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https://www.readbyqxmd.com/read/29775997/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants
#1
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen-2) and ensemble methods (REVEL, BayesDel). Reference sets of assumed pathogenic and assumed benign variants were defined using functional and/or clinical data...
May 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/29775980/-comparison-of-the-masaoka-koga-classification-with-the-new-tnm-staging-of-the-iaslc-itmig-for-thymoma-and-thymic-carcinoma
#2
Michael Ried, Maria-Magdalena Eicher, Reiner Neu, Dietmar Kraus, Sebastian Inderhees, Alexander Marx, Hans-Stefan Hofmann
BACKGROUND: The Masaoka-Koga classification describes the extent and spread of thymic epithelial malignancies. The objective of this study was to evaluate the Masaoka-Koga and the new TNM-staging system regarding differences in stage distributions, clinical implementation and therapeutic consequences. METHODS: Retrospective analysis of all patients who underwent surgery between January 2005 and December 2015 for thymoma/thymic carcinoma in two centres for thoracic surgery...
May 18, 2018: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/29775941/effects-of-arm-weight-on-gait-performance-in-healthy-subjects
#3
Hyung Suk Yang, C Roger James, Lee T Atkins, Steven F Sawyer, Phillip S Sizer, Neeraj A Kumar, Jongyeol Kim
Previous studies have investigated how additional arm weights affect gait. Although light weights (0.45 kg) seemed to elicit performance improvements in Parkinsonian patients, it was not studied how light weights affect gait parameters in healthy individuals. It is important to understand normal responses in a healthy population so that clinical effects might be better understood. Therefore, the purpose of this study was to investigate the effects of arm weights on arm swing amplitude, gait performance, and muscle activity in healthy people...
May 15, 2018: Human Movement Science
https://www.readbyqxmd.com/read/29775878/repositioning-of-diabetes-treatments-for-depressive-symptoms-a-systematic-review-and-meta-analysis-of-clinical-trials
#4
REVIEW
Calum D Moulton, Christopher W P Hopkins, Khalida Ismail, Daniel Stahl
Depression is a common comorbidity in diabetes but conventional antidepressant treatments do not consistently improve outcomes. We tested whether established diabetes treatments can also improve depressive symptoms and examined biological correlates of response. We performed a multi-database systematic search of all clinical trials, which measured the effect of licensed diabetes treatments on depressive symptoms using a validated questionnaire. Results of randomised controlled trials (RCT's) were pooled for meta-analysis...
May 7, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29775851/comparative-study-of-quality-of-life-anxiety-depression-and-fatigue-among-patients-with-neuromyelitis-optica-spectrum-disorder-and-multiple-sclerosis-the-first-report-from-iran
#5
Mahdi Barzegar, Shervin Badihian, Omid Mirmosayyeb, Fereshteh Ashtari, Maryam Jamadi, Shohreh Emami, Leila Jahani, Armaghan Safavi, Vahid Shaygannejad
BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) are associated with reduced Health Related Quality of Life (HRQOL). To the best of our knowledge, change of HRQOL in patients with NMOSD has not been yet measure in Iran. The objective of this study was to assess HRQOL in NMOSD and MS patients and identify related factors METHODS: A cross sectional study of 41 patients with NMOSD and 136 age and sex-match MS patients was performed. A series of questionnaires including Persian validated questionnaires on HRQOL (SF-36), fatigue (MFIS), depression (BDI-II), anxiety (HAM-A) and sleep quality (PSQI) were record...
April 14, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29775824/is-urine-a-reliable-clinical-sample-for-the-diagnosis-of-human-visceral-leishmaniasis-a-systematic-review-and-meta-analysis
#6
REVIEW
Shabnam Asfaram, Saeed Hosseini Teshnizi, Mahdi Fakhar, Elham Sadat Banimostafavi, Masoud Soosaraei
Visualization of amastigotes in lymph nodes, bone marrow, and other tissues samples remains the gold standard method for the diagnosis of visceral leishmaniasis (VL) in humans. This gold standard diagnostic method uses a technically challenging microscopy procedure that is often not accessible in many places in the world where VL is endemic. Here, we report the current systematic review and meta-analysis to evaluate whether urine is a reliable clinical sample for diagnosis of human VL. Data were extracted from ten available databases during the period from 2002 to 2017...
May 15, 2018: Parasitology International
https://www.readbyqxmd.com/read/29775814/composite-self-expanding-bioresorbable-prototype-stents-with-reinforced-compression-performance-for-congenital-heart-disease-application-computational-and-experimental-investigation
#7
Fan Zhao, Wen Xue, Fujun Wang, Laijun Liu, Haoqin Shi, Lu Wang
Stents are vital devices to treat vascular stenosis in pediatric patients with congenital heart disease. Bioresorbable stents (BRSs) have been applied to reduce challenging complications caused by permanent metal stents. However, it remains almost a total lack of BRSs with satisfactory compression performance specifically for children with congenital heart disease, leading to importantly suboptimal effects. In this work, composite bioresorbable prototype stents with superior compression resistance were designed by braiding and annealing technology, incorporating poly (p-dioxanone) (PPDO) monofilaments and polycaprolactone (PCL) multifilament...
May 8, 2018: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/29775810/a-validated-uplc-ms-ms-method-for-the-quantitation-of-an-unstable-peptide-monocyte-locomotion-inhibitory-factor-mlif-in-human-plasma-and-its-application-to-a-pharmacokinetic-study
#8
Xuemei Liu, Pei Hu, Yongsheng Wang, Xizhu Wang, Jinghua Huang, Jin Li, Cheng Li, Hongyun Wang, Ji Jiang
Monocyte locomotion inhibitory factor (MLIF, Met-Gln-Cys-Asn-Ser), a pentapeptide with anti-inflammatory activity, was developed for neural protection in acute ischemic stroke. Determination of MLIF in human plasma samples is of great importance for pharmacokinetic evaluation in clinical studies. A reliable and sensitive method based on ultra-performance liquid chromatography coupled with tandem mass spectrometry (UPLC-MS/MS) was established for the measurement of MLIF in human plasma. Instability of peptide in matrix was the primary challenge in method development, which was properly resolved by addition of acidification reagents like sulfuric acid...
April 10, 2018: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29775800/insertion-and-presence-of-fine-wire-intramuscular-electrodes-to-the-lumbar-paraspinal-muscles-do-not-affect-muscle-performance-and-activation-during-high-exertion-spinal-extension-activities
#9
Szu-Ping Lee, Jo Armour Smith, Matthew Kimber, Kelsey Houk
BACKGROUND: Low back pain (LBP) is commonly associated with paraspinal muscle dysfunctions. A method to study deep lumbar paraspinal (i.e. multifidus) muscle function and neuromuscular activation pattern is intramuscular electromyography (EMG). Previous studies have shown that the procedure does not significantly impact muscle function during activities involving low-level muscle contractions. However, it is currently unknown how muscular function and activation are affected during high-exertion contractions...
May 15, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29775789/e-coli-encoding-blandm-5-associated-with-community-acquired-uti-cases-with-unusual-mic-creep-like-phenomenon-against-imipenem
#10
Varsha Rani Gajamer, Amitabha Bhattacharjee, Deepjyoti Paul, Chandrayee Deshamukhya, Ashish Kr Singh, Nilu Pradhan, Hare Krishna Tiwari
OBJECTIVES: Carbapenemase-producing Escherichia coli are of major clinical concern. The present study aimed to identify NDM-5 producing E.coli associated with community-acquired urinary tract infection, co-harboring ESBL genes and a pattern of imipenem MIC creep. METHODS: A total of 973 urine samples were collected from females of age between 18-49 diagnosed with UTI. Isolates were identified by standard microbiological procedures. Presence of blaNDM and ESBL genes was determined by PCR assay and sequencing...
May 15, 2018: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/29775766/miyazaki-syndrome-due-to-ventriculoperitoneal-shunt-treatment-a-case-report
#11
Anita Kovács, Tamás Németh, Angéla Csomor, Tímea Novák, Ferenc Kövér, Erika Vörös
The signs and pathomechanism of Miyazaki syndrome is presented through the case of a young female patient. The patient underwent placement of a ventriculoperitoneal (VP) shunt with a pressure-adjustable valve for communicating hydrocephalus years before presenting to our department with the complaints of constant headache and unsteady gait. On the basis of the clinical picture and her history, plain and contrast-enhanced cranial and whole spine magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) examinations were performed, with the scans revealing signs indicative of cerebrospinal fluid (CSF) hypotension typical of Miyazaki syndrome...
May 15, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29775675/associations-between-angiotensinogen-m235t-polymorphisms-and-the-risk-of-diabetic-nephropathy-a-meta-analysis
#12
Bo Zhou, Min Wen, Ling Mi, Cu-Jiao Hu, Yi Zhang, Jian-Tar Wang, Lei Tang
AIMS: The aim of the present study was to clarify the potential relationship of angiotensinogen (AGT) M235T polymorphism and diabetic nephropathy (DN) risk. METHODS: Comprehensive electronic search in Pubmed, Web of Science, EBSCO, Embase, the Cochrane Library and China National Knowledge Infrastructure (CNKI) to find original articles about the association between AGT M235T polymorphism and DN risk published before 27 September 2017. Literature quality assessment was performed with the Newcastle-Ottawa Scale...
May 15, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29775625/reduction-sensitive-polymeric-nanomedicines-an-emerging-multifunctional-platform-for-targeted-cancer-therapy
#13
Huanli Sun, Yifan Zhang, Zhiyuan Zhong
The development of smart delivery systems that are robust in circulation and quickly release drugs following selective internalization into target cancer cells is a key to precision cancer therapy. Interestingly, reduction-sensitive polymeric nanomedicines showing high plasma stability and triggered cytoplasmic drug release behavior have recently emerged as one of the most exciting platforms for targeted delivery of various anticancer drugs including small chemical drugs, proteins, and nucleic acids. In vivo studies in varying tumor models reveal that these reduction-sensitive multifunctional nanomedicines outperform the currently used clinical formulations and reduction-insensitive counterparts, bringing about not only significantly enhanced tumor selectivity, accumulation and inhibition efficacy but also markedly reduced systemic toxicity and improved therapeutic index...
May 15, 2018: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29775622/clinicopathological-analysis-of-immunohistochemical-expression-of-retinoic-acid-related-orphan-receptor-%C3%AE-t-in-peripheral-t-cell-lymphoma-not-otherwise-specified
#14
Eriko Yanagida, Hiroaki Miyoshi, Keisuke Kawamoto, Kazutaka Nakashima, Kotaro Matsuda, Kyohei Yamada, Reiji Muto, Koji Nagafuji, Masao Seto, Koichi Ohshima
Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is cytologically and phenotypically heterogeneous. Retinoic acid-related orphan receptor-γt (RORγt) is a transcription factor that regulates the differentiation of naïve CD4+ helper T-cells to Th17 cells. In the present study, we immunohistochemically confirmed the expression of RORγt in PTCL-NOS. Pathological and clinical investigations were performed for 170 cases of PTCL-NOS. RORγt-positive cases accounted for 17.6% (30/170) of the total cases and they showed a significantly higher frequency of CD8 positivity (P=...
May 15, 2018: Human Pathology
https://www.readbyqxmd.com/read/29775566/the-challenge-of-discordant-serology-in-chagas-disease-the-role-of-two-confirmatory-techniques-in-inconclusive-cases
#15
Zaira Moure, Elena Sulleiro, Laura Iniesta, Carmen Guillen, Israel Molina, M Magdalena Alcover, Cristina Riera, Tomás Pumarola, Roser Fisa
Serodiscordance in Chagas disease (CD) remains a challenge since individuals with inconclusive results are clinically complicated to manage. This work, conducted outside the endemic area, aims to compare two different confirmatory techniques for the diagnosis of CD in individuals without a definitive diagnosis, to analyze the performance of the screening techniques in this group of patients, and to describe the serological follow-up of these subjects over time. Sera from 48 individuals with repeatedly discordant results by one recombinant enzyme immunoassay (r-ELISA) and one native ELISA (n-ELISA), were included in the study...
May 15, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29775564/the-antibody-rhigm22-facilitates-hippocampal-remyelination-and-ameliorates-memory-deficits-in-the-cuprizone-mouse-model-of-demyelination
#16
Charlene Cui, Jing Wang, Ariana P Mullin, Anthony O Caggiano, Tom J Parry, Raymond W Colburn, Elias Pavlopoulos
Multiple sclerosis (MS) is a chronic, inflammatory demyelinating disease of the CNS. In addition to motor, sensory and visual deficits, MS is also characterized by hippocampal demyelination and memory impairment. We recently demonstrated that a recombinant human-derived monoclonal IgM antibody, which is designated rHIgM22 and currently in clinical development for people with MS, accelerates remyelination of the corpus callosum in the brains of cuprizone-treated mice. Here, we investigated the effects of rHIgM22 in the hippocampus and on hippocampal-dependent learning and memory in the same mouse model of cuprizone-induced demyelination and spontaneous remyelination...
May 15, 2018: Brain Research
https://www.readbyqxmd.com/read/29775554/outcomes-and-predictors-of-early-infection-after-heart-transplantation
#17
Kendall C Shultes, Jerrica E Shuster, Scott Micek, Justin M Vader, Keki Balsara, Akinobu Itoh, Bethany R Tellor
BACKGROUND: Limited data exist on the incidence and outcome of early infection after orthotopic heart transplantation (OHT). The purpose of this study was to describe characteristics and outcomes of OHT recipients with an early infection and to identify predictors of such infections. METHODS: This retrospective, single-center study included patients greater than 18 years of age who underwent OHT from February 2009 to May 2014 and had an infection within 30 days of transplantation...
May 18, 2018: Surgical Infections
https://www.readbyqxmd.com/read/29775509/exploring-the-growth-trajectory-of-cultural-competence-in-taiwanese-paediatric-nurses
#18
Chiu-I Chen, Mei-Chih Huang
AIM: The purpose of this study was to explore the evolution of cultural competence in Taiwanese paediatric nurses. BACKGROUND: Because transnational marriage has become a social phenomenon in Taiwan, the proportion of newborns of new immigrant mothers accounts for 8-10% of total births every year. Since family-centered care is the core value of paediatric nursing, it is necessary to teach caregivers how to take care of hospitalized children and perform related nursing care as well as to determine what difficulties nurses will encounter when they care for patients from diverse cultures and to find solutions for these problems...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29775454/in-vivo-and-in-vitro-studies-of-cry5b-and-nicotinic-acetylcholine-receptor-agonist-anthelmintics-reveal-a-powerful-and-unique-combination-therapy-against-intestinal-nematode-parasites
#19
Yan Hu, Melanie Miller, Bo Zhang, Thanh-Thanh Nguyen, Martin K Nielsen, Raffi V Aroian
BACKGROUND: The soil-transmitted nematodes (STNs) or helminths (hookworms, whipworms, large roundworms) infect the intestines of ~1.5 billion of the poorest peoples and are leading causes of morbidity worldwide. Only one class of anthelmintic or anti-nematode drugs, the benzimidazoles, is currently used in mass drug administrations, which is a dangerous situation. New anti-nematode drugs are urgently needed. Bacillus thuringiensis crystal protein Cry5B is a powerful, promising new candidate...
May 18, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29775451/-recurrent-urolithiasis-as-a-symptom-of-primary-hyperparathyroidism-in-a-16-year-old-boy
#20
Monika Wojciechowska, Beata Bieniaś, Aleksandra Sobieszczańska-Droździel, Anna Wieczorkiewicz-Płaza, Iwona Beń-Skowronek, Przemysław Sikora
Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis. CASE REPORT: A 16-year-old patient was admitted to our Clinic because of his first-ever renal colic. The ultrasound examination revealed rightsided hydronephrosis caused by the presence of 9 mm stone in the upper part of the right ureter. In addition, the presence of 8 mm stone in the middle calyx of the left kidney was found...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
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