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https://www.readbyqxmd.com/read/28106506/ectodysplasin-a-in-biological-fluids-and-diagnosis-of-ectodermal-dysplasia
#1
J Podzus, C Kowalczyk-Quintas, S Schuepbach-Mallepell, L Willen, G Staehlin, M Vigolo, A Tardivel, D Headon, N Kirby, M L Mikkola, H Schneider, P Schneider
The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function...
February 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28105348/thyroid-like-low-grade-nasopharyngeal-papillary-adenocarcinoma-a-case-report
#2
Taro Horino, Osamu Ichii, Kazu Hamada-Ode, Tatsuki Matsumoto, Yoshiko Shimamura, Kosuke Inoue, Yoshio Terada
Thyroid-like low-grade nasopharyngeal papillary adenocarcinoma (TL-LGNPPA) is a rare neoplasm characterized by morphological analogy to papillary thyroid carcinoma and abnormal expression of thyroid transcription factor-1 (TTF-1). We herein report a rare case of TL-LGNPPA with a review of its clinical, morphological and immunohistochemical characteristics. The patient was a 25-year-old Japanese woman complaining of a 2-year history of fever of unknown origin. There were no remarkable physical findings and the laboratory tests, including C-reactive protein levels, were normal...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28101774/newborn-screening-for-remethylation-disorders-and-vitamin-b12-deficiency-evaluation-of-new-strategies-in-cohorts-from-qatar-and-germany
#3
Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F Hoffmann, Hilal Al Rifai, Jürgen G Okun
BACKGROUND: Newborn screening is a precondition for early diagnosis and succeßsful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. METHODS: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#4
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28097934/automatic-and-quantitative-measurement-of-laryngeal-video-stroboscopic-images
#5
Chung-Feng Jeffrey Kuo, Joseph Kuo, Shang-Wun Hsiao, Chi-Lung Lee, Jih-Chin Lee, Bo-Han Ke
The laryngeal video stroboscope is an important instrument for physicians to analyze abnormalities and diseases in the glottal area. Stroboscope has been widely used around the world. However, without quantized indices, physicians can only make subjective judgment on glottal images. We designed a new laser projection marking module and applied it onto the laryngeal video stroboscope to provide scale conversion reference parameters for glottal imaging and to convert the physiological parameters of glottis. Image processing technology was used to segment the important image regions of interest...
January 2017: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/28097845/-fatal-case-of-rickettsiosis-in-a-toddler-from-southeastern-mexico
#6
César Lugo-Caballero, Karla Dzul-Rosado, Georgina Rodríguez-Moreno, Raúl Tello-Martín, Karina López-Ávila, Jorge Zavala-Castro
Rocky Mountain spotted fever is a disease caused by Rickettsia rickettsii, a bacteria transmitted by infected ticks. It is characterized by fever, exanthema, arthralgias and myalgias; but sometimes its clinical presentation is non specific. Due to its similarities with other exanthematic diseases like dengue or chikungunya, Rocky Mountain spotted fever is not a first line diagnosis, even though countries like Mexico show the ecologic and socioeconomic characteristics that favor its transmission, with a 30% mortality rate among pediatric patients...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#7
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#8
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28092090/prevalence-of-mucopolysaccharidosis-types-i-ii-and-vi-in-the-pediatric-and-adult-population-with-carpal-tunnel-syndrome-cts-retrospective-and-prospective-analysis-of-patients-treated-for-cts
#9
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund
BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28088027/an-alternative-strategy-to-western-blot-as-a-confirmatory-diagnostic-test-for-hiv-infection
#10
Xia Feng, Jibao Wang, Zhiyun Gao, Yu Tian, Ling Zhang, Huichao Chen, Tong Zhang, Lin Xiao, Jun Yao, Wenge Xing, Maofeng Qiu, Yan Jiang
BACKGROUND: In China, western blot (WB) is the recommended procedure for the diagnosis of HIV infection. However, this technique is time consuming and labor intensive, and its complexity restricts wide application in resource-limited regions. OBJECTIVE: The aim of this study was to evaluate the efficacy of a dry blood spots (DBS)-urine paired enzyme-linked immunosorbent assay (ELISA) test, instead of WB, for HIV antibody detection. STUDY DESIGN: Plasma, DBS, and urine samples were collected from 1213 subjects from different populations...
December 21, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28079801/acute-necrotizing-retinal-vasculitis-as-onset-of-systemic-lupus-erythematosus-a-case-report
#11
Simeon Monov, Ruska Hristova, Rositza Dacheva, Reni Toncheva, Russka Shumnalieva, Viara Shoumnalieva-Ivanova, Daniela Monova
RATIONALE: Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by autoantibody production, complement activation, and deposition of immune complexes in tissues and organs. SLE can involve any region of the visual system. Although ocular manifestations are not part of the classification criteria for SLE, they can be observed in up to one-third of the patients with SLE. They are rarely reported at the time of disease onset. Retinal vasculitis is usually associated with active generalized disease...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28073909/the-detection-of-spotted-fever-group-rickettsia-dna-in-tick-samples-from-pastoral-communities-in-kenya
#12
Hellen Koka, Rosemary Sang, Helen Lydia Kutima, Lillian Musila
In this study, ticks from pastoral communities in Kenya were tested for Rickettsia spp. infections in geographical regions where the presence of tick-borne arboviruses had previously been reported. Rickettsial and arbovirus infections have similar clinical features which makes differential diagnosis challenging when both diseases occur. The tick samples were tested for Rickettsia spp. by conventional PCR using three primer sets targeting the gltA, ompA, and ompB genes followed by amplicon sequencing. Of the tick pools screened, 25% (95/380) were positive for Rickettsia spp...
January 10, 2017: Journal of Medical Entomology
https://www.readbyqxmd.com/read/28067720/swept-source-optical-coherence-tomography-evaluation-of-chorioretinal-changes-in-hypertensive-choroidopathy-related-to-hellp-syndrome
#13
Daniel Velazquez-Villoria, Pablo Marti Rodrigo, Maria L DeNicola, Miguel A Zapata Vitori, Antonio Segura García, Jose García-Arumí
PURPOSE: To report a case of hypertensive choroidopathy with detailed chorioretinal images obtained using swept source optical coherence tomography. METHODS: We report the case of a 36-year-old pregnant woman who presented with extensive bilateral exudative retinal detachments (visual acuity of hands movement bilaterally), high blood pressure, and severe alteration of the laboratory test results resulting in the diagnosis of HELLP syndrome. The baby was delivered by emergency cesarean section and the patient was hospitalized in the intensive care unit...
January 6, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28065440/glycosaminoglycan-levels-in-dried-blood-spots-of-patients-with-mucopolysaccharidoses-and-mucolipidoses
#14
Francyne Kubaski, Yasuyuki Suzuki, Kenji Orii, Roberto Giugliani, Heather J Church, Robert W Mason, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Hironori Kobayashi, Katta M Girisha, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
: Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML...
December 22, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28065439/nine-years-of-newborn-screening-for-classical-galactosemia-in-the-netherlands-effectiveness-of-screening-methods-and-identification-of-patients-with-previously-unreported-phenotypes
#15
Lindsey Welling, Anita Boelen, Terry G J Derks, Peter C J I Schielen, Maaike de Vries, Monique Williams, Frits A Wijburg, Annet M Bosch
INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor effectiveness of NBS programs, we assessed the effectiveness of different screening methods used over time (primary aim), and aimed to identify and investigate patients identified through NBS with previously unreported clinical and biochemical phenotypes (secondary aim)...
December 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28061954/multiple-cytokine-responses-in-discriminating-between-active-tuberculosis-and-latent-tuberculosis-infection
#16
Jing Wu, Sen Wang, Chanyi Lu, Lingyun Shao, Yan Gao, Zumo Zhou, Heqing Huang, Ying Zhang, Wenhong Zhang
BACKGROUND: Cytokines play an important role in cell-mediated immune responses against Mycobacterium tuberculosis (Mtb) infection. Cytokine profile specifically associated with active tuberculosis (ATB) patients, subjects with latent tuberculosis infection (LTBI) and non-infected individuals remains to be determined. METHODS: We enrolled a total of 92 subjects including patients with ATB (n = 25), LTBI (n = 36) and healthy controls (HC, n = 31) to investigate the cytokine production by peripheral blood mononuclear cells after Mtb purified protein derivative (PPD) stimulation which was evaluated by a beads-based multiplex assay system...
January 2017: Tuberculosis
https://www.readbyqxmd.com/read/28060886/point-of-care-p24-infant-testing-for-hiv-may-increase-patient-identification-despite-low-sensitivity
#17
Bindiya Meggi, Timothy Bollinger, Nédio Mabunda, Adolfo Vubil, Ocean Tobaiwa, Jorge I Quevedo, Osvaldo Loquiha, Lara Vojnov, Trevor F Peter, Ilesh V Jani
The long delay in returning test results during early infant diagnosis of HIV (EID) often causes loss-to-follow-up prior to antiretroviral treatment (ART) initiation in resource-limited settings. A point-of-care (POC) test may help overcome these challenges. We evaluated the performance of the LYNX p24 Antigen POC test in Mozambique. 879 HIV-exposed infants under 18 months of age were enrolled consecutively at three primary healthcare clinics (PHC). Lancet heel-drawn blood was tested on-site by nurses using a prototype POC test for HIV Gag p24 antigen detection...
2017: PloS One
https://www.readbyqxmd.com/read/28058166/imaging-methods-in-the-diagnosis-of-optic-disc-drusen
#18
REVIEW
Betül Tuğcu, Hakan Özdemir
Optic disc drusen (ODD) are benign congenital anomalies of the optic nerve characterized by calcified hyaline bodies. While superficial drusen can be diagnosed easily during fundus examination, detecting buried drusen requires the use of additional imaging methods such as B-scan ultrasonography (USG), fundus fluorescein angiography (FFA), computed tomography (CT) and fundus autofluorescence (FAF). ODD can be detected by USG with the presentation of highly reflective round structures. ODD appear as hyperautofluorescent areas on FAF and bright spots on CT scans...
October 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28057123/-ptps-gene-analysis-and-prenatal-diagnosis-in-patients-with-6-pyruvoyl-tetra-hydropterin-synthase-deficiency
#19
N Liu, D H Zhao, X L Li, L X Cui, Q H Wu, M Jiang, X D Kong
Objective: To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods: Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120 μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine reductase (DHPR) was detected. tetrahydrobiopterin loading tests were performed in suspected patients with abnormal urinary pterin profiles...
December 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28056167/filter-paper-assisted-cell-transfer-fact-technique-a-novel-cell-sampling-technique-for-intraoperative-diagnosis-of-central-nervous-system-tumors
#20
Jumpei Kawamura, Shingo Kamoshida, Takaaki Shimakata, Yurie Hayashi, Kuniko Sakamaki, Tamami Denda, Kenji Kawai, Sadahito Kuwao
BACKGROUND: Intraoperative diagnosis of central nervous system (CNS) tumors provides critical guidance to surgeons in the determination of surgical resection margins and treatment. The techniques and preparations used for the intraoperative diagnosis of CNS tumors include frozen sectioning and cytologic methods (squash smear and touch imprint). Cytologic specimens, which do not have freezing artifacts, are important as an adjuvant tool to frozen sections. However, if the amount of submitted tissue samples is limited, then it is difficult to prepare both frozen sections and squash smears or touch imprint specimens from a single sample at the same time...
January 5, 2017: Cancer
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