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https://www.readbyqxmd.com/read/28736296/a-new-targeted-cftr-mutation-panel-based-on-next-generation-sequencing-technology
#1
Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino, Valentina Giannone, Luisella Alberti, Sabina Maria Bruno, Carlo Corbetta, Erminio Torresani, Carla Colombo, Manuela Seia
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy. The large number of mutations and genetic and phenotypic variability make this search a complex task. Herein, we tested the clinical and laboratory validity of an extended search for mutations in CFTR using a next-generation sequencing-based method, with a panel of 188 CFTR mutations customized for the Italian population...
July 19, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#2
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28733637/c26-ceramide-as-highly-sensitive-biomarker-for-the-diagnosis-of-farber-disease
#3
Claudia Cozma, Marius-Ionuț Iurașcu, Sabrina Eichler, Marina Hovakimyan, Oliver Brandau, Susanne Zielke, Tobias Böttcher, Anne-Katrin Giese, Jan Lukas, Arndt Rolfs
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. The diagnostic aspects of FD are poorly developed due to the rarity of the disease...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28732160/color-encoded-assays-for-the-simultaneous-quantification-of-dual-cancer-biomarkers
#4
Jun Ma, Lei Zhan, Rong Sheng Li, Peng Fei Gao, Cheng Zhi Huang
For the first time, the scattering light of noble nanoparticles was applied for the simultaneous detection of dual cancer biomarkers. Two nanoprobes with dual scattering light colors were used for the simultaneous imaging of alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA) based on the sandwich-type immunoassay. Since AFP can combine anti-AFP-modified gold nanoparticles which have green scattering light under dark-field microscopic imaging (iDFM) technique while CEA can conjugate anti-CEA-immobilized silver nanoparticles which have blue scattering light, the simultaneous determination of AFP and CEA can be achieved by separately counting the number of green and blue light spots in iDFM technique...
July 21, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#5
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28726977/added-value-of-spect-spiral-ct-versus-spect-or-ct-alone-in-diagnosing-solitary-skeletal-lesions
#6
Yiqiu Zhang, Beilei Li, Hongcheng Shi, Haojun Yu, Yushen Gu, Yan Xiu
AIM: The aim of this study was to investigate the added value of SPECT/spiral CT versus SPECT or CT alone in the differential diagnosis of solitary skeletal lesions. METHODS: This was a retrospective study on a total of 69 patients who had a solitary skeletal "hot spot" that could not be definitively diagnosed using planar scintigraphy. Thus, SPECT/spiral CT was performed on the indeterminate lesions. SPECT, CT and SPECT/spiral CT images were independently interpreted by two experienced doctors who have both identification of CT and nuclear medicine...
July 20, 2017: Nuklearmedizin. Nuclear Medicine
https://www.readbyqxmd.com/read/28725571/application-of-a-diagnostic-methodology-by-quantification-of-26-0-lysophosphatidylcholine-in-dried-blood-spots-for-japanese-newborn-screening-of-x-linked-adrenoleukodystrophy
#7
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#8
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723214/electrokinetic-manipulation-integrated-plasmonic-photonic-hybrid-raman-nanosensors-with-dually-enhanced-sensitivity
#9
Chao Liu, Zheng Wang, Erwen Li, Zexi Liang, Swapnajit Chakravarty, Xiaochuan Xu, Alan X Wang, Ray T Chen, Donglei Fan
To detect biochemicals with ultrahigh sensitivity, efficiency, reproducibility, and specificity has been the holy grail in the development of nanosensors. In this work, we report an innovative type of photonic-plasmonic hybrid Raman nanosensor integrated with electrokinetic manipulation by rational design, which offers dual mechanisms that enhance the sensitivity for molecule detection directly in solution. For the first time, we integrate large arrays of synthesized plasmonic nanocapsules with densely surface distributed silver (Ag) nanoparticles (NPs) on lithographically patterned photonic crystal slabs via electric-field assembling...
March 24, 2017: ACS Sensors
https://www.readbyqxmd.com/read/28722568/epidemiology-of-spotted-fever-group-rickettsioses-and-acute-undifferentiated-febrile-illness-in-villeta-colombia
#10
Álvaro A Faccini-Martínez, Alejandro Ramírez-Hernández, Christian Barreto, Elkin Forero-Becerra, Diego Millán, Elkin Valbuena, Andrea C Sánchez-Alfonso, Wilson O Imbacuán-Pantoja, Jesús A Cortés-Vecino, Luis J Polo-Terán, Néstor Yaya-Lancheros, Jorge Jácome, Ana M Palomar, Sonia Santibáñez, Aránzazu Portillo, José A Oteo, Marylin Hidalgo
Etiology of acute undifferentiated febrile syndrome (AUFS) is often unknown, leading to inaccurate diagnosis and treatment. Villeta town has been identified as an endemic area for spotted fever group (SFG) rickettsioses but little is known about possible amplifier hosts and other Rickettsia species different from Rickettsia rickettsii. Besides, few studies have approached other AUFS etiologies in the region. We investigated the role of dengue, leptospirosis, rickettsioses, human anaplasmosis, and Q fever as possible causes of AUFS in patients from Villeta...
June 19, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28721667/molar-incisor-hypomineralisation-mih-training-manual-for-clinical-field-surveys-and-practice
#11
A Ghanim, M J Silva, M E C Elfrink, N A Lygidakis, R J Mariño, K L Weerheijm, D J Manton
BACKGROUND: Despite clear assessment criteria, studies of molar incisor hypomineralisation (MIH) and hypomineralised second primary molars (HSPM) are marked by inconsistency in outcome measurements. This has detracted from meaningful comparisons between studies and limited interpretation. AIM: To provide a comprehensive manual as a companion to assist researchers in planning epidemiological studies of MIH and HSPM, with particular reference to outcome measurement...
July 18, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#12
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28715460/early-infant-diagnosis-of-hiv-1-infection-in-luanda-angola-using-a-new-dna-pcr-assay-and-dried-blood-spots
#13
Francisco Martin, Claudia Palladino, Rita Mateus, Anna Bolzan, Perpétua Gomes, José Brito, Ana Patrícia Carvalho, Yolanda Cardoso, Cristovão Domingos, Vanda Sofia Lôa Clemente, Nuno Taveira
BACKGROUND: Early diagnosis and treatment reduces HIV-1-related mortality, morbidity and size of viral reservoirs in infants infected perinatally. Commercial molecular tests enable the early diagnosis of infection in infants but the high cost and low sensitivity with dried blood spots (DBS) limit their use in sub-Saharan Africa. OBJECTIVES: To develop and validate a sensitive and cheap qualitative proviral DNA PCR-based assay for early infant diagnosis (EID) in HIV-1-exposed infants using DBS samples...
2017: PloS One
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#14
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28711173/presymptomatic-diagnosis-of-spinal-muscular-atrophy-through-newborn-screening
#15
Yin-Hsiu Chien, Shu-Chuan Chiang, Wen-Chin Weng, Ni-Chung Lee, Ching-Jie Lin, Wu-Shiun Hsieh, Wang-Tso Lee, Yuh-Jyh Jong, Tsang-Ming Ko, Wuh-Liang Hwu
OBJECTIVE: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). STUDY DESIGN: We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the SMN1/SMN2 intron 7 c.888+100A/G polymorphism was performed to detect homozygous SMN1 deletion using dried blood spot (DBS) samples...
July 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28710204/bio-plex-immunoassay-measuring-the-quantity-of-lysosomal-n-acetylgalactosamine-6-sulfatase-protein-in-dried-blood-spots-for-the-screening-of-mucopolysaccharidosis-iva-in-newborn-a-pilot-study
#16
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, Sung-Fa Huang, Shuan-Pei Lin
OBJECTIVE: Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening. DESIGN: Newborn screening programme for MPS IVA pilot study...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28704040/uniaxially-stretched-flexible-surface-plasmon-resonance-film-for-versatile-surface-enhanced-raman-scattering-diagnostics
#17
Kaichen Xu, Zuyong Wang, Chuan Fu Tan, Ning Kang, Lianwei Chen, Lei Ren, Eng San Thian, Ghim Wei Ho, Rong Ji, Minghui Hong
Surface enhanced Raman scattering (SERS) spectroscopy affords a rapid, highly sensitive and non-destructive approach for label-free and finger-print diagnosis of a wide range of chemicals. It is of great significance to develop large-area, uniform and environmentally friendly SERS substrates for in-situ identification of analytes on complex topological surfaces. In this work, we demonstrate a biodegradable flexible SERS film via irreversibly and longitudinally stretching metal deposited biocompatible poly (ɛ-caprolactone) film...
July 13, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28701428/a-mercury-toxicity-case-complicated-by-hyponatremia-and-abnormal-endocrinological-test-results
#18
Matthew Carter, Abdul Abdi, Fareeha Naz, Farouq Thabet, Arpita Vyas
Mercury (Hg) poisoning is considered a rare disease by the National Institutes of Health and the diagnosis can present great challenges to clinicians. Children who are exposed to Hg can present with a wide variety of symptoms, including acrodynia, tremor, excessive salivation, and psychiatric symptoms, including insomnia. However, endocrinologic manifestations from Hg exposure are less well known. This is a case report of a 12-year-old boy who presented with body rash, irritability, insomnia, and profuse sweating after returning from a summer camp...
July 13, 2017: Pediatrics
https://www.readbyqxmd.com/read/28696172/multimodal-imaging-in-retinal-vasculitis
#19
Aniruddha Agarwal, Rubbia Afridi, Rupesh Agrawal, Diana V Do, Vishali Gupta, Quan Dong Nguyen
Retinal vasculitis presents with inflammation involving the retinal vasculature as an isolated disease or in combination with other ocular or systemic conditions. This entity may be associated with a wide variety of clinical manifestations such as vascular sheathing, cotton-wool spots, retinal ischemia, and neovascularization. Often, retinal vasculitis and its complications lead to diagnostic challenges in identifying the exact etiology of the inflammation. Ancillary investigations such as fundus photography, fluorescein angiography, and more recently, adaptive optics imaging and optical coherence tomography angiography, may provide valuable information that help in establishing the exact diagnosis and initiation of appropriate therapy...
June 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28693564/surveillance-of-recent-hiv-infections-among-newly-diagnosed-hiv-cases-in-germany-between-2008-and-2014
#20
Alexandra Hofmann, Andrea Hauser, Ruth Zimmermann, Claudia Santos-Hövener, Jörg Bätzing-Feigenbaum, Stephan Wildner, Claudia Kücherer, Norbert Bannert, Osamah Hamouda, Viviane Bremer, Barbara Bartmeyer
BACKGROUND: The HIV surveillance system in Germany is based on mandatory, anonymous notification of newly diagnosed HIV cases by laboratories. Because the time between HIV infection and the diagnosis of HIV varies widely between persons, it is difficult to determine the number of cases of recent HIV infection among newly diagnosed cases of HIV. In Germany, the BED-capture-enzyme immunoassay (BED-CEIA) has been used to distinguish between recent and long-standing HIV infection. The aim of this analysis is to report the proportion of cases of recent HIV infection among newly diagnosed cases in Germany between 2008 and 2014 and to identify factors associated with recent infections...
July 11, 2017: BMC Infectious Diseases
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