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https://www.readbyqxmd.com/read/29444371/whole-exome-sequencing-for-diagnosis-of-hereditary-ichthyosis
#1
J C Sitek, M A Kulseth, K B Rypdal, T Skodje, Y Sheng, L Retterstøl
BACKGROUND: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. OBJECTIVE: We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic work-up of inherited ichthyosis. METHODS: During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation...
February 14, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29444155/conjunctival-melanocytic-naevus-diagnostic-value-of-anterior-segment-optical-coherence-tomography-and-ultrasound-biomicroscopy
#2
Eszter Vizvári, Ákos Skribek, Nóra Polgár, András Vörös, Pál Sziklai, Edit Tóth-Molnár
PURPOSE: Conjunctival naevi are the most frequently diagnosed primary melanocytic lesions of the conjunctiva. The clinical manifestations are greatly variable which may result in diagnostic difficulties and differential diagnostic confusions. Therefore aims of the present study were: 1) to assess the morphologic features of conjunctival naevi; 2) to delineate the anterior segment optical coherence tomography (AS-OCT) characteristics of these lesions; 3) to compare AS-OCT and ultrasound biomicroscopy (UBM) as diagnostic tools in these alterations and 4) to correlate histological results with the AS-OCT pictures in case of surgically excised naevi...
2018: PloS One
https://www.readbyqxmd.com/read/29444148/development-of-a-recombinase-polymerase-amplification-assay-for-rapid-detection-of-francisella-noatunensis-subsp-orientalis
#3
Khalid Shahin, Jose Gustavo Ramirez-Paredes, Graham Harold, Benjamin Lopez-Jimena, Alexandra Adams, Manfred Weidmann
Francisella noatunensis subsp. orientalis (Fno) is the causative agent of piscine francisellosis in warm water fish including tilapia. The disease induces chronic granulomatous inflammation with high morbidity and can result in high mortality. Early and accurate detection of Fno is crucial to set appropriate outbreak control measures in tilapia farms. Laboratory detection of Fno mainly depends on bacterial culture and molecular techniques. Recombinase polymerase amplification (RPA) is a novel isothermal technology that has been widely used for the molecular diagnosis of various infectious diseases...
2018: PloS One
https://www.readbyqxmd.com/read/29444034/label-free-cell-nuclear-imaging-by-gr%C3%A3-neisen-relaxation-photoacoustic-microscopy
#4
Xiaowei Liu, Terence T W Wong, Junhui Shi, Jun Ma, Qing Yang, Lihong V Wang
Photoacoustic microscopy (PAM) with ultraviolet (UV) laser illumination has recently been demonstrated as a promising tool that provides fast, label-free, and multilayered histologic imaging of human breast tissue. Thus far, the axial resolution has been determined ultrasonically. To enable optically defined axial resolution, we exploit the Grüneisen relaxation (GR) effect. By imaging mouse brain slices, we show that GRUV-PAM reveals detailed information about three-dimensional cell nuclear distributions and internal structures, which are important diagnostic features for cancers...
February 15, 2018: Optics Letters
https://www.readbyqxmd.com/read/29443429/electronic-circular-dichroism-for-the-detection-of-microalbuminuria
#5
Lucie Habartová, Hana Logerová, Lukáš Tomaník, Aneta Marešová, Vladimír Setnička
Over the past decades, chiroptical spectroscopy has proved its incomparable ability to elucidate the structure and spatial arrangement of chiral molecules. Systematic analysis of biomolecules in the natural environment of biofluids, however, remains challenging. In this study, we used chiroptical spectroscopy to monitor urinary levels of human serum albumin. Not only severe proteinuria but even just a slightly increased urinary excretion of albumin (microalbuminuria) may indicate serious health complications, especially for diabetic individuals...
February 14, 2018: Chirality
https://www.readbyqxmd.com/read/29443424/ccl23-is-a-promising-biomarker-of-injury-in-patients-with-ischemic-stroke
#6
Aldo Bonaventura, Fabrizio Montecucco
Pathophysiological evidences on ischemic stroke (IS) indicate a critical involvement of post-ischemic inflammation in determining neuronal injury. In last decades, several inflammatory molecules have been investigated as potential diagnostic and/or prognostic tools. At present, however, no specific pathophysiological factor has been identified for being recommended in the clinical management of the disease. This article is protected by copyright. All rights reserved.
February 14, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29443088/simultaneous-video-eeg-ecg-monitoring-to-identify-neurocardiac-dysfunction-in-mouse-models-of-epilepsy
#7
Vikas Mishra, Nicole M Gautier, Edward Glasscock
In epilepsy, seizures can evoke cardiac rhythm disturbances such as heart rate changes, conduction blocks, asystoles, and arrhythmias, which can potentially increase risk of sudden unexpected death in epilepsy (SUDEP). Electroencephalography (EEG) and electrocardiography (ECG) are widely used clinical diagnostic tools to monitor for abnormal brain and cardiac rhythms in patients. Here, a technique to simultaneously record video, EEG, and ECG in mice to measure behavior, brain, and cardiac activities, respectively, is described...
January 29, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29442706/human-adipose-derived-stem-cells-and-osteoblasts-interaction-with-fe-cr-nb-b-magnetic-nanoparticles
#8
Luminita Simion Labusca, Dumitru-Daniel Herea, Ecaterina Radu, Camelia Danceanu, Horia Chiriac, Nicoleta Lupu
The use of materials at nanoscale is currently of increasing interest for life sciences and medicine. Magnetic nanoparticles (MNPs) are under scrutiny for a large array of applications in nanomedicine as diagnostic and therapeutic tools. Proprietary Fe-Cr-Nb-B MNPs display heating properties that recommends them as potent agents for delivery of local hyperthermia for the treatment of solid tumours. Stem cell mediated delivery represents a safe and accurate modality to target remote or metastatic tumour sites...
July 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29442348/quantitation-in-dextrocardia-on-myocardial-perfusion-imaging-how-to-perform-quantitative-analysis-using-cedars-sinai-software
#9
Mohsen Qutbi, Mehdi Soltanshahi, Mojtaba Ansari, Hoda Hashemi, Isa Neshandar Asli, Babak Shafiei
Dextrocardia, although a rare cardiac abnormality, carries the same risk for cardiac events as other people. SPECT Myocardial perfusion imaging is a potentially helpful diagnostic tool in patients with dextrocardia. Because of swapping of lateral and septal walls on SPECT slices, although visual analysis is possible, quantitation is substantially limited. Here, we introduce a simple practical method to make quantitative analysis feasible and accurate.
2018: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/29442164/diagnostic-flexible-pharyngo-laryngoscopy-development-of-a-procedure-specific-assessment-tool-using-a-delphi-methodology
#10
Jacob Melchiors, Mikael Johannes Vuokko Henriksen, Frederik G Dikkers, Javier Gavilán, J Pieter Noordzij, Marvin P Fried, Daniel Novakovic, Johannes Fagan, Birgitte W Charabi, Lars Konge, Christian von Buchwald
PURPOSE: Proper training and assessment of skill in flexible pharyngo-laryngoscopy are central in the education of otorhinolaryngologists. To facilitate an evidence-based approach to curriculum development in this field, a structured analysis of what constitutes flexible pharyngo-laryngoscopy is necessary. Our aim was to develop an assessment tool based on this analysis. METHODS: We conducted an international Delphi study involving experts from twelve countries in five continents...
February 13, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29441814/analysis-of-gastric-myoelectrical-activity-from-the-electrogastrogram-signals-based-on-wavelet-transform-and-line-length-feature
#11
Abdullah Al Kafee, Aydin Akan
Electrogastrogram is used for the abdominal surface measurement of the gastric electrical activity of the human stomach. The electrogastrogram technique has significant value as a clinical tool because careful electrogastrogram signal recordings and analyses play a major role in determining the propagation and coordination of gastric myoelectric abnormalities. The aim of this article is to evaluate electrogastrogram features calculated by line length features based on the discrete wavelet transform method to differentiate healthy control subjects from patients with functional dyspepsia and diabetic gastroparesis...
February 1, 2018: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/29441794/biophysical-properties-of-extracellular-vesicles-in-diagnostics
#12
Lucia Paolini, Andrea Zendrini, Annalisa Radeghieri
Extracellular vesicles (EVs) are cell-derived nanoparticles, involved in cell-to-cell communication, in both normal and pathological processes. Originating by the outward budding of the plasma membrane or released by exocytosis, they are natural cargoes for lipids, carbohydrates, proteins and nucleic acids. EV-based diagnostics promises unique advantages compared with conventional strategies involving whole body fluid analysis, including the reduction of biofluids complexity and more specific and sensitive detection of low abundance biomacromolecules...
February 14, 2018: Biomarkers in Medicine
https://www.readbyqxmd.com/read/29441529/toward-a-diagnostic-toolkit-for-linear-models-with-gaussian-process-distributed-random-effects
#13
Maitreyee Bose, James S Hodges, Sudipto Banerjee
Gaussian processes (GPs) are widely used as distributions of random effects in linear mixed models, which are fit using the restricted likelihood or the closely related Bayesian analysis. This article addresses two problems. First, we propose tools for understanding how data determine estimates in these models, using a spectral basis approximation to the GP under which the restricted likelihood is formally identical to the likelihood for a gamma-errors GLM with identity link. Second, to examine the data's support for a covariate and to understand how adding that covariate moves variation in the outcome y out of the GP and error parts of the fit, we apply a linear-model diagnostic, the added variable plot (AVP), both to the original observations and to projections of the data onto the spectral basis functions...
February 13, 2018: Biometrics
https://www.readbyqxmd.com/read/29441292/dermoscopic-features-of-distal-lateral-subungual-onychomycosis
#14
Thansiha Nargis, Malcolm Pinto, Manjunath Mala Shenoy, Spandana Hegde
Background: Onychomycosis is a very common disease and accounts for upto 50% of the diseases affecting the nail apparatus. Diagnosis of onychomycosis is usually confirmed with the help of a potassium hydroxide (KOH) mount and fungal culture. Onychoscopy can be a handy and additional tool for the diagnosis. Aims and Objectives: To determine the dermoscopic findings in distal lateral subungual onychomycosis (DLSO). Materials and Methods: A prospective study of 60 nails with a clinical and mycological diagnosis (KOH with Chicago sky blue positive) of DLSO...
January 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29440880/comparison-of-three-tools-for-predicting-primary-osteoporosis-in-an-elderly-male-population-in-beijing-a-cross-sectional-study
#15
XiaoDong Zhang, JiSheng Lin, Yong Yang, Hao Wu, Yongjin Li, Xiuquan Yang, Qi Fei
Purpose: In this cross-sectional study, three clinical tools, the Osteoporosis Self-Assessment Tool for Asians (OSTA), Fracture Risk Assessment Tool (FRAX) without bone mineral density (BMD), and body mass index (BMI), for predicting primary osteoporosis (OP) were compared and ideal thresholds for omission of screening BMD were proposed in a community-dwelling elderly Han Beijing male population. Patients and methods: A total of 1,349 community-dwelling elderly Han Beijing males aged ≥50 years were enrolled in this study...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29440860/three-cases-of-radiation-induced-temporary-alopecia-with-hair-microscopic-examination-coudability-hair-might-not-be-specific-for-alopecia-areata
#16
Jung Eun Seol, Do Hyeong Kim, So Hee Park, Gyeong Je Cho, Hyojin Kim
Endovascular interventional procedures are widely used for the treatment of intracranial vascular lesions. However, they sometimes produce reversible alopecia, known as radiation-induced temporary alopecia, depending on the radiation dose. Radiation-induced temporary alopecia manifested as rectangular alopecic patches without signs of inflammation, reflects damage to the keratinocytes in the hair matrix of anagen hair follicles, due to the sensitivity of these cells to radiation. The characteristics of radiation-induced temporary alopecia are similar to those of alopecia areata as follows: (1) clinical findings of well-defined alopecic patches and (2) dermoscopic findings of yellow dots, black dots, and short vellus hairs...
January 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29440241/-if-there-were-water-we-should-stop-and-drink-neurofibromatosis-presenting-with-diabetes-insipidus
#17
Rachel Barry, Antoinette O' Connor, Mohn Hazriq Awang, Orna O' Toole
A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin...
February 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29440209/to-what-extent-do-hospitalised-patients-receive-appropriate-ct-and-mri-scans-results-of-a-cross-sectional-study-in-southern-italy
#18
Aida Bianco, Rossella Zucco, Francesca Lotito, Maria Pavia
OBJECTIVES: The aim of this study was to assess the frequency of appropriateness of inpatient CT and MRI scans performed in Southern Italy. METHODS: The study was carried out by retrospectively reviewing medical records of adult patients admitted between 1 January and 31 December 2012 in two hospitals. The evaluation of appropriateness was performed according to the American College of Radiology Appropriateness Criteria, which assigns a score between 1 and 9. RESULTS: Eight hundred and fifty-three medical records were reviewed...
February 12, 2018: BMJ Open
https://www.readbyqxmd.com/read/29440161/clinician-patient-and-general-public-beliefs-about-diagnostic-imaging-for-low-back-pain-protocol-for-a-qualitative-evidence-synthesis
#19
Adrian C Traeger, Benjamin J Reed, Denise A O'Connor, Tammy C Hoffmann, Gustavo C Machado, Carissa Bonner, Chris G Maher, Rachelle Buchbinder
INTRODUCTION: Little is known about how to reduce unnecessary imaging for low back pain. Understanding clinician, patient and general public beliefs about imaging is critical to developing strategies to reduce overuse. OBJECTIVE: To synthesise qualitative research that has explored clinician, patient or general public beliefs about diagnostic imaging for low back pain. METHODS AND ANALYSIS: We will perform a qualitative evidence synthesis of relevant qualitative research exploring clinician, patient and general public beliefs about diagnostic imaging for low back pain...
February 10, 2018: BMJ Open
https://www.readbyqxmd.com/read/29440152/protocol-for-validation-of-the-4at-a-rapid-screening-tool-for-delirium-a-multicentre-prospective-diagnostic-test-accuracy-study
#20
Susan D Shenkin, Christopher Fox, Mary Godfrey, Najma Siddiqi, Steve Goodacre, John Young, Atul Anand, Alasdair Gray, Joel Smith, Tracy Ryan, Janet Hanley, Allan MacRaild, Jill Steven, Polly L Black, Julia Boyd, Christopher J Weir, Alasdair Mj MacLullich
INTRODUCTION: Delirium is a severe neuropsychiatric syndrome of rapid onset, commonly precipitated by acute illness. It is common in older people in the emergency department (ED) and acute hospital, but greatly under-recognised in these and other settings. Delirium and other forms of cognitive impairment, particularly dementia, commonly coexist. There is a need for a rapid delirium screening tool that can be administered by a range of professional-level healthcare staff to patients with sensory or functional impairments in a busy clinical environment, which also incorporates general cognitive assessment...
February 10, 2018: BMJ Open
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