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https://www.readbyqxmd.com/read/28811699/cystinuria-crystals-that-make-a-baby-cry
#1
Dhiraj J Trivedi, Vijayetha P Patil, Pramod S Kamble
Cystinuria is a common aminoaciduria due to a COAL transporter defect in renal tubular epithelium. Increased level of cystine in urine with occasional cystine crystal can be diagnostic. With reference to clinical examinations, symptoms and laboratory reports we present a case of primary cystinuria. Prevention of complication in cystinuric relies on detection at early stage and targeting treatment towards maintaining low level of urinary cystine level.
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28810700/a-single-mini-barcode-test-to-screen-for-australian-mammalian-predators-from-environmental-samples
#2
Elodie Modave, Anna J MacDonald, Stephen D Sarre
Identification of species from trace samples is now possible through the comparison of diagnostic DNA fragments against reference DNA sequence databases. DNA detection of animals from non-invasive samples, such as predator faeces (scats) that contain traces of DNA from their species of origin, has proved to be a valuable tool for the management of elusive wildlife. However, application of this approach can be limited by the availability of appropriate genetic markers. Scat DNA is often degraded, meaning that longer DNA sequences, including standard DNA barcoding markers, are difficult to recover...
August 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28807680/patient-characteristics-and-cancer-prevalence-in-the-danish-cancer-patient-pathway-for-patients-with-serious-non-specific-symptoms-and-signs-of-cancer-a-nationwide-population-based-cohort-study
#3
E Moseholm, B Ø Lindhardt
BACKGROUND: A new cancer patient pathway for patients presenting with non-specific signs and symptoms (NSSC-CPP) was implemented nationally in Denmark in 2012. This study aims to describe, on a national level, the characteristics of patients referred to the Danish NSSC-CPP, and to estimate the prevalence and distribution of cancers and other diagnosis in this population. METHODS: A population-based cohort study using the Danish national registries, including all patients who completed a diagnostic course through the NSSC-CPP between 2012 and 2015...
August 11, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28798229/role-of-technetium-99m-methylene-diphosphonate-spect-ct-in-the-detection-of-sacroiliitis-in-patients-with-spondyloarthropathy-comparison-with-clinical-markers-and-mri
#4
Rahul V Parghane, Baljinder Singh, Aman Sharma, Harmandeep Singh, Paramjit Singh, Anish Bhattacharya
Rationale: To evaluate the role of (99m)Tc-MDP SPECT/CT for the detection of sacroiliitis in spondyloarthopathies (SpA) and comparison with clinical markers and MRI. Methods: A total of 155 diagnosed patients (83M : 72 F; mean age 35.80±12.40 years; range 18-60 years ) with SpA as per the European Spondyloarthropathy Study Group criteria (ESSG) criteria were prospectively included All the patients were subjected to clinical evaluation (using BASDAI scoring), ESR, CRP levels, planar (99m)Tc MDP bone scintigraphy, hybrid SPECT/CT and MRI of the pelvic region...
August 10, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/28795487/relation-of-oxygen-uptake-to-work-rate-in-prepubertal-healthy-children-reference-for-vo2-w-slope-and-effect-on-cardiorespiratory-fitness-assessment
#5
Tuomo Tompuri, Niina Lintu, Tomi Laitinen, Timo A Lakka
PURPOSE: Exercise testing by cycle ergometer allows to observe the interaction between oxygen uptake (VO2 ) and workload (W), and VO2 /W-slope can be used as a diagnostic tool. Respectively, peak oxygen uptake (VO2PEAK ) can be estimated by maximal workload. We aim to determine reference for VO2 /W-slope among prepubertal children and define agreement between estimated and measured VO2PEAK . METHODS: A total of 38 prepubertal children (20 girls) performed a maximal cycle ergometer test with respiratory gas analysis...
August 9, 2017: Clinical Physiology and Functional Imaging
https://www.readbyqxmd.com/read/28791850/the-contribution-of-clinical-assessments-to-the-diagnostic-algorithm-of-pulmonary-embolism
#6
Onur Turan, Deniz Turgut, Turkan Gunay, Erkan Yilmaz, Ayse Turan, Atila Akkoclu
BACKGROUND: Pulmonary thromboembolism (PE) is a major disease in respiratory emergencies. Thoracic CT angiography (CTA) is an important method of visualizing PE. Because of the high radiation and contrast exposure, the method should be performed selectively in patients in whom PE is suspected. OBJECTIVES: The aim of the study was to identify the role of clinical scoring systems utilizing CTA results to diagnose PE. MATERIAL AND METHODS: The study investigated 196 patients referred to the hospital emergency service in whom PE was suspected and CTA performed...
March 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28791818/combined-screening-for-early-and-late-pre-eclampsia-and-intrauterine-growth-restriction-by-maternal-history-uterine-artery-doppler-mean-arterial-pressure-and-biochemical-markers
#7
Ewelina Litwińska, Magdalena Litwińska, Przemysław Oszukowski, Krzysztof Szaflik, Piotr Kaczmarek
BACKGROUND: Pre-eclampsia is a systemic disease connected with high maternal and fetal morbidity and mortality. Despite significant progress achieved in perinatal medicine, pre-eclampsia is still one of the most significant current problems in obstetrics. OBJECTIVES: The aim of the study was to establish diagnostic algorithms for early and late pre-eclampsia (PE) and intrauterine growth restriction (IUGR). MATERIAL AND METHODS: A total of 320 pregnant women between 11 + 0 and 13 + 6 weeks of gestation were recruited for a case-control study...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790096/paraneoplastic-cerebellar-degeneration-secondary-to-ovarian-carcinosarcoma-a-cerebellar-conundrum
#8
Julian David Birch, Arup Sen, Katherine Rowland, Tatyana Viner
We present a case of an elderly female patient who presented with a 6-month history of progressive slurred speech, vertigo, unsteadiness and falls. She underwent an extensive battery of neurological and cardiovascular investigations, none of which demonstrated a diagnostic cause for her symptoms. She was referred to the stroke and neurology teams and was started on treatment for presumed anxiety. As her symptoms continued to progress, she was referred to the falls service. Following a multidisciplinary team discussion, she was reviewed by the consultant geriatrician who felt this may be due to a malignancy so the consultant geriatrician arranged blood testsand CT scan of her chest, abdomen and pelvis...
August 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28789933/radiation-protection-in-dental-radiology-recent-advances-and-future-directions
#9
V Tsapaki
Dental radiology uses X-ray technology to diagnose and design treatment of various clinical problems related to the oral cavity and surrounding tissues. As technology quickly evolves, there are numerous X-ray modalities using different tools in the attempt to best image and treat efficiently these diseases, disorders or other related clinical conditions. The reported numbers of dental X-rays, the fact that these may be under-reported in many countries and because dental X-rays are performed more on younger individuals, whose teeth and dentition are still developing, calls for increased need on radiation protection...
August 5, 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28781756/tiddit-an-efficient-and-comprehensive-structural-variant-caller-for-massive-parallel-sequencing-data
#10
Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand
Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) is a technology that may be used to identify a large proportion of the genomic structural variants (SVs) in an individual in a single experiment. Even though SV callers have been extensively used in research to detect mutations, the potential usage of SV callers within routine clinical diagnostics is hindered by high computational costs, usage of non-standard output format, and limited support for the various sequencing platforms and libraries...
2017: F1000Research
https://www.readbyqxmd.com/read/28780202/tailor-made-ge-doped-silica-glass-for-clinical-diagnostic-x-ray-dosimetry
#11
Amjad Alyahyawi, T Jupp, M Alkhorayef, D A Bradley
In the modern clinical practice of diagnostic radiology there is a growing demand for radiation dosimetry, it also being recognized that with increasing use of X-ray examinations additional population dose will result, accompanied by an additional albeit low potential for genetic consequences. At the doses typical of diagnostic radiology there is also a low statistical risk for cancer induction; in adhering to best practice, to be also implied is a low but non-negligible potential for deterministic sensitive organ responses, including in regard to the skin and eyes...
July 22, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28774351/cross-disorder-cognitive-impairments-in-youth-referred-for-neuropsychiatric-evaluation
#12
Alysa E Doyle, Pieter J Vuijk, Nathan D Doty, Lauren M McGrath, Brian L Willoughby, Ellen H O'Donnell, H Kent Wilson, Mary K Colvin, Deanna C Toner, Kelsey E Hudson, Jessica E Blais, Hillary L Ditmars, Stephen V Faraone, Larry J Seidman, Ellen B Braaten
OBJECTIVES: Studies suggest that impairments in some of the same domains of cognition occur in different neuropsychiatric conditions, including those known to share genetic liability. Yet, direct, multi-disorder cognitive comparisons are limited, and it remains unclear whether overlapping deficits are due to comorbidity. We aimed to extend the literature by examining cognition across different neuropsychiatric conditions and addressing comorbidity. METHODS: Subjects were 486 youth consecutively referred for neuropsychiatric evaluation and enrolled in the Longitudinal Study of Genetic Influences on Cognition...
August 4, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28770012/discovery-of-rare-diagnostic-aluyb8-9-elements-in-diverse-human-populations
#13
Julie Feusier, David J Witherspoon, W Scott Watkins, Clément Goubert, Thomas A Sasani, Lynn B Jorde
BACKGROUND: Polymorphic human Alu elements are excellent tools for assessing population structure, and new retrotransposition events can contribute to disease. Next-generation sequencing has greatly increased the potential to discover Alu elements in human populations, and various sequencing and bioinformatics methods have been designed to tackle the problem of detecting these highly repetitive elements. However, current techniques for Alu discovery may miss rare, polymorphic Alu elements...
2017: Mobile DNA
https://www.readbyqxmd.com/read/28766503/could-biochemistry-lab-alert-for-low-alkaline-phosphatase-prompt-diagnosis-of-hypophosphatasia
#14
Asma Deeb, Elfatih Abubaker
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level by laboratory and the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28764792/deployment-and-use-of-mobile-phone-technology-for-real-time-reporting-of-fever-cases-and-malaria-treatment-failure-in-areas-of-declining-malaria-transmission-in-muheza-district-north-eastern-tanzania
#15
Filbert Francis, Deus S Ishengoma, Bruno P Mmbando, Acleus S M Rutta, Mwelecele N Malecela, Benjamin Mayala, Martha M Lemnge, Edwin Michael
BACKGROUND: Early detection of febrile illnesses at community level is essential for improved malaria case management and control. Currently, mobile phone-based technology has been commonly used to collect and transfer health information and services in different settings. This study assessed the applicability of mobile phone-based technology in real-time reporting of fever cases and management of malaria by village health workers (VHWs) in north-eastern Tanzania. METHODS: The community mobile phone-based disease surveillance and treatment for malaria (ComDSTM) platform, combined with mobile phones and web applications, was developed and implemented in three villages and one dispensary in Muheza district from November 2013 to October 2014...
August 1, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28764513/note-diagnostic-deuterium-beam-with-an-ultra-small-energy-spread-for-plasma-spectroscopy
#16
V Ya Savkin, A A Lizunov
The DINA-5M diagnostic atomic beam has been upgraded to reduce the energy spread down to 50 eV. An active voltage stabilization system introduces a chain of varistors connected in series that can be switched with the time constant of 70 μs to minimize the deviation from the reference to the high-voltage level. Using deuterium, the enhanced diagnostic beam has the current of four atomic amperes and the energy of 50 keV ± 50 eV. The primary considered application is a motional Stark effect diagnostic combined with laser-induced fluorescence, where the beam energy spread is an ultimate parameter determining the measurement performance...
July 2017: Review of Scientific Instruments
https://www.readbyqxmd.com/read/28762498/accuracy-of-on-site-tests-to-detect-anemia-during-prenatal-care
#17
REVIEW
Soha Sobhy, Ewelina Rogozinska, Khalid S Khan
BACKGROUND: Anemia is a substantial contributor to poor pregnancy outcomes in low- and middle-income countries. Access to laboratory facilities is limited; therefore, on-site testing warrants attention. OBJECTIVES: To determine the accuracy of on-site tests to detect anemia in pregnancy. SEARCH STRATEGY: MEDLINE, Embase, Scopus, CINAHL, and Web of Science were searched from inception until March 2016, with no language restrictions, using the terms "pregnancy," "an(a)emia," and "h(a)emoglobin...
August 1, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28761671/predictors-and-clinical-implication-of-high-sensitivity-cardiac-troponin-i-elevation-following-diagnostic-cardiac-catheterisations
#18
Rikuta Hamaya, Taishi Yonetsu, Tadashi Murai, Yoshihisa Kanaji, Eisuke Usui, Junji Matsuda, Masahiro Hoshino, Makoto Araki, Masahiro Hada, Takayuki Niida, Sadamitsu Ichijo, Yoshinori Kanno, Tsunekazu Kakuta
OBJECTIVES: Although diagnostic coronary angiography (CAG) is performed worldwide, procedure-related myocardial necrosis (PMN) following diagnostic catheter-based procedures has not been well investigated. The aim of this study was to determine clinical and procedural factors associated with PMN, using a high-sensitivity cardiac troponin I (hs-cTnI) assay, and to investigate the clinical implications of PMN. METHODS: Among 697 patients undergoing elective CAG and pre- and post-procedural hs-cTnI (pre-TnI, post-TnI, respectively) measurements, a total of 538 patients (124 female) were evaluated, with 2...
2017: Open Heart
https://www.readbyqxmd.com/read/28760354/t2-mr-imaging-vs-computational-modeling-of-human-articular-cartilage-tissue-functionality
#19
Kevin Linka, Mikhail Itskov, Daniel Truhn, Sven Nebelung, Johannes Thüring
The detection of early stages of cartilage degeneration remains diagnostically challenging. One promising non-invasive approach is to functionally assess the tissue response to loading by serial magnetic resonance (MR) imaging in terms of T2 mapping under simultaneous mechanical loading. As yet, however, it is not clear which cartilage component contributes to the tissue functionality as assessed by quantitative T2 mapping. To this end, quantitative T2 maps of histologically intact cartilage samples (n=8) were generated using a clinical 3...
July 19, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28758153/cell-plasma-membrane-cholesterol-as-a-diagnostic
#20
Li Li, Binyu Lu, Dechen Jiang, Minchul Shin, Thomas Kelley, James D Burgess
Cholesterol is a tightly regulated major structural component of the cell plasma membrane (PM) where it forms stoichiometric complexes with phospholipids and sphingolipids. The amount of cholesterol in the PM exhibits a regulatory role in basal activity of several biomolecular processes by direct binding to proteins and by indirect local environmental effects within the PM that are also coupled to overall cellular cholesterol homeostasis. The term "active cholesterol" refers to PM cholesterol not complexed to lipids, a cholesterol state that arises above a threshold mole fraction of cholesterol in the PM...
April 2017: Curr Opin Electrochem
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