decrease illegibility and incorrectness of handwritten prescriptions and to reduce additional workload for nursing staff.

Background: Illegibility and incorrectness of handwritten prescriptions occur very often and are the most crucial factors affecting patient safety.

Design: Self- versus external assessment using a 15 items checklist. Read More

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December 2018

House dust mite drives pro-inflammatory eicosanoid reprogramming and macrophage effector functions.

Allergy 2018 Dec 16. Epub 2018 Dec 16.

Center of Allergy and Environment (ZAUM), Technical University of Munich and Helmholtz Center Munich, member of the German Center for Lung Research, 80802, Munich, Germany.

Background: Eicosanoid lipid mediators play key roles in type 2 immune responses, e.g. in allergy and asthma. Read More

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December 2018

Structural Validity of the World Assumption Scale.

J Trauma Stress 2018 Dec;31(6):816-825

Department of Philosophy, Vrije Universiteit, Amsterdam, the Netherlands.

The World Assumption Scale (WAS) is a frequently used measure in trauma research. The 32 items of the WAS are intended to represent eight assumptions about the benevolence of the world, the meaningfulness of events, and the worthiness of the self. Debate about the validity of the WAS is ongoing, particularly in terms of its empirical factor structure; some studies have confirmed a model of eight correlated factors whereas several other studies have not. Read More

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December 2018

Daily oral cyanocobalamin supplementation in Beagles with hereditary cobalamin malabsorption (Imerslund-Gräsbeck syndrome) maintains normal clinical and cellular cobalamin status.

J Vet Intern Med 2018 Dec 15. Epub 2018 Dec 15.

Department of Clinical Chemistry, University Children's Hospital Zurich, Zurich, Switzerland.

Background: Efficacy of PO cobalamin (Cbl) supplementation in dogs with hereditary Cbl malabsorption (Imerslund-Gräsbeck syndrome, IGS) is unknown.

Objectives: To evaluate PO Cbl supplementation in Beagles with IGS previously treated parenterally. We hypothesized that 1 mg cyano-Cbl daily PO would maintain clinical and metabolic remission. Read More

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December 2018
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Re-examining the role of adjuvant radiation therapy.

J Surg Oncol 2018 Dec 16. Epub 2018 Dec 16.

Surgical Oncology, Northern Clinical School, The University of Sydney, Sydney, Australia.

Previously important roles for adjuvant radiotherapy (RT) in melanoma patients included improved regional control after resection of high-risk nodal disease, to reduce local recurrence for desmoplastic, and other subtypes of melanoma with neurotropism, reducing in-brain relapse of brain metastases after surgery and other situations on a case-by-case basis. This review evaluates the integration of adjuvant RT into clinical practice at this time of rapidly evolving knowledge and improving outcomes from effective systemic therapy. Read More

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December 2018

From Endogenous Compounds as Biomarkers to Plasma-Derived Nanovesicles as Liquid Biopsy; Has the Golden Age of Translational PK-ADME-DDI Science Finally Arrived?

Clin Pharmacol Ther 2018 Dec 16. Epub 2018 Dec 16.

College of Medicine and Public Health, Flinders University, Adelaide, Australia.

It is now established that a drug's pharmacokinetics-absorption-distribution-metabolism-excretion-drug-drug interaction (PK-ADME-DDI) profile can be modulated by age, disease, and genotype. In order to facilitate subject phenotyping and clinical DDI assessment, therefore, various endogenous compounds (in plasma and urine) have been pursued as drug-metabolizing enzyme and transporter biomarkers. Compared to biomarkers, however, the topic of circulating extracellular vesicles as "liquid biopsy" has received little attention within the ADME community; most organs secrete nanovesicles (e. Read More

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December 2018

Elevated levels of serum nitrite and nitrate, NOx, are associated with increased total and cardiovascular mortality in an 8-year follow-up study.

Eur J Clin Invest 2018 Dec 16:e13061. Epub 2018 Dec 16.

National Medical Research Center for Preventive Medicine of the Ministry of Healthcare of Russian Federation, 10 Petroverigsky per., Building 3, Moscow, 101990, Russia.

Background: Nitric oxide (NO) is one of the key regulators of vascular function. Abnormal NO signaling is linked to various cardiovascular diseases. We studied associations between circulating levels of nitric oxide metabolites, nitrite and nitrate (NOx), and total and cardiovascular mortality in a prospective 8-year follow-up cohort study in 1869 patients aged over 55 years. Read More

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December 2018

Red flags for appropriate referral to the gastroenterologist & rheumatologist of patients with inflammatory bowel disease & spondyloarthritis.

Clin Exp Immunol 2018 Dec 15. Epub 2018 Dec 15.

IBD Unit, Presidio Columbus, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, Rome, Italy.

Collaboration between gastroenterologists and rheumatologists is recommended for correct management of patients with associated spondyloarthritis (SpA) and inflammatory bowel disease (IBD). We aimed to establish the appropriateness of several red flags for a prompt specialist referral. A systematic review of the literature was performed using the GRADE method to describe the prevalence of coexisting IBD-SpA and the diagnostic accuracy of red flags proposed by a steering committee. Read More

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December 2018

Management of Cerebral Microbleeds in Clinical Practice.

Transl Stroke Res 2018 Dec 15. Epub 2018 Dec 15.

Stroke Program, Department of Medicine, University of Alberta, Edmonton, T6G 2G3, Canada.

Cerebral microbleeds (CMBs) are very frequent diagnoses with MRI imaging in the elderly or in patients with cerebral infarction, intracranial hemorrhage (ICH), and dementia. The mechanisms for CMBs are not fully understood but may be secondary to injury to the vascular wall from long-standing hypertension or amyloid deposition in the tissue. The presence of CMB increases the risk for stroke, dementia, and death. Read More

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December 2018

Lipophilic statins inhibit growth and reduce invasiveness of human endometrial stromal cells.

J Assist Reprod Genet 2018 Dec 15. Epub 2018 Dec 15.

Division of Reproductive Endocrinology and Infertility, Department of Reproductive Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093-0633, USA.

Purpose: To compare effects of lipid-soluble statins (simvastatin, lovastatin, atorvastatin) and water-soluble statin (pravastatin) on growth and invasiveness of human endometrial stromal (HES) cells.

Methods: Endometrial biopsies were collected during the proliferative phase from five volunteers. HES cells were isolated and cultured in the absence or in the presence of simvastatin, lovastatin, atorvastatin, and pravastatin. Read More

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December 2018

Tuftsin phosphorylcholine-a novel compound harnessing helminths to fight autoimmunity.

Immunol Res 2018 Dec 15. Epub 2018 Dec 15.

Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, affiliated with the Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

The distinction that in areas where helminthic infections are common, autoimmune diseases are less prevalent, led to the investigation of immune modulatory properties of helminths and their derivatives. Such are phosphorylcholine (PC) moieties which are a component of secreted products of helminths. PC has been broadly studied for its attenuating effects on the human immune system. Read More

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December 2018

Trials with proxy-reported outcomes registered on the Australian New Zealand Clinical Trials Registry (ANZCTR).

Qual Life Res 2018 Dec 15. Epub 2018 Dec 15.

Department of Health Services, Policy & Practice, Brown University School of Public Health, Providence, USA.

Aims: A proxy is someone other than a patient who reports a patient's outcomes as if they are the patient. Due to known discordance with patient reports, proxies are often not recommended in clinical trials; however, proxies may be needed in certain research contexts. We aimed to identify and describe trials registered on the Australian New Zealand Clinical Trials Registry (ANZCTR) with proxy-reported endpoints. Read More

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December 2018

Comparative effectiveness of Sumaq and Neem extract cream, Eniloconazole and glycerine iodine on dermatophytosis in Arabian horses: a randomized clinical trial.

Trop Anim Health Prod 2018 Dec 15. Epub 2018 Dec 15.

Department of Pharmacognosy, Faculty of Pharmacy, Mansoura University, Mansoura, 35516, Egypt.

Dermatophytosis is a contagious fungal disease among animal communities. The major concerns of dermatophytosis are cost of treatment, difficulty of control, and the public health consequences. The objective of the present study was to compare the clinical efficacy of Sumaq and Neem extract cream with that of traditional treatments, eniloconazole and glycerine iodine, on dermatophytosis in Arabian horses. Read More

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December 2018

Efficacy of allergen-blocker mechanical barrier gel on symptoms and quality of life in patients with allergic rhinitis.

Eur Arch Otorhinolaryngol 2018 Dec 15. Epub 2018 Dec 15.

Division of Pediatric Immunology and Allergy, Dokuz Eylul University, Izmir, Turkey.

Propose: Allergic rhinitis (AR) is a very common, chronic and global health problem. In the last two decades, the efficiency of barrier-enforcing measures in AR has been investigated. In this study, we aimed to evaluate the effect of allergen-blocker mechanical barrier gel (MBG) (AlerjiSTOP) treatment on symptoms and quality of life score (QoLS) in patients with seasonal and perennial allergic rhinitis. Read More

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December 2018

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133, Milan, Italy.

Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Read More

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December 2018

Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation.

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milan, Italy.

Objective: The hexanucleotide repeat expansion in C9orf72 is an associated genetic cause in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In the "ALS/FTD" spectrum prevails clinical heterogeneity and an in vivo knowledge of the underling brain dysfunction in patients carrying C9orf72 mutation remain limited and only described at group level. The study aimed to assess the brain metabolic alterations characterizing patients with C9orf72 mutation using FDG-PET in single individuals. Read More

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December 2018

Sudden unexpected infantile death due to undiagnosed ventricular septal defect-associated heart failure with single coronary artery.

Forensic Sci Med Pathol 2018 Dec 15. Epub 2018 Dec 15.

Department of Legal Medicine, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8521, Japan.

Ventricular septal defect (VSD) generally has a good prognosis unless complicated by heart failure (HF). We report a case of sudden infant death because of clinically undiagnosed VSD in a seemingly healthy 16-day-old boy. Although a cardiac murmur was auscultated at birth, detailed clinical examination was not performed. Read More

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December 2018

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Endocrine 2018 Dec 15. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milano, Italy.

Ehlers-Danlos syndrome (EDS) is an emerging cause of skeletal fragility. Mechanism of bone damage are probably multifactorial in line with the different skeletal phenotypes that can be found in clinical practice. A structured approach to clinical management of bone metabolic complication in EDS is proposed. Read More

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December 2018

Visualization technologies for 5-ALA-based fluorescence-guided surgeries.

J Neurooncol 2018 Dec 15. Epub 2018 Dec 15.

Department of Mechanical Engineering, University of Washington, Seattle, WA, 98195, USA.

Introduction: 5-ALA-based fluorescence-guided surgery has been shown to be a safe and effective method to improve intraoperative visualization and resection of malignant gliomas. However, it remains ineffective in guiding the resection of lower-grade, non-enhancing, and deep-seated tumors, mainly because these tumors do not produce detectable fluorescence with conventional visualization technologies, namely, wide-field (WF) surgical microscopy.

Methods: We describe some of the main factors that limit the sensitivity and accuracy of conventional WF surgical microscopy, and then provide a survey of commercial and research prototypes being developed to address these challenges, along with their principles, advantages and disadvantages, as well as the current status of clinical translation for each technology. Read More

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December 2018

Elucidating the beneficial effects of melphalan, adriamycin, and corticoids in combination with bortezomib against multiple myeloma in vitro.

Naunyn Schmiedebergs Arch Pharmacol 2018 Dec 15. Epub 2018 Dec 15.

Department of Clinical Pharmacology and Pharmacoepidemiology, Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany.

Combining bortezomib with other anti-cancer drugs or glucocorticoids is more efficient in multiple myeloma than bortezomib alone. However, the molecular mechanism of this beneficial effect is largely unknown. To investigate the effects of these compounds on bortezomib's anti-proliferative potency and its intracellular accumulation and potency to inhibit the chymotrypsin-like proteasomal subunit, seven myeloma cell lines were investigated after exposure to bortezomib alone or either combined with adriamycin plus dexamethasone (PAD regimen) or melphalan plus prednisolone (VMP regimen), respectively. Read More

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December 2018

Photoplethysmographic characterization of vascular tone mediated changes in arterial pressure: an observational study.

J Clin Monit Comput 2018 Dec 15. Epub 2018 Dec 15.

Hedenstierna Laboratory, Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.

To determine whether a classification based on the contour of the photoplethysmography signal (PPGc) can detect changes in systolic arterial blood pressure (SAP) and vascular tone. Episodes of normotension (SAP 90-140 mmHg), hypertension (SAP > 140 mmHg) and hypotension (SAP < 90 mmHg) were analyzed in 15 cardiac surgery patients. SAP and two surrogates of the vascular tone, systemic vascular resistance (SVR) and vascular compliance (Cvasc = stroke volume/pulse pressure) were compared with PPGc. Read More

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December 2018

Immunotherapy Advances in Urothelial Carcinoma.

Curr Treat Options Oncol 2018 Dec 15;19(12):79. Epub 2018 Dec 15.

Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.

Opinion Statement: Checkpoint inhibitors have monumentally transformed the treatment of metastatic urothelial carcinoma. While the efficacy and safety of the different agents are similar in platinum-refractory metastatic urothelial carcinoma, pembrolizumab is the only agent that was superior to chemotherapy in a randomized phase III trial. Pembrolizumab and atezolizumab are also approved as first-line therapies in cisplatin-ineligible metastatic urothelial carcinoma. Read More

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December 2018

TP53 inactivation and expression of methylation-associated proteins in gastric adenocarcinoma with enteroblastic differentiation.

Virchows Arch 2018 Dec 15. Epub 2018 Dec 15.

Department of Human Pathology, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-Ku, Tokyo, 113-8421, Japan.

Gastric adenocarcinoma with enteroblastic differentiation (GAED) is a rare variant of aggressive adenocarcinoma. We demonstrated previously that GAED is genetically characterized by frequent TP53 mutation. In this study, we aimed to further clarify the mechanism of inactivation of TP53 in GAED in the light of promoter methylation of TP53, and expression of methylation-associated proteins such as Ten-eleven translocation (TET) 1 and 5-hydroxymethylcytosine (5-hmc) in addition to ATM mutations. Read More

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December 2018

Idiopathic Pulmonary Fibrosis for Cardiologists: Differential Diagnosis, Cardiovascular Comorbidities, and Patient Management.

Adv Ther 2018 Dec 15. Epub 2018 Dec 15.

U.O. di Pneumologia e Terapia Semi-Intensiva Respiratoria - Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe - MultiMedica IRCCS, Milan, Italy.

The presence of rare comorbidities in patients with cardiovascular disease (CVD) presents a diagnostic challenge to cardiologists. In evaluating these patients, cardiologists are faced with a unique opportunity to shorten diagnosis times and direct patients towards correct treatment pathways. Idiopathic pulmonary fibrosis (IPF), a type of interstitial lung disease (ILD), is an example of a rare disease where patients frequently demonstrate comorbid CVD. Read More

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December 2018

Efficacy and Safety of CFTR Corrector and Potentiator Combination Therapy in Patients with Cystic Fibrosis for the F508del-CFTR Homozygous Mutation: A Systematic Review and Meta-analysis.

Adv Ther 2018 Dec 15. Epub 2018 Dec 15.

Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China.

Introduction: Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. The combination of a cystic fibrosis transmembrane conductance regulator (CFTR) corrector and potentiator has provided a benefit by decreasing sweat chloride concentration in CF for the F508del-CFTR homozygous mutation, but it remains controversial in lung function, nutritional status, clinical score and safety.

Methods: The authors performed a systematic review and meta-analysis of randomized controlled trials (RCTs) to evaluate the efficacy and safety of combination therapy on lung function, nutritional status, clinical score and safety in CF for the F508del-CFTR homozygous mutation. Read More

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December 2018

Evaluation of Physicochemical and Biological Stability of 36-Months-Aged SB5 (Adalimumab Biosimilar) for 4 Weeks at Room Temperature.

Adv Ther 2018 Dec 15. Epub 2018 Dec 15.

Analytical Method Development Team, Samsung Bioepis Co., Ltd., Incheon, South Korea.

Introduction: Tumor necrosis factor (TNF-alpha) inhibitors, such as adalimumab, have shown success in treating autoimmune inflammatory diseases but are associated with substantial financial burdens to the healthcare system. Biosimilars, which are highly similar to biologic agents, offer the potential to reduce the financial burden of treatment. In the case of TNF-alpha inhibitors, they may also offer improved stability and enable prolonged use. Read More

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December 2018

Deep sequencing salivary proteins for periodontitis using proteomics.

Clin Oral Investig 2018 Dec 15. Epub 2018 Dec 15.

Department of Preventive and Social Dentistry, School of Dentistry, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.

Objectives: Saliva is a bodily fluid transuded from gingival crevice fluid and blood and contains many proteins. Proteins in saliva have been studied as markers for periodontal diseases. Mass spectrometric analysis is applied to investigate biomarker proteins that are related to periodontitis. Read More

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December 2018

Unhealthy lifestyle and oxidative damage in childhood obesity.

Eat Weight Disord 2018 Dec 15. Epub 2018 Dec 15.

Dietetics and Clinical Nutrition Laboratory, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy.

Purpose: Oxidized LDL cholesterol (oxLDL) has been considered as a sensor of oxidative stress (OS) in childhood obesity. We integrated and related our oxLDL existing results previously assessed in overweight/obese children to lifestyle variables to investigate OS-related lifestyle variables.

Methods: 178 Caucasian children/adolescents have been evaluated and according to BMI percentiles have been classified as normal weight (BMI < 75th); overweight (BMI 75-97th) and obese (BMI > 97th). Read More

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December 2018

Association between REM sleep and obstructive sleep apnea in obese and overweight adolescents.

Sleep Breath 2018 Dec 15. Epub 2018 Dec 15.

Children's Hospital Los Angeles, 4650 Sunset Blvd., #83, Los Angeles, CA, USA.

Purpose: Overweight and obese children have demonstrated reduced rapid eye movement (REM) sleep, affecting energy balance regulation and predisposition to weight gain. Obstructive sleep apnea (OSA) is a known cause of decreased REM sleep. The purpose of this study is to examine the association between the percentage of REM sleep, BMI z-score, and OSA severity in overweight and obese adolescents. Read More

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December 2018
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