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https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#1
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27897197/on-site-rapid-diagnosis-of-intracranial-hematoma-using-portable-multi-slice-microwave-imaging-system
#2
Ahmed Toaha Mobashsher, A M Abbosh
Rapid, on-the-spot diagnostic and monitoring systems are vital for the survival of patients with intracranial hematoma, as their conditions drastically deteriorate with time. To address the limited accessibility, high costs and static structure of currently used MRI and CT scanners, a portable non-invasive multi-slice microwave imaging system is presented for accurate 3D localization of hematoma inside human head. This diagnostic system provides fast data acquisition and imaging compared to the existing systems by means of a compact array of low-profile, unidirectional antennas with wideband operation...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27892844/identification-of-b-cell-epitope-of-leishmania-donovani-and-its-application-in-diagnosis-of-visceral-leishmaniasis
#3
Fauzia Jamal, Manas Ranjan Dikhit, Manish K Singh, Pushkar Shivam, Sarita Kumari, Pushpanjali, Amit K Dubey, Prakash Kumar, Shyam Narayan, Anil K Gupta, Krishna Pandey, V N R Das, Sanjiva Bimal, Pradeep Das, Shubhankar K Singh
Diagnosis of visceral leishmaniasis (VL) is often hindered by cross-reactions with antigens from other related parasite infections. This study aimed to develop an immunochromatographic test (ICT) which can detect the antigen present in circulating immune complexes (CICs) of VL patients using B cell epitope-specific antibodies. MS analysis of six immunoreactive 2DE spots revealed two epitopes i.e RFFVQGDGIGQHSLQEALERR (P1) and RRVAVLVLLDRL (P2) (From a hypothetical protein [Acc No: XP_003861458.1]). The epitope conservancy analysis suggested that the linear epitope (P1P2) is 97% to 100% conserved among Leishmania species and diverged from Homo sapiens (61% query coverage and 80% identity)...
November 28, 2016: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#4
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27876238/thermography-examination-of-abdominal-area-skin-temperatures-in-individuals-with-and-without-focal-onset-epilepsy
#5
Hollis H King, Charles Thomas Cayce, Jeph Herrin
: Early osteopathic theory and practice, and the work of the medical intuitive Edgar Cayce suggested that the abdominal areas of individuals with epilepsy would manifest "cold spots." The etiology for this phenomenon was thought to be abdominal adhesions caused by inflammation and viscero-somatic reflexes caused by adhesions or injury to visceral or musculoskeletal system structures. Indeed, until that advent of electroencephalography in the 1930s, medical practice regarding epilepsy focused on abdominal neural and visceral structures...
October 21, 2016: Explore: the Journal of Science and Healing
https://www.readbyqxmd.com/read/27864860/evaluation-of-a-loop-mediated-isothermal-amplification-assay-based-on-hrpz-gene-for-rapid-detection-and-identification-of-pseudomonas-syringae-pv-lachrymans-in-cucumber-leaves
#6
Xiang-Long Meng, Xue-Wen Xie, Yan-Xia Shi, A-Li Chai, Zhan-Hong Ma, Bao-Ju Li
AIMS: Cucumber angular leaf spot caused by Pseudomonas syringae pv. lachrymans (Psl) is an important and destructive disease worldwide, and no effective technique has been developed for the control of the pathogen. Detection of infection or latent in cucumber plants is critical to evaluate disease progress and strengthening management to avoid a serious epidemic in the fields. In this paper, we developed a rapid and sensitive method for detection of Psl using a isothermal method known as loop-mediated amplification (LAMP)...
November 19, 2016: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/27861477/-complications-and-cause-of-death-in-mexican-children-with-rocky-mountain-spotted-fever
#7
Miguel Ángel Martínez-Medina, Adela Rascón-Alcantar
BACKGROUND: Rocky Mountain spotted fever is a life threatening disease caused by Rickettsia rickettsia, characterized by multisystem involvement. METHODS: We studied 19 dead children with Rocky Mountain spotted fever. All children who were suspected of having rickettsial infections were defined as having Rocky Mountain spotted fever by serology test and clinical features. Through the analysis of each case, we identified the clinical profile and complications associated to the death of a patient...
November 2016: Gaceta Médica de México
https://www.readbyqxmd.com/read/27858862/utility-of-t-cell-interferon-%C3%AE-release-assays-for-the-diagnosis-of-female-genital-tuberculosis-in-a-tertiary-referral-hospital-in-beijing-china
#8
Xiaoqing Liu, Sainan Bian, Xinhe Cheng, Wenze Wang, Qinjie Tian, Lifan Zhang, Yueqiu Zhang, Xiaochun Shi, Yao Zhang, Zhiyong Liang
Diagnosis of female genital tuberculosis (FGTB) remains a challenge. The aim of this study was to evaluate the diagnostic value of T-SPOT.TB on peripheral blood mononuclear cells (PBMCs) for diagnosing FGTB in an area with high TB burden.Patients with suspected FGTB were enrolled consecutively between August 2010 and August 2015. T-SPOT.TB on PBMCs and histopathology were performed in all patients. T-SPOT.TB results were evaluated against patients' final diagnosis of FGTB which was made based on clinical manifestations, radiology, microbiological and histopathological evaluation, and response to anti-TB treatment...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27857825/evaluation-of-the-upgraded-version-2-0-of-the-roche-cobas-%C3%A2-ampliprep-cobas-%C3%A2-taqman-hiv-1-qualitative-assay-in-central-african-children
#9
C D Mossoro-Kpinde, M A Jenabian, J C Gody, L Robin, P Talla, Jdd Longo, G Grésenguet, L Belec
BACKGROUND: Several commercially available molecular techniques were developed based on subtype B of HIV-1, which represents only 10% of HIV strains worldwide. Indeed, in sub-Saharan Africa, non-B subtypes of HIV-1 are predominant. The aim of this study was to evaluate the performances of the COBAS(®) AmpliPrep/COBAS(®) (CAP/CTM) HIV-1 Qualitative assays to detect the broad range of HIV-1 variants circulating in Central Africa and compare to the outgoing CAP/CTM HIV-1 Quantitative test v2...
2016: Open AIDS Journal
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#10
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27836016/reduction-in-malaria-prevalence-and-increase-in-malaria-awareness-in-endemic-districts-of-bangladesh
#11
Mohammad Shafiul Alam, Mohammad Moktadir Kabir, Mohammad Sharif Hossain, Shamsun Naher, Nur E Naznin Ferdous, Wasif Ali Khan, Dinesh Mondal, Jahirul Karim, A K M Shamsuzzaman, Be-Nazir Ahmed, Akramul Islam, Rashidul Haque
BACKGROUND: Malaria is endemic in 13 districts of Bangladesh. A baseline malaria prevalence survey across the endemic districts of Bangladesh was conducted in 2007, when the prevalence was reported around 39.7 per 1000 population. After two rounds of Global Fund to Fight AIDS, Tuberculosis and Malaria (GFATM)-funded intervention by the National Malaria Control Programme (NMCP) and a BRAC-led NGO consortium, a follow-up survey was conducted across the malaria-endemic districts of Bangladesh to measure the change in prevalence rate and in people's knowledge of malaria...
November 11, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27832806/diagnosis-of-extraskeletal-myxoid-chondrosarcoma-in-the-thigh-using-ewsr1-nr4a3-gene-fusion-a-case-report
#12
Hiroki Kobayashi, Kazutaka Kikuta, Tetsuya Sekita, Michiro Susa, Kazumasa Nishimoto, Aya Sasaki, Kaori Kameyama, Shintaro Sugita, Tadashi Hasegawa, Masaya Nakamura, Morio Matsumoto, Hideo Morioka
BACKGROUND: Extraskeletal myxoid chondrosarcoma is a rare soft tissue sarcoma that has unusual ultrastructural and molecular features. However, unlike other soft tissue sarcomas, it does not have specific clinical symptoms or radiological features, which can make its diagnosis difficult. Nevertheless, extraskeletal myxoid chondrosarcoma has a rare gene fusion (EWSR1-NR4A3) that is useful for making a differential diagnosis. CASE PRESENTATION: A 43-year-old Japanese man presented with a soft tissue mass in his right thigh...
November 10, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27832731/screening-fabry-s-disease-in-chronic-kidney-disease-patients-not-on-dialysis-a-multicenter-study
#13
Yavuz Yeniçerioğlu, Hakan Akdam, Belda Dursun, Alper Alp, Funda Sağlam Eyiler, Davut Akın, Yelda Gün, Bülent Hüddam, Mehmet Batmazoğlu, Dilek Gibyeli Genek, Serhat Pirinççi, İsmail Rıfkı Ersoy, Atilla Üzüm, Zeki Soypaçacı, Mehmet Tanrısev, Hülya Çolak, Sibel Demiral Sezer, Gökay Bozkurt, Utku Oğan Akyıldız, Ayşe İpek Akyüz Ünsal, Mustafa Ünübol, Meltem Uslu, Ufuk Eryılmaz, Ceren Günel, İbrahim Meteoğlu, İrfan Yavaşoğlu, Alparslan Ünsal, Harun Akar, Pınar Okyay
OBJECTIVES: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. METHODS: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled...
November 10, 2016: Renal Failure
https://www.readbyqxmd.com/read/27829334/cellular-tests-for-the-evaluation-of-drug-hypersensitivity
#14
Adriana Ariza, Maria I Montañez, Tahia D Fernández, James R Perkins, C Mayorga
The diagnosis of drug hypersensitivity reactions (DHR) is complex, with many potential pitfalls. Although the use of clinical history and skin testing can be valuable, drug provocation testing (DPT) remains the gold standard for many DHR. However, DPT carries some potential risk and should not be performed for severe reactions. There is therefore a general consensus on the need for in vitro tests to achieve safe and accurate diagnosis of DHR. A range of in vitro approaches can be applied depending on the type of reaction and the immunological mechanism involved, i...
November 7, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27828899/ultra-wide-field-fundus-imaging-in-the-diagnosis-and-follow-up-of-susac-syndrome
#15
Panagiotis Salvanos, Morten C Moe, Tor P Utheim, Ragnheiur Bragadóttir, Emilia Kerty
PURPOSE: To present the use of ultra-wide-field (UW) fundus imaging in the diagnosis and follow-up of a patient with Susac syndrome. METHODS: Case report of a myopic patient presenting initially with rhegmatogenous retinal detachment. A significant portion of the retina was found to be avascular bilaterally at presentation. Surgery was performed with scleral buckle. Then, UW color and autofluorescent imaging and UW fluorescein angiography were obtained. RESULTS: Successful retinal reattachment was obtained...
November 8, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27824638/autism-spectrum-disorder-and-avoidant-restrictive-food-intake-disorder
#16
Jennifer Lucarelli, Demetra Pappas, Leah Welchons, Marilyn Augustyn
Kendra is a 4-year-old girl with autism spectrum disorder (ASD) who presents for follow-up of feeding problems to her pediatric clinician. She is an only child in a family where both parents are scientists. Feeding concerns date to infancy, when she was diagnosed with Gastroesophageal Reflux Disease (GERD) associated with persistent bottle refusal and the acceptance of few pureed foods. At 13 months, milk and peanut allergies were diagnosed. Following a feeding clinic evaluation at 24 months, she was prescribed a soy milk supplement and an H2 blocker...
November 4, 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27821346/radiolabeling-and-biological-characterization-of-tpgs-based-nanomicelles-by-means-of-small-animal-imaging
#17
Fiorella Carla Tesan, Mariano Gastón Portillo, Marcela Analía Moretton, Ezequiel Bernabeu, Diego Andrés Chiappetta, Maria Jimena Salgueiro, Marcela Beatriz Zubillaga
INTRODUCTION: In recent years, nanomedicines have raised as a powerful tool to improve prevention, diagnosis and treatment of different pathologies. Among the most well investigated biomaterials, D-α-tocopheryl polyethylene glycol succinate (also known as TPGS) has been on the spot for the last decade. We therefore designed a method to biologically characterize TPGS-based nanomicelles by labeling them with (99m)Tc. METHODS: Labeling process was performed by a direct method...
September 30, 2016: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/27820754/en-face-optical-coherence-tomography-of-multiple-evanescent-white-dot-syndrome
#18
Daniel Su, David Xu, Nopasak Phasukkijwatana, David Sarraf
PURPOSE: To report novel en face imaging findings of multiple evanescent white dot syndrome. METHODS: A 25-year-old woman presented with photopsia and vision loss affecting the left eye. Ophthalmic examination, color fundus photography, fluorescein angiography, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence, en face OCT, and OCT angiography were performed. RESULTS: The diagnosis of multiple evanescent white dot syndrome was made based on clinical examination and multimodal imaging findings...
November 3, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27814620/mucopolysaccharidosis-vi-pathophysiology-diagnosis-and-treatment
#19
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#20
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
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