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https://www.readbyqxmd.com/read/28930006/fatal-rocky-mountain-spotted-fever-along-the-united-states-mexico-border-2013-2016
#1
Naomi A Drexler, Hayley Yaglom, Mariana Casal, Maria Fierro, Paula Kriner, Brian Murphy, Anne Kjemtrup, Christopher D Paddock
Rocky Mountain spotted fever (RMSF) is an emerging public health concern near the US-Mexico border, where it has resulted in thousands of cases and hundreds of deaths in the past decade. We identified 4 patients who had acquired RMSF in northern Mexico and subsequently died at US healthcare facilities. Two patients sought care in Mexico before being admitted to US-based hospitals. All patients initially had several nonspecific signs and symptoms, including fever, headache, nausea, vomiting, or myalgia, but deteriorated rapidly without receipt of a tetracycline-class antimicrobial drug...
October 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#2
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28928103/pancreatic-metastasis-from-non-small-cell-lung-cancer-diagnosed-using-endoscopic-ultrasound-guided-fine-needle-aspiration-biopsy-a-case-report
#3
Nobuyasu Kurihara, Hajime Saito, Hiroshi Nanjo, Hayato Konno, Yoshihiro Minamiya
A 56-year-old man presented with a chest computed tomography (CT) finding of a right upper lobe nodule, which was diagnosed using brush cytology as adenocarcinoma stage IB (cT2aN0M0). Repeat CT scan for preoperative evaluation revealed a small, slightly hypodense spot in the pancreatic body, which was diagnosed as pancreatic metastasis from lung cancer using endoscopic ultrasound-guided fine needle aspiration biopsy (EUS-FNAB). Because of the presence of distant metastasis, surgical resection was deferred and chemotherapy was chosen instead...
September 19, 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#4
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28912992/giant-conjunctival-nevus-in-a-12-year-old-child
#5
Edit Tóth-Molnár, Eszter Vizvári, Ákos Skribek, András Vörös
We describe a case of a giant conjunctival nevus presented in a 12-year-old girl with suspicious clinicomorphological appearance. The lesion was noticed by the parents at the age of 3 years as a "fleshy spot" on the bulbar conjunctiva. The lesion remained unchanged until approx. 6 months before recent admission. On slit-lamp examination, a large conjunctival lesion with variegate pigmentation and indistinct margins was detected on the superonasal part of the bulbar conjunctiva of the left eye. Intralesional cysts and vessels were detected with AS-OCT examination...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/28902680/multicountry-validation-of-samba-a-novel-molecular-point-of-care-test-for-hiv-1-detection-in-resource-limited-setting
#6
Johnson Ondiek, Zikulah Namukaya, Sekesai Mtapuri-Zinyowera, Suna Balkan, Ali Elbireer, Ines Ushiro Lumb, Charles Kiyaga, Neha Goel, Allyson Ritchie, Patience Ncube, Kenneth Omuomu, Kenneth Ndiege, Adeodata Kekitiinwa, Douglas Mangwanya, Mary G Fowler, Lou Nadala, Helen Lee
INTRODUCTION: Early diagnosis of HIV-1 infection and the prompt initiation of antiretroviral therapy are critical to achieving a reduction in the morbidity and mortality of infected infants. The Simple AMplification-Based Assay (SAMBA) HIV-1 Qual Whole Blood Test was developed specifically for early infant diagnosis and prevention of mother-to-child transmission programs implemented at the point-of-care in resource-limited settings. METHODS: We have evaluated the performance of this test run on the SAMBA I semiautomated platform with fresh whole blood specimens collected from 202 adults and 745 infants in Kenya, Uganda, and Zimbabwe...
October 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28900525/a-case-of-legionella-pneumophila-evaluated-with-ct-and-ultrasound
#7
Alessio D'Angelo, Chiara De Simone, Marco Pagnottella, Stefano Rossi, Raffaele Pepe, Giacomo Ruggieri, Giulio Cocco, Cosima Schiavone
A 36-year-old man was admitted to the emergency department of "SS Annunziata" hospital in Chieti complaining of a sharp chest pain arisen some hours before admission. On examination, the patient looked sweaty; his vital signs showed tachycardia and augmented breath rate; sinus tachycardia and normal ventricular repolarization were observed on ECG, and no abnormalities were observed in the echoscan of the hearth. According to the clinical and electrocardiographic findings, and to previous episode of DVT in anamnesis, a thorax CT scan was performed in order to rule out pulmonary embolism...
September 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28899740/histone-3-3-mutations-in-giant-cell-tumor-and-giant-cell-rich-sarcomas-of-bone
#8
Alberto Righi, Irene Mancini, Marco Gambarotti, Piero Picci, Gabriella Gamberi, Cristina Marraccini, Angelo Paolo Dei Tos, Lisa Simi, Pamela Pinzani, Alessandro Franchi
Mutually exclusive histone 3.3 gene mutations have been recognized in chondroblastoma and giant cell tumor of bone (GCTB), which may be useful for differential diagnostic purposes in morphologically ambiguous cases. While over 90% of GCTB presents histone 3.3 variants exclusively in the H3F3A gene, chondroblastoma is mutated mainly in H3F3B. In this study we examined a series of giant cell rich primary bone tumors, aiming to evaluate the possible diagnostic role of histone 3.3 mutations in the differential diagnosis between GCTB and giant cell rich sarcomas...
September 9, 2017: Human Pathology
https://www.readbyqxmd.com/read/28899594/delayed-detection-of-spontaneous-bilateral-tubal-ectopic-pregnancies-after-methotrexate-treatment
#9
Nicole E Brown, Shereen A Singer, Joe Suyama
BACKGROUND: Bilateral tubal ectopic pregnancies are a rare subset of ectopic pregnancy that can pose a diagnostic dilemma for clinicians. There is no distinct clinical presentation for bilateral tubal ectopic pregnancies, although they are typically associated with assistive reproductive techniques. In addition, there is no single diagnostic feature to help clinicians delineate bilateral tubal ectopic pregnancies from other types of ectopic pregnancy prior to passing the discriminatory zone (such as heterotopic pregnancy or twin ectopic [two gestational sacs in one tube])...
September 9, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28895422/the-value-of-gd-bopta-enhanced-mris-and-dwi-in-the-diagnosis-of-intrahepatic-mass-forming-cholangiocarcinoma
#10
C C Xu, Y F Tang, X Z Ruan, Q L Huang, L Sun, J Li
The aim of this study is to explore the value of unenhanced magnetic resonance imaging (MRI), gadobenate dimeglumine injection (Gd-BOPTA)-enhanced MRI and diffusion-weighted imaging (DWI) in the diagnosis of intrahepatic mass-forming cholangiocarcinoma (IMCC). Totally 59 IMCC patients who underwent Gd-BOPTA-enhanced MRIs were recruited. The time-signal intensity curves and lesion periphery enhancement rates of the IMCC and liver parenchyma was drawn using apparent diffusion coefficient (ADC) values. The Gd-BOPTA-enhanced MRI showed that the peripheries of 30 lesions in the arterial phase exhibited irregular ring enhancement...
September 12, 2017: Neoplasma
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#11
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28890726/next-generation-sequencing-aided-rapid-molecular-diagnosis-of-occult-macular-dystrophy-in-a-chinese-family
#12
Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ge-Zhi Xu
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28888846/diagnostic-accuracy-of-urinary-lte4-measurement-to-predict-aspirin-exacerbated-respiratory-disease-in-patients-with-asthma
#13
Grazyna Bochenek, Tomasz Stachura, Krystyna Szafraniec, Hanna Plutecka, Marek Sanak, Ewa Nizankowska-Mogilnicka, Krzysztof Sladek
BACKGROUND: Patients with aspirin-exacerbated respiratory disease (AERD) are distinguished from patients with aspirin-tolerant asthma (ATA) by significantly higher baseline concentrations of urinary leukotriene E4 (uLTE4). However, an overlap between the individual values of the groups exists. OBJECTIVE: The objective of this study was to estimate the discriminative value of uLTE4 concentration in differentiating between patients with AERD and patients with ATA and evaluate the diagnostic accuracy of uLTE4 measurement alone and added to clinical parameters to predict AERD diagnosis in patients with asthma...
September 6, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28887783/a-novel-integration-of-spectral-domain-optical-coherence-tomography-and-laser-ablation-system-for-precision-treatment
#14
Yingwei Fan, Boyu Zhang, Wei Chang, Xinran Zhang, Hongen Liao
PURPOSE: Complete resection of diseased lesions reduces the recurrence of cancer, making it critical for surgical treatment. However, precisely resecting residual tumors is a challenge during operation. A novel integrated spectral-domain optical-coherence-tomography (SD-OCT) and laser-ablation therapy system for soft-biological-tissue resection is proposed. This is a prototype optical integrated diagnosis and therapeutic system as well as an optical theranostics system. METHODS: We develop an optical theranostics system, which integrates SD-OCT, a laser-ablation unit, and an automatic scanning platform...
September 9, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/28886455/development-of-an-electrochemical-immunosensor-for-the-diagnostic-testing-of-spotted-fever-using-synthetic-peptides
#15
Isis C Prado, Mônica E T A Chino, Antonia L Dos Santos, André L A Souza, Luciano G Pinho, Elba R S Lemos, Salvatore G De-Simone
Spotted fever is a rare acute and multisystemic febrile infectious disease with a mortality rate of ≥50% without adequate antibiotic treatment, and in diagnosed and treated cases, of approximately 2.5%. Currently, the applied test to diagnose this disease is the indirect immunofluorescence reaction, however two samples of paired sera are necessary to confirm the diagnosis, since using only one sample may allow for confusion with cross reactions. OmpA is an outer membrane protein present in the R. rickettsia, the etiological agent of spotted fever, able to activate dendritic and macrophage cells...
August 16, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28883009/total-knee-prosthesis-infected-with-mycobacterium-tuberculosis
#16
Fatehi E Elzein, Mohammed Haris, Saad S Alolayan, Nisreen Al Sherbini
Mycobacterium tuberculosis (MTB) infection of a prosthetic joint is rarely reported in developed countries.(1) Typically, MTB infection involves the hips or knees, and the infection can occur secondary to crushing and degradation of the granuloma during surgery or, less commonly, from distant foci spreading through the blood. In the present case, MTB infection likely resulted from haematogenous spread since multiple hot spots suggestive of MTB infection were noted in other sites. Early diagnosis allows for antitubercular therapy with retention of the prosthesis, while late diagnosis frequently results in removal and reimplantation of the joint...
September 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28877747/the-value-of-one-versus-three-sputum-smear-examinations-for-diagnosis-of-pulmonary-tuberculosis-in-asella-hospital-south-east-ethiopia
#17
Fekadu Beyene
OBJECTIVE: The aim of the study is to compare the value of a single with three sputum smear examinations in the detection of smear-positive pulmonary tuberculosis. RESULTS: There were a total of 7012 patients studied out of which 3599 (51.3%) were males and the rest females. In 637 (9.1%) of the patients, two or more smears were positive for AFB. 616 (96.7%) of the sputum smear positive patients had positive smears on the first spot sputum exams as compared to 635 (99...
September 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28875002/prevalence-of-g6pd-deficiency-in-children-with-hepatitis-a
#18
Ghasem Miri-Aliabad, Ali Khajeh, Tooran Shahraki
Introduction: Hepatitis A virus is the most prevalent viral hepatitis. It is globally a major public health problem with different clinical symptoms. This study aimed at investigating the clinical findings and prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in children with hepatitis A. Materials and Methods: In this prospective study, demographical information, clinical findings, and G6PD level of hepatitis A patients, who were visited at Pediatric Hematology clinic, were entered into the database...
April 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28868294/integration-of-proteomics-and-metabolomics-in-exploring-genetic-and-rare-metabolic-diseases
#19
REVIEW
Michele Costanzo, Miriam Zacchia, Giuliana Bruno, Daniela Crisci, Marianna Caterino, Margherita Ruoppolo
BACKGROUND: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases, particularly in children; however, they are individually rare. Clinical phenotypes are very variable, some of them remain asymptomatic, others manifest metabolic decompensation in neonatal age, and others encompass mental retardation at later age...
July 2017: Kidney Diseases
https://www.readbyqxmd.com/read/28866766/an-human-computer-interactive-augmented-reality-system-for-coronary-artery-diagnosis-planning-and-training
#20
Qiming Li, Chen Huang, Shengqing Lv, Zeyu Li, Yimin Chen, Lizhuang Ma
In order to let the doctor carry on the coronary artery diagnosis and preoperative planning in a more intuitive and more natural way, and to improve the training effect for interns, an augmented reality system for coronary artery diagnosis planning and training (ARS-CADPT) is designed and realized in this paper. At first, a 3D reconstruction algorithm based on computed tomographic (CT) images is proposed to model the coronary artery vessels (CAV). Secondly, the algorithms of static gesture recognition and dynamic gesture spotting and recognition are presented to realize the real-time and friendly human-computer interaction (HCI), which is the characteristic of ARS-CADPT...
September 2, 2017: Journal of Medical Systems
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