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Molecular Diagnosis

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https://www.readbyqxmd.com/read/28650987/accuracy-of-zika-virus-disease-case-definition-during-simultaneous-dengue-and-chikungunya-epidemics
#1
José Ueleres Braga, Clarisse Bressan, Ana Paula Razal Dalvi, Guilherme Amaral Calvet, Regina Paiva Daumas, Nadia Rodrigues, Mayumi Wakimoto, Rita Maria Ribeiro Nogueira, Karin Nielsen-Saines, Carlos Brito, Ana Maria Bispo de Filippis, Patrícia Brasil
BACKGROUND: Zika is a new disease in the American continent and its surveillance is of utmost importance, especially because of its ability to cause neurological manifestations as Guillain-Barré syndrome and serious congenital malformations through vertical transmission. The detection of suspected cases by the surveillance system depends on the case definition adopted. As the laboratory diagnosis of Zika infection still relies on the use of expensive and complex molecular techniques with low sensitivity due to a narrow window of detection, most suspected cases are not confirmed by laboratory tests, mainly reserved for pregnant women and newborns...
2017: PloS One
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#2
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28650875/practical-approach-to-syndromic-pediatric-retinal-dystrophies
#3
Karthikeyan A Sadagopan
PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders that are associated with pediatric retinal dystrophy, summarize important retinal, and nonretinal clues that aid in syndromic diagnosis, provide an approach for ophthalmic and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing. RECENT FINDINGS: With profound advances being made in the field of molecular genetics, a definitive molecular etiology is increasingly being made even in rare and unusual forms of retinal dystrophies...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28650678/an-integrative-approach-for-identifying-network-biomarkers-of-breast-cancer-subtypes-using-genomic-interactomic-and-transcriptomic-data
#4
Forough Firoozbakht, Iman Rezaeian, Michele D'agnillo, Lisa Porter, Luis Rueda, Alioune Ngom
Breast cancer is a complex disease that can be classified into at least 10 different molecular subtypes. Appropriate diagnosis of specific subtypes is critical for ensuring the best possible patient treatment and response to therapy. Current computational methods for determining the subtypes are based on identifying differentially expressed genes (i.e., biomarkers) that can best discriminate the subtypes. Such approaches, however, are known to be unreliable since they yield different biomarker sets when applied to data sets from different studies...
June 26, 2017: Journal of Computational Biology: a Journal of Computational Molecular Cell Biology
https://www.readbyqxmd.com/read/28650588/genetic-study-of-the-braf-gene-reveals-a-new-variants-and-high-frequency-of-the-v600e-mutation-among-iranian-ameloblastoma-patients
#5
Maryam Soltani, Mohammad Amin Tabatabaiefar, Zhaleh Mohsenifar, Mohammad Reza Pourreza, Abbas Moridnia, Laleh Shariati, Seyyed Mohammad Razavi
BACKGROUND: Ameloblastoma is a benign, slow-growing, locally invasive tumor. It is one of the most prevalent odontogenic tumors, with an incidence rate of 1% of all oral tumors and approximately 18% of odontogenic tumors. A group of genes has been investigated in patients with ameloblastoma. The BRAF V600E mutation has been implicated as the most common mutation in ameloblastoma. The presence or absence of this mutation has been associated with several clinopathological properties, including location, age at diagnosis, histology, and prognosis...
June 26, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28649808/development-of-a-real-time-loop-mediated-isothermal-amplification-assay-for-detection-of-burkholderia-mallei
#6
V Pal, A Saxena, S Singh, A K Goel, J S Kumar, M M Parida, G P Rai
Burkholderia mallei is the aetiological agent of glanders, a highly contagious and re-emerging zoonotic disease. Early diagnosis of glanders is critically important to ensure timely treatment with appropriate antibiotics in humans, and to prevent spread of infection in animals. Molecular detection of B. mallei has always been troublesome because of its genetic similarity with Burkholderia pseudomallei, the causative agent of melioidosis. In present investigation, a set of six B. mallei-specific primers were designed and a simple, rapid, specific and sensitive real-time loop-mediated isothermal amplification (LAMP) assay was developed for detection of B...
June 25, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28649516/novel-frameshift-variant-in-the-idua-gene-underlies-mucopolysaccharidoses-type-i-in-a-consanguineous-yemeni-pedigree
#7
Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-systemic disease with a broad range of severity and disease progression reported across affected individuals. The aim of this study was the detection and interpretation of IDUA mutation in a family with two children affected with lethal MPS I...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649437/integrating-personalized-gene-expression-profiles-into-predictive-disease-associated-gene-pools
#8
Jörg Menche, Emre Guney, Amitabh Sharma, Patrick J Branigan, Matthew J Loza, Frédéric Baribaud, Radu Dobrin, Albert-László Barabási
Gene expression data are routinely used to identify genes that on average exhibit different expression levels between a case and a control group. Yet, very few of such differentially expressed genes are detectably perturbed in individual patients. Here, we develop a framework to construct personalized perturbation profiles for individual subjects, identifying the set of genes that are significantly perturbed in each individual. This allows us to characterize the heterogeneity of the molecular manifestations of complex diseases by quantifying the expression-level similarities and differences among patients with the same phenotype...
2017: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/28648941/low-grade-fibromyxoid-sarcoma-clinical-morphologic-and-genetic-features
#9
REVIEW
Mustafa Mohamed, Cyril Fisher, Khin Thway
Low-grade fibromyxoid sarcoma (LGFMS) is a bland spindle cell neoplasm that typically arises in the deep soft tissues of the proximal extremities or trunk of young adults. The majority of LGFMS are characterized by a recurrent (7;16)(q34;p11) translocation, resulting in the FUS-CREB3L2 fusion gene, which generates a chimeric protein with transcriptional regulatory activity. Small numbers harbor a FUS-CREB3L1 fusion resulting from t(11;16)(p11;p11), whilst rare cases harbor the EWSR1-CREB3L1 fusion. LGFMS is of low to moderate cellularity and consists of bland spindle cells with small, angulated nuclei and scant, wispy cytoplasm, arranged in a whorled growth pattern and typically showing abrupt transition from myxoid to fibrous areas...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28648936/diagnostic-pathology-of-alzheimer-s-disease-from-routine-microscopy-to-immunohistochemistry-and-experimental-correlations
#10
Gerard Nuovo, Bernard Paniccia, Louisa Mezache, Maria Quiñónez, James Williams, Paige Vandiver, Paolo Fadda, Vicky Amann
The absence of any histologic correlate for Alzheimer's disease despite its commonness and severe clinical sequelae may offers clues to its etiology. Recent evidence strongly suggests that the central event of this disease is the hyperphosphorylation of neuronal tau protein and not the beta amyloid precipitates. In each case, essential and soluble neuronal proteins derivatives form insoluble aggregates that can readily be detected by immunohistochemistry using antibodies specific for the misfolded proteins...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28648772/clinical-outbreak-of-babesiosis-caused-by-babesia-capreoli-in-captive-reindeer-rangifer-tarandus-tarandus-in-the-netherlands
#11
Jan H Bos, Fokko C Klip, Hein Sprong, Els M Broens, Marja J L Kik
From a herd of captive reindeer (Rangifer tarandus tarandus) consisting of two males and seven females with five calves, three calves were diagnosed on post mortem examination with a Babesia capreoli infection. The diagnosis was indicated by PCR and when the other reindeer were examined two adult females and a one-year-old male were Babesia-positive. Molecular characterization of the 18S rDNA of the parasite showed complete identity with known B. capreoli sequences. Ixodes ricinus has been demonstrated to be a competent vector for B...
June 20, 2017: Ticks and Tick-borne Diseases
https://www.readbyqxmd.com/read/28648695/the-usefulness-of-advanced-lipid-and-oxidative-stress-testing-for-diagnosis-and-management-of-low-hdl-cholesterol-phenotype-a-case-report
#12
Vladimir Kuburovic, Jelena Vekic, Aleksandra Zeljkovic, Alain Carrie, Jelena Kotur-Stevuljevic, Dragana Bojanin, Jovan Kosutic, Vesna Spasojevic-Kalimanovska, Milica Miljkovic, Nina Kuburovic, Philippe Couvert
OBJECTIVE: Plasma high-density lipoprotein cholesterol (HDL-C) level is a strong inverse predictor of cardiovascular disease (CVD) development. Tangier disease, a consequence of mutations in the ATP binding cassette transporter 1 (ABCA1) gene, is associated with very low HDL-C levels. Still, the relationship between Tangier disease and CVD is not always evident. The study investigates usefulness of lipoprotein subfractions, oxidative stress and paraoxonase 1 (PON1) status assessment for evaluation and management of patient with low HDL-C phenotype...
June 22, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28648513/inheritable-and-sporadic-non-autoimmune-hyperthyroidism
#13
REVIEW
Carolina Ferraz, Ralf Paschke
Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#14
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647581/development-of-field-applicable-tests-for-rapid-and-sensitive-detection-of-candidatus-phytoplasma-oryzae
#15
Lillian Wambua, Bernd Schneider, Allan Okwaro, Joseph Odhiambo Wanga, Olive Imali, Peninah Nduku Wambua, Lavender Agutu, Cassandra Olds, Chris Stephen Jones, Daniel Masiga, Charles Midega, Zeyaur Khan, Joerg Jores, Anne Fischer
Napier grass Stunt Disease (NSD) is a severe disease of Napier grass (Pennisetum purpureum) in Eastern Africa, caused by the leafhopper-transmitted bacterium Candidatus Phytoplasma oryzae. The pathogen severely impairs the growth of Napier grass, the major fodder for dairy cattle in Eastern Africa. NSD is associated with biomass losses of up to 70% of infected plants. Diagnosis of NSD is done by nested PCR targeting the phytoplasma DNA, which is difficult to perform in developing countries with little infrastructure...
June 21, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#16
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28646564/the-interference-of-genetic-associations-in-establishing-the-prognostic-value-of-the-immunophenotype-in-acute-myeloid-leukemia
#17
Thomas S van Solinge, Wendelien Zeijlemaker, Gert J Ossenkoppele, Jacqueline Cloos, Gerrit J Schuurhuis
Background In acute myeloid leukemia controversy exists about the role of immunophenotyping of the blasts at diagnosis as a potential prognostic factor. Methods We retrospectively analyzed immunophenotypic marker expression on blasts in relation to genetic aberrancies and survival data of 684 patients. All patients were included in different studies from the HOVON/SAKK Consortium. Results Markers CD2, CD7, CD11b, CD19, CD22 and CD56 all appeared to be associated with one or more established prognostic genetic aberrancies...
June 23, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28646473/detection-of-foxo1-break-apart-status-by-fluorescence-in-situ-hybridization-in-atypical-alveolar-rhabdomyosarcoma
#18
Libing Fu, Yaqiong Jin, Chao Jia, Jie Zhang, Jun Tai, Hongbin Li, Feng Chen, Jin Shi, Yongli Guo, Xin Ni, Lejian He
The morphologies of alveolar rhabdomyosarcoma (ARMS) are various. Some cases entirely lack an alveolar pattern and instead display a histological pattern that overlaps with embryonal rhabdomyosarcoma (ERMS). The method of pathological diagnosis of ARMS and ERMS has been updated in the 4th edition of the World Health Organization's guidelines for classification of skeletal muscle tumors. Under the new guidelines, there is still no molecular test to distinguish between these two subtypes of rhabdomyosarcoma (RMS)...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28645742/gastrointestinal-stromal-tumors-gist-presenting-in-the-liver-diagnostic-prognostic-and-therapeutic-issues
#19
Natacha Joyon, Jérôme Dumortier, Aude Aline-Fardin, Caroline Caramella, Pierre-Jean Valette, Jean-Yves Blay, Jean-Yves Scoazec, Peggy Dartigues
CONTEXT: Extra-gastrointestinal stromal tumors (E-GIST) presenting in the liver are exceedingly rare and raise difficult diagnostic and therapeutic challenges. METHODS: We report on two cases of liver E-GIST with different clinical presentations. We describe their clinical and imaging features, their histopathological and molecular characteristics, their treatment and their course. RESULTS: The first case was that of a 56-year-old male presenting with a 10-cm liver mass; the initial diagnosis, made in 1986 from a biopsy sample, was leiomyosarcoma; liver transplantation was performed in 1987; no extra-hepatic tumor was found; the course was uneventful until 1999, when tumor recurrence was diagnosed along the initial biopsy route; after reevaluation of available material, the definitive pathological diagnosis was GIST; imatinib treatment resulted in major response; the patient died of end-stage kidney disease 22 years after the initial diagnosis and 9 years after tumor recurrence...
June 20, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28645295/identification-of-the-flotillin-1-2-heterocomplex-as-a-target-of-autoantibodies-in-bona-fide-multiple-sclerosis
#20
S Hahn, G Trendelenburg, M Scharf, Y Denno, S Brakopp, B Teegen, C Probst, K P Wandinger, M Buttmann, A Haarmann, F Szabados, M Vom Dahl, T Kümpfel, P Eichhorn, H Gold, F Paul, S Jarius, N Melzer, W Stöcker, L Komorowski
BACKGROUND: Autoantibodies, in particular those against aquaporin-4 and myelin-oligodendrocyte glycoprotein (MOG), aid as biomarkers in the differential diagnosis of demyelination. Here, we report on discovery of autoantibodies against flotillin in patients with multiple sclerosis (MS). METHODS: The target antigen was identified by histo-immunoprecipitation using the patients' sera and cryosections of rat or pig cerebellum combined with mass spectrometrical analysis...
June 23, 2017: Journal of Neuroinflammation
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