Zeitschriftenartikel: „Molecular Diagnosi“

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Pietravalle, Andrea, Paola Cavicchioli, Enrica Donadel, Marta Lusiani, Tommaso Malusa, Giuliana Rossi, Giovanna Contreas und Michela Chirico. „Diagnosi precoce di diabete neonatale permanente conseguente a mutazione del gene KCNJ11“. Medico e Bambino pagine elettroniche 25, Nr. 2 (28.02.2022): 39–42. http://dx.doi.org/10.53126/mebxxv039.

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Neonatal diabetes mellitus (NDM) is a rare condition characterized by onset of persistent hyperglycaemia with-in the first six months of life. Heterozygous mutations in KCNJ11 gene account for about half of the cases of per-manent form of NDM and are associated with a wide range of neurocognitive disabilities. In suspected NDM, immediate molecular genetic testing is recommended because most of the cases due to mutations in KCNJ11 gene are responsive to oral sulfonylurea (SU) therapy with excellent glycaemic control at long term follow up. The present report describes a case of early detection of permanent NDM, due to KCNJ11 gene mutation, which has been successfully treated with SU oral therapy.

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Kutty, Dr A. V. M. „Molecular Diagnosis: A boon to healthcare“. JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES 10, Nr. 3 (15.09.2020): 74–75. http://dx.doi.org/10.58739/jcbs/v10i3.4.

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Diagnostic procedures are one of the essen-tial components in healthcare system. These tests provide cardinal information to enable clinicians to make accurate medical diagnosis, decide on manage-ment and treatment of diseases. The field of molecu-lar diagnostics owe a great deal to the developments in molecular biology which reached newer vistas in the early part of twenty first century. The applicabil-ity of molecular diagnostics have gathered momen-tum subsequent to the accomplishments of the hu-man genome project.

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Zhao, Sen, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao et al. „Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)“. Journal of Medical Genetics 58, Nr. 1 (07.05.2020): 41–47. http://dx.doi.org/10.1136/jmedgenet-2019-106823.

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BackgroundEarly-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening.MethodsIn this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited.ResultsAfter ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis.ConclusionES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.

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Burboa Meza, Cinthya Y., Alexandra Zazueta Avitia, David Ramírez Alvarado, Miguel A. Segura Castruita, Paola A. Palmeros Suarez und Juan F. Gómez-Leyva. „DIAGNÓSTICO COMPARATIVO DE BRUCELOSIS MEDIANTE MÉTODOS SEROLÓGICOS Y MOLECULARES“. e-CUCBA 8, Nr. 16 (31.05.2021): 50–55. http://dx.doi.org/10.32870/ecucba.vi16.198.

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Brucellosis is an infectious disease that limits livestock development and greatly affects the livestock economy, being considered one of the most important and widely distributed zoonoses worldwide. Early diagnosis of this disease is an essential tool in its control and eradication. The methods recognized by NOM-041-ZOO-1995, such as the card test and complement fixation, present limitations in the diagnosis, compared to the PCR molecular technique. In the present work, a comparative diagnosis of Brucella spp. was performed by PCR amplification of the gene coding for a protein located in the outer membrane (Omp2a) of Brucella spp. and serological tests in blood, milk and cheese samples from goats and cattle. The results showed a higher sensitivity in the detection by PCR technique, while the card test and complement fixation showed inconsistencies due to the occurrence of false positives and negatives. Based on the results, it is suggested to include the PCR technique in the Mexican Official Standard as an objective alternative in the routine diagnosis of brucellosis.

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Greco, F. Anthony. „Cancer of Unknown Primary Site: Improved Patient Management with Molecular and Immunohistochemical Diagnosis“. American Society of Clinical Oncology Educational Book, Nr. 33 (Mai 2013): 175–81. http://dx.doi.org/10.14694/edbook_am.2013.33.175.

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Cancer of unknown primary site (CUP) is a common heterogeneous clinicopathologic syndrome, but investigations and publications regarding these patients are rare. For the last 20 years, empiric “broad-spectrum” chemotherapy has been the standard therapy for the majority of these patients. More recently, improved immunocytochemistry and advent of gene-expression profiling have provided the diagnostic tools necessary to accurately define the tissue of origin in most patients. Molecular profiling assays complement standard pathologic diagnosis, and a recently reported large prospective study demonstrated an improvement in outcome for patients treated with site-specific therapy directed by the molecular assay diagnoses compared with empiric chemotherapy. Survival in molecularly diagnosed patients was as expected for those particular tumor types. The evaluation of patients has become more standardized. The empiric-chemotherapy era is ending and customized therapies based on accurate tissue of origin diagnoses have arrived. Eventually the recognition of the molecular aberrations responsible for the growth and metastasis of solid tumors, regardless of the tissue of origin, will lead to more precise and effective therapy for patients with advanced cancers.

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Fujita, Naohide, Osamu Akiyama und Akihide Kondo. „PATH-08. THE IMPORTANCE OF RE-DIAGNOSIS OF TUMORS PREVIOUSLY CLASSIFIED AS CENTRAL NERVOUS SYSTEM PRIMITIVE NEUROECTODERMAL TUMORS“. Neuro-Oncology 22, Supplement_3 (01.12.2020): iii426. http://dx.doi.org/10.1093/neuonc/noaa222.644.

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Abstract BACKGROUND The recent molecular analyses have revealed that central nervous system primitive neuroectodermal tumors (CNS PNETs) those having clusters of small round tumor cells are genetically different tumors. However, the concepts of CNS PNET are complicated, and it is difficult to diagnose them appropriately in clinical field. To overcome this difficulty, we reviewed previous studies associated with CNS PNETs, and carried out several approaches, those are relatively easy access to use in clinics, for our 8 samples of embryonal brain tumors diagnosed CNS PNETs in our institution, initially. METHODS We used in combination with immunohistochemistry (IHC), Sanger sequence, Pyrosequence, polymerase chain reaction (PCR), real time PCR and copy number analysis referring recent reports. RESULTS In terms of the diagnosis three out of 8 cases were changed based on the results in this study from previous diagnoses. CONCLUSION In this review, it seemed that either the histopathological evaluation or molecular analyses would be not enough to make accurate diagnosis of CNS embryonal brain tumors, and it is essential to combine both of them including recent comprehensive analysis methods.

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Luk, Ho-Ming. „Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases“. Case Reports in Genetics 2016 (2016): 1–6. http://dx.doi.org/10.1155/2016/9790169.

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Epigenetic abnormalities in 15q11-13 imprinted region andUBE3Amutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians.

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ERDOĞAN, Emrah, Merve YÜRÜK, Eda SİVCAN, Serkan KARACA, Orhan YILDIZ und İzzet ŞAHİN. „Plasmodium ovale Sıtması ve Moleküler Tanısı: Relaps Olabilir mi?“ Mikrobiyoloji Bulteni 53, Nr. 1 (15.01.2019): 106–13. http://dx.doi.org/10.5578/mb.67713.

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Pohanka, M., R. Chlibek, K. Kuca, H. Bandouchova und J. Pikula. „Diagnosis of tularemia using biochemical, immunochemical and molecular methods: a review“. Veterinární Medicína 56, No. 9 (06.10.2011): 453–61. http://dx.doi.org/10.17221/3207-vetmed.

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  Tularemia, an infection caused by the intracellular gram-negative bacterium Francisella tularensis, is accompanied by high mortality and occurs throughout the Northern Hemisphere. The causative agent is also considered one of the most important biological warfare agents. As well as its taxonomy and epidemiology, the basic immunochemical, biochemical, and molecular approaches for disease diagnosis are outlined in this review. Aspects of immune responses during tularemia and damage to specific organs are discussed with regards to the predictive value of standard biomarkers. Bacterial burden is also considered as a limitation for polymerase-chain-reaction-based diagnosis.

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Eszlinger, Markus, Kurt Werner Schmid und Ralf Paschke. „Clinical implications of molecular studies for the diagnosis of thyroid cancer“. HORMONES 9, Nr. 1 (15.01.2010): 51–56. http://dx.doi.org/10.14310/horm.2002.1253.

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Carey, Christopher Daniel, Daniel Gusenleitner, Zhang Xuan, Aliyah R. Sohani, Olga Weinberg, Hongbo Yu, Ben Chen et al. „Resolving the Biological Heterogeneity of B-Cell Lymphoma, Unclassifiable, with Features Intermediate Between DLBCL and BL (BCL-U) Using Quantitative Profiles of Oncogenic Signaling Networks“. Blood 126, Nr. 23 (03.12.2015): 3903. http://dx.doi.org/10.1182/blood.v126.23.3903.3903.

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Abstract BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) have characteristic cellular, phenotypic, and genetic characteristics that reflect their distinctive biology. These distinctions are attributable, in part, to differential activity of defined oncogenic signaling pathways, including TCF3/ID3, NFkB, MYC, and BCL2 (Carey et al, JMD, 2015). B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL (BCL-U) encompasses a group of tumors with ambiguous features and likely heterogeneous biology. We used targeted gene expression profiling and a molecular classifier based on the major signaling networks active in DLBCL and/or BL to address the biological heterogeneity of BCL-U. METHODS: We analyzed RNA isolated from paraffin-embedded tissue sections of 72 aggressive B-cell lymphomas (BCLs) selected according to original pathological diagnoses of BL (12 cases), DLBCL (20 cases), BCL-U (22 cases), and 'large B-cell lymphoma with high grade features' (18 cases). Sixteen genetic double hit lymphomas (DHLs) that combine a MYC -rearrangement with a BCL2 - and / or BCL6 -rearrangement were included in the series. Five hematopathologists reviewed each case to separate those with a consensus diagnosis from those where there was no consensus. We profiled the RNA in 2 laboratories and used a molecular diagnostic classifier to provide a "probability score" for the diagnosis of BL or DLBCL. Cases with a diagnostic score of >0.75 were categorized as "molecular BL" (mBL), between 0.25 and 0.75 as intermediate between BL and DBLCL (intBCL), and ≤0.25 as "molecular DLBCL" (mDLBCL). Finally, we compared the results of expert review with the results of molecular classification. RESULTS: Eight of 8 consensus diagnoses of BL classified molecularly as mBL and 13/13 consensus diagnoses of DLBCL classified as mDLBCL (100%). Seventy of 72 cases (97.2%) were molecularly classified with consensus upon profiling in 2 laboratories. Consensus pathological diagnoses that agreed with the original diagnoses were reached in 6/9 BL (66.7%), 6/12 DLBCL (50%) and 2/22 BCL-U (9.1%). Cases classified as BCL-U by two or more expert pathologists (29) were assigned to all molecular diagnostic categories, including 11 (15.7%) to mBL, 12 (41.4%) to intBCL, and 6 (20.7%) to mDLBCL. Similarly, subsets of DHLs with molecular consensus (14) classified as mBL (21.4%), intBCL(64.3%) and mDLBCL (14.3%). Among cases without a consensus pathological diagnosis, 9 (34.6%) were classified as mBL with high probability, 14 (53.8%) were classified as mDLBCL with high probability, and 3 (11.5%) were classified as intBCL. CONCLUSIONS: We find that the quantitative analysis of oncogenic signaling pathways using targeted expression profiling accurately and reproducibly 1) segregates BL from DLBCL, 2) assigns a subset of BCLs that are not diagnosed with consensus by traditional methods to mBL and mDLBCL and 3) identifies subsets of DHLs with molecular signatures of mBL, intBCL, and mDLBCL. Targeted molecular profiling and molecular classification of aggressive B-cell lymphomas is a useful new ancillary test in the diagnostic evaluation of aggressive B-cell lymphomas that provides a biological framework for designing rational treatment strategies. Figure 1. Figure 1. Disclosures Rodig: Perkin Elmer: Membership on an entity's Board of Directors or advisory committees; Bristol Myers Squibb: Research Funding.

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Choi, Hyoung Soo, Qute Choi, Jung Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Ju Han Kim et al. „Comparison of Clinical Diagnosis for Hereditary Spherocytosis with Molecular Diagnosis By Multi-Gene Target Sequencing in Korea“. Blood 128, Nr. 22 (02.12.2016): 1243. http://dx.doi.org/10.1182/blood.v128.22.1243.1243.

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Abstract Background: Hereditary spherocytosis (HS) is the most common cause of hereditary hemolytic anemia. Current tests used to diagnose HS focus on the detection of hemolysis or indirectly assess protein defects. Direct methods to detect protein defects are complicated and difficult to implement. Recent next-generation sequencing (NGS) methods enable large-scale gene mutation analyses to be used for such diagnoses. In this study, we investigated the patterns of genetic variation associated with HS among the patients diagnosed with HS clinically. Specifically, we analyzed mutations in red blood cell membrane protein-encoding genes (17 genes) in context with 5 genes for the differential diagnosis (thalassemia, congenital dyserythropoietic anemia, paroxysmal nocturnal hemoglobinuria) in Korean HS. Methods: In total, 60 patients diagnosed with HS were enrolled in this study. Targeted sequencing of 43 genes (17 membrane protein-encoding genes, 20 enzyme-encoding genes, and 6 additional candidate genes) was performed using the Illumina HiSeq platform and variants were called according to a data-processing pipeline. Results: Of the 60 patients, 50 (83%) had one or more significant variants in a membrane protein encoding genes. A total of 54 significant variants (8 previously reported and 46 novel) were detected in 6 membrane protein-encoding genes; SPTB, ANK1, SPTA1, SLC4A1, EPB41, and EPB42. The most variants (28/60 patients) were detected in SPTB. Interestingly, concurrent mutations of genes encoding enzymes (ALDOB, GAPDH, and GSR) were detected along with mutations of membrane encoding genes. One patient diagnosed with HS harbored mutation of G6PD without mutation of HS related genes. Additionally, UGT1A1 mutations were present in 5 patients. Positive rate of osmotic fragility test was 86% among patients with HS related gene mutations. Conclusion: These results clarify the molecular genetic analysis is required for the accurate diagnosis of HS. About 17% of patients who were clinically diagnosed as HS revealed discrepancy with molecular diagnosis. Figure Figure. Disclosures No relevant conflicts of interest to declare.

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Tlamçani, Zineb. „Toxoplasmosis: The value of molecular methods in diagnosis compared to conventional methods“. Journal of Microbiology and Infectious Diseases 3, Nr. 2 (01.06.2013): 93–99. http://dx.doi.org/10.5799/ahinjs.02.2013.02.0089.

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Telegeev, G. „Development and Testing of Complex Molecular Genetic Diagnosis of Genitourinary System Neoplasms“. Science and innovation 11, Nr. 2 (30.03.2015): 35–43. http://dx.doi.org/10.15407/scine11.02.035.

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Barbosa-Gouveia, Sofia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León et al. „Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies“. Journal of Clinical Medicine 11, Nr. 10 (12.05.2022): 2750. http://dx.doi.org/10.3390/jcm11102750.

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Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4–6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN, RYR1, and ANO5, accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.

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Pareira, Eriel Sandika, Makoto Shibuya, Kentaro Ohara, Yu Nakagawa, Tokunori Kanazawa, Dai Kamamoto, Kazunari Yoshida und Hikaru Sasaki. „MPC-13 The evaluation of the shift of trend in lower grade glioma diagnoses based on each era`s criteria“. Neuro-Oncology Advances 3, Supplement_6 (01.12.2021): vi17—vi18. http://dx.doi.org/10.1093/noajnl/vdab159.065.

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Abstract It is found that molecular characteristics in lower grade gliomas (LrGGs) such as codeletion of 1p/19q and IDH mutation was found to be more accurate to predict the patient`s clinical outcome compared to morphological diagnoses alone. Since the revision WHO2016 classification of LrGGs, molecular characteristics were implemented as diagnostic standard for LrGGs diagnoses. In the other hand, morphological diagnostic standard before WHO2016 classification era was determined by different considerations and therapeutic strategies. The malignancy grades were also majorly determined by morphological diagnoses only. This study re-evaluated 20 years of LrGG cases in single institution based on WHO2007 morphological criteria and compared them to the original institutional diagnoses from each era. The study samples were originally grade II-III diffuse glioma-diagnosed cases resected from 1990 to 2016. Biopsy cases were excluded. IDH mutation was analyzed by Sanger sequence and 1p/19 codeletion status was analyzed by Comparative Genome Hybridization (CGH). As the result 93 cases were collected and based on original diagnoses, more than 50% cases are astrocytomas. Compared to re-assessment by morphological diagnoses (WHO 2007), case numbers of astrocytoma diagnoses are decreased whereas oligodendroglioma and oligoastrocytoma case numbers are increased. But, based on WHO2016 criteria, the case number of astrocytomas is again found to be increased. From comparison between original institutional diagnoses and re-assessment results, it is found that there is a shift of trend from astrocytoma to oligodendroglioma and from grade II to grade III. Comparison between morphological diagnoses (WHO2007) and molecular (WHO2016) found that astrocytoma diagnoses remain unchanged meanwhile 45% of oligodendroglioma diagnoses were shifted into astrocytomas. There is a probability that there are high frequency of morphologically diagnosed oligodendroglioma tumors which are having molecular characteristics of astrocytoma. There is a trend that diagnosed grade II LrGGs are actually grade III based on re-assessment diagnosis.

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Nowacka, J., M. Switonski, M. Mackowski, E. Slota, A. Radko, T. Zabek und K. Urbaniak. „The ambiguity of freemartinism diagnosis in cattle revealed by cytogenetic and molecular techniques“. Czech Journal of Animal Science 49, No. 6 (12.12.2011): 239–43. http://dx.doi.org/10.17221/4306-cjas.

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Nineteen heifers and three male co-twins, originating from heterosexual twin pregnancies, were analysed with the use of cytogenetic and molecular techniques. A large number (50–400) of Giemsa stained metaphase spreads were studied and the proportion of XX and XY cell lines was calculated. The presence of two genes – SRY and AMEL (AMELX and AMELY) – was also analysed. Both approaches facilitated the identification of the XX/XY chimerism in 17 females and three males. The proportion of the co-twin cell line ranged from 1 to 99%. In two females no chimerism was detected: (1) 60,XY male chromosome complement in all 400 metaphase spreads; SRY-positive, AMELY-positive, AMELX-positive and (2) 60,XX female chromosome complement in all 200 metaphase spreads; SRY-negative, AMELY-negative, AMELX-positive. The usefulness of different techniques for the diagnosis of freemartinism is discussed.  

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Talavera Vargas-Machuca, Sergio, Ismenia Gamboa Oré, Francia Huamán Dianderas, Ricardo Fujita Alarcón, María Luisa Fajardo Loo und María Luisa Guevara Gil. „Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)“. Horizonte Médico (Lima) 17, Nr. 3 (30.06.2017): 73–78. http://dx.doi.org/10.24265/horizmed.2017.v17n3.12.

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Rubegni, Anna, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci et al. „Next-generation sequencing approach to hyperCKemia“. Neurology Genetics 5, Nr. 5 (16.08.2019): e352. http://dx.doi.org/10.1212/nxg.0000000000000352.

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ObjectiveNext-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.MethodsSixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies.ResultsA molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%. Variants of unknown significance were found in 17 patients (26%), whereas 16 cases (24%) remained molecularly undefined. The major features of the diagnosed cases were mild proximal muscle weakness (found in 27%) and myalgia (in 24%). Fourteen patients with a molecular diagnosis and mild myopathic features on muscle biopsy remained asymptomatic at a 24-month follow-up.ConclusionsThis study of patients with undiagnosed hyperCKemia, highlighting the advantages of NGS used as a first-tier diagnostic approach in genetically heterogeneous conditions, illustrates the ongoing evolution of molecular diagnosis in the field of clinical neurology. Isolated hyperCKemia can be the sole feature alerting to a progressive muscular disorder requiring careful surveillance.

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Veloso, Jéssica Fontes, Leonardo Sauer, Arianne Pontes Oriá, Deusdete Conceição Gomes Junior, Ana Cláudia Santos Raposo, Camila Fernanda Oliveira Andrade, Thais Nascimento de Andrade Oliveira und Renata Santiago Alberto Carlos. „Molecular diagnosis of Ehrlichia canis infection in dogs with uveitis“. Semina: Ciências Agrárias 39, Nr. 3 (04.05.2018): 1049. http://dx.doi.org/10.5433/1679-0359.2018v39n3p1049.

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Canine monocytic ehrlichiosis (CME) is an infectious disease caused by a gram-negative bacterium Ehrlichia canis that has a high global prevalence that leads to high rates of morbidity and mortality in dogs. Among the clinical changes, ophthalmic diseases can lead to permanent blindness and it can be an important clinical sign. The objective of this study was to perform nested polymerase chain reaction (PCR) to diagnose E. canis infection in dogs with bilateral uveitis from the Veterinary Hospital of the Santa Cruz State University. Blood samples were collected and DNA for the molecular diagnosis was extracted from 66 adult dogs of both genders and mixed breeds diagnosed with bilateral uveitis. Thirty-five (53%) dogs showed positive results and presented with iridocyclitis, posterior uveitis, panuveitis, or uveitis with secondary glaucoma. This study demonstrates that nested PCR is an important tool for the differential diagnosis of dogs with bilateral uveitis, as it provides evidence of the infectious agent in the animal.

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Spang, R., und F. Markowetz. „Molecular Diagnosis“. Methods of Information in Medicine 44, Nr. 03 (2005): 438–43. http://dx.doi.org/10.1055/s-0038-1633990.

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Summary Objectives: We discuss supervised classification techniques applied to medical diagnosis based on gene expression profiles. Our focus lies on strategies of adaptive model selection to avoid overfitting in high-dimensional spaces. Methods: We introduce likelihood-based methods, classification trees, support vector machines and regularized binary regression. For regularization by dimension reduction, we describe feature selection methods: feature filtering, feature shrinkage and wrapper approaches. In small sample-size situations efficient methods of data re-use are needed to assess the predictive power of a model. We discuss two issues in using cross-validation: the difference between in-loop and out-of-loop feature selection, and estimating model parameters in nested-loop cross-validation. Results: Gene selection does not reduce the dimensionality of the model. Tuning parameters enable adaptive model selection. The feature selection bias is a common pitfall in performance evaluation. Model selection and performance evaluation can be combined by nested-loop cross-validation. Conclusions: Classification of microarrays is prone to overfitting. A rigorous and unbiased assessment of the predictive power of the model is a must.

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Korf, Bruce. „Molecular Diagnosis“. New England Journal of Medicine 332, Nr. 18 (04.05.1995): 1218–20. http://dx.doi.org/10.1056/nejm199505043321808.

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Korf, Bruce. „Molecular Diagnosis“. New England Journal of Medicine 332, Nr. 22 (Juni 1995): 1499–502. http://dx.doi.org/10.1056/nejm199506013322208.

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Jobouri, Maysoon M. Al, und Ebtesam Th Jeaz. „Molecular Detection of Aspirjillus Ochraceus Isolated from Air Condition Unite in Al Muthanna Province“. Pakistan Journal of Medical and Health Sciences 16, Nr. 4 (26.04.2022): 886–87. http://dx.doi.org/10.53350/pjmhs22164886.

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The current study dealt with the isolation and diagnosis of fungi contaminating air condition AC in the laboratories of the Technical Institute in Al-Muthanna, the laboratories of the College of Agriculture at the University of Al-Muthanna during the period from August 14/08/2020 to 28/2/2022 , This study included isolating and diagnosing a fungus from the refrigeration systems and the total number of samples is 400 isolated samples from the refrigeration systems in the city of Muthanna, After the sample was diagnosed phenotypically and microscopically on the medium of Sabouraud Dextrose Agar, it was molecularly diagnosed after extracting DNA for five isolates from the fungus, where all the isolates showed a positive result373bp for molecular. Keywords: air-conditioning (AC), A.ochraceus, molecular, fungi

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Al-Jobouri, Maysoon M., und Ebtesam Th Jeaz. „Molecular Study of Aspirjillus Ochraceus Isolated from Air Condition Unite in Muthanna City“. Pakistan Journal of Medical and Health Sciences 16, Nr. 4 (26.04.2022): 884–85. http://dx.doi.org/10.53350/pjmhs22164884.

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The current study dealt with the isolation and diagnosis of fungi contaminating air condition AC in the laboratories of the Technical Institute in Al-Muthanna, the laboratories of the College of Agriculture at the University of Al-Muthanna during the period from August 14/08/2020 to 28/2/2022 , This study included isolating and diagnosing a fungus from the refrigeration systems and the total number of samples is 400 isolated samples from the refrigeration systems in the city of Muthanna, After the sample was diagnosed phenotypically and microscopically on the medium of Sabouraud Dextrose Agar, it was molecularly diagnosed after extracting DNA for five isolates from the fungus, where all the isolates showed a positive result373bp for molecular. Keywords: air-conditioning (AC), A.ochraceus, molecular , fungi

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Arsić Arsenijevic, Valentina, Timoleon-Achilleas Vyzantiadis, Mihai Mares, Suzana Otasevic, Athanasios Tragiannidis und Dragana Janic. „Diagnosis of Pneumocystis jirovecii Pneumonia in Pediatric Patients in Serbia, Greece, and Romania. Current Status and Challenges for Collaboration“. Journal of Fungi 6, Nr. 2 (17.04.2020): 49. http://dx.doi.org/10.3390/jof6020049.

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Pneumocystis jirovecii can cause fatal Pneumocystis pneumonia (PcP). Many children have been exposed to the fungus and are colonized in early age, while some individuals at high risk for fungal infections may develop PcP, a disease that is difficult to diagnose. Insufficient laboratory availability, lack of knowledge, and local epidemiology gaps make the problem more serious. Traditionally, the diagnosis is based on microscopic visualization of Pneumocystis in respiratory specimens. The molecular diagnosis is important but not widely used. The aim of this study was to collect initial indicative data from Serbia, Greece, and Romania concerning pediatric patients with suspected PcP in order to: find the key underlying diseases, determine current clinical and laboratory practices, and try to propose an integrative future molecular perspective based on regional collaboration. Data were collected by the search of literature and the use of an online questionnaire, filled by relevant scientists specialized in the field. All three countries presented similar clinical practices in terms of PcP prophylaxis and clinical suspicion. In Serbia and Greece the hematology/oncology diseases are the main risks, while in Romania HIV infection is an additional risk. Molecular diagnosis is available only in Greece. PcP seems to be under-diagnosed and regional collaboration in the field of laboratory diagnosis with an emphasis on molecular approaches may help to cover the gaps and improve the practices.

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Rowley, Janet D. „DNA Diagnosis in Oncology“. International Journal of Technology Assessment in Health Care 10, Nr. 4 (1994): 644–54. http://dx.doi.org/10.1017/s0266462300008229.

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AbstractOur understanding of the genetic changes that transform normal cells into malignant cells is increasing at a remarkable pace. Some of the changes involve detectable cytogenetic aberrations, whereas others are identifiable only at the molecular level. Many of the structural cytogenetic changes have also been defined molecularly because the genes involved have been cloned. Thus, we are approaching the stage in which the DNA obtained from tumor tissue can be analyzed to detect the presence of a series of chromosomal and molecular alterations. These studies provide important information regarding the precise diagnosis of the tumor type as well as prognostic information about the likely response to therapy and survival.

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Kohva, E., P. J. Miettinen, S. Taskinen, M. Hero, A. Tarkkanen und T. Raivio. „Disorders of sex development: timing of diagnosis and management in a single large tertiary center“. Endocrine Connections 7, Nr. 4 (April 2018): 595–603. http://dx.doi.org/10.1530/ec-18-0070.

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Background We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center. Methods DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts. Results Among the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001). Conclusions Our results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients’ adulthood semen quality and (iii) next-generation sequencing methods are not fully employed in the diagnostics of DSD patients.

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Thomas, Sachdev P., Fadi S. Braiteh, Lauren Jacobson, Anthony R. Victorio, Karen Ann Cherkis, Theresa N. Operana, Nichole Renee Blatner, Brock Schroeder und Catherine A. Schnabel. „Molecular diagnosis with the 92-Gene Assay (92-GA) and decision-impact on treatment: Final results from a prospective, multi-disciplinary study.“ Journal of Clinical Oncology 34, Nr. 4_suppl (01.02.2016): 205. http://dx.doi.org/10.1200/jco.2016.34.4_suppl.205.

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205 Background: Metastatic lesions with unknown or differential diagnoses pose significant challenges leading to suboptimal treatment and outcomes. Molecular diagnosis with the 92-GA has shown improved accuracy compared to IHC and improved survival in pts treated based on assay results. The following prospective, multi-institutional study assessed the utility and impact of the 92-GA in diagnosis and treatment decision-making in community clinical practice. Methods: Over 18 months, physicians (68 medical oncologists, 25 pathologists) completed standardized, discipline-specific questionnaires via a web-based data portal for 444 cases in which the 92-GA was ordered as part of routine clinical care for pts with unknown or differential diagnoses. Physician-reported utility and impact were characterized for oncologists and pathologists. Results: 92-GA molecular diagnoses included 22 different tumor types: pancreaticobiliary (21%), lung squamous (9%), lung adenocarcinoma (9%), and intestinal (9%) were most common. Factors contributing to ordering the 92-GA were interdisciplinary: for oncologists, no primary following clinical review and imaging (42%), pathology report of a differential diagnosis (21%) or unknown primary (20%), and differentiation between a new cancer or recurrence (16%) were most common; for pathologists, IHC inconclusive (50%; median 9 IHC stains) and oncology ordered due to unknown primary (30%) were most common. Oncologists reported that the diagnosis provided by the 92-GA resulted in changing the treatment option in 46% of cases. 75% of pts received therapy with a median time from biopsy to treatment of 25d. Following the 92-GA, predictive biomarkers (eg, EGFR, ALK) were ordered in 81% of cases diagnosed as lung and 67% diagnosed as colorectal cancer. Conclusions: This study demonstrated significant clinical utility of the 92-GA: changing treatment options in approximately half of pts. Clinical utility spanned a spectrum of diagnostic uncertainty for oncologists and pathologists, and helped narrow differential diagnosis. Additional biomarker testing was common after a diagnosis of lung or colorectal cancer was rendered by the 92-GA.

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Basu, Sudarshana, Nirmalya Banerjee, Sourav Kumar Nandi, Soumen Das, Kalpesh Parmar und Soma Mukhopadhyay. „Deregulated molecular genetic pathways in urinary bladder cancer with the importance of molecular biomarkers in diagnosis and follow-up- A comprehensive and updated review“. JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES 11, Nr. 3 (15.09.2021): 96–111. http://dx.doi.org/10.58739/jcbs/v11i3.2.

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Tumpney, Matthew, Betsey John, Nivedha Panneer, R. Paul McClung, Ellsworth M. Campbell, Kathleen Roosevelt, Alfred DeMaria et al. „Human Immunodeficiency Virus (HIV) Outbreak Investigation Among Persons Who Inject Drugs in Massachusetts Enhanced by HIV Sequence Data“. Journal of Infectious Diseases 222, Supplement_5 (02.09.2020): S259—S267. http://dx.doi.org/10.1093/infdis/jiaa053.

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Abstract Background The Massachusetts Department of Public Health and the Centers for Disease Control and Prevention collaborated to characterize a human immunodeficiency virus (HIV) outbreak in northeastern Massachusetts and prevent further transmission. We determined the contributions of HIV sequence data to defining the outbreak. Methods Human immunodeficiency virus surveillance and partner services data were analyzed to understand social and molecular links within the outbreak. Cases were defined as HIV infections diagnosed during 2015–2018 among people who inject drugs with connections to northeastern Massachusetts or HIV infections among other persons named as partners of a case or whose HIV polymerase sequence linked to another case, regardless of diagnosis date or geography. Results Of 184 cases, 65 (35%) were first identified as part of the outbreak through molecular analysis. Twenty-nine cases outside of northeastern Massachusetts were molecularly linked to the outbreak. Large molecular clusters (75, 28, and 11 persons) were identified. Among 161 named partners, 106 had HIV; of those, 40 (38%) diagnoses occurred through partner services. Conclusions Human immunodeficiency virus sequence data increased the case count by 55% and expanded the geographic scope of the outbreak. Human immunodeficiency virus sequence and partner services data each identified cases that the other method would not have, maximizing prevention and care opportunities for HIV-infected persons and their partners.

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MOZAN, HANAA DAAJ KHALAF AL, und NASSIR ABDULLAH ALYOUSIF. „Morphological and Molecular Diagnosis of Ascarislumbricoides Ova Isolated from Soil in Thi-qar Province, Iraq“. Journal of Research on the Lepidoptera 50, Nr. 4 (30.12.2019): 279–89. http://dx.doi.org/10.36872/lepi/v50i4/201091.

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Kadhim Abdul-hussein, Zainab, Rana Hussein Raheema und Ahmed Ibrahim Inssaf. „Molecular Diagnosis of Diarrheagenic E. coli Infections Among the Pediatric Patients in Wasit Province, Iraq“. Journal of Pure and Applied Microbiology 12, Nr. 4 (30.12.2018): 2229–40. http://dx.doi.org/10.22207/jpam.12.4.62.

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Tüzemen, Nazmiye Ülkü, und Nihal Doğan. „Entamoeba histolytica’nın Tanısında Direkt Mikroskopi, Kültür, ELISA ve Moleküler Yöntemlerin Karşılaştırılması*“. Mikrobiyoloji Bulteni 48, Nr. 1 (29.01.2014): 114–22. http://dx.doi.org/10.5578/mb.6795.

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Hwang, Eugene I., Marcel Kool, Peter C. Burger, David Capper, Lukas Chavez, Sebastian Brabetz, Chris Williams-Hughes et al. „Extensive Molecular and Clinical Heterogeneity in Patients With Histologically Diagnosed CNS-PNET Treated as a Single Entity: A Report From the Children’s Oncology Group Randomized ACNS0332 Trial“. Journal of Clinical Oncology 36, Nr. 34 (01.12.2018): 3388–95. http://dx.doi.org/10.1200/jco.2017.76.4720.

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Purpose Children with histologically diagnosed high-risk medulloblastoma, supratentorial primitive neuroectodermal tumor of the CNS (CNS-PNET), and pineoblastoma (PBL) have had poor survival despite intensive treatment. We included these patients in this Children’s Oncology Group trial. Molecular profiling later revealed tumor heterogeneity that was not detectable at protocol inception. Enrollment of patients with CNS-PNET/PBL was subsequently discontinued, and outcomes for this part of the study are reported here. Patients and Methods In this phase III, four-arm prospective trial, consenting children age 3-22 years with newly diagnosed CNS-PNET were randomly assigned (1:1) to receive carboplatin during radiation and/or adjuvant isotretinoin after standard intensive therapy. Primary outcome measure was event-free survival (EFS) in the intent-to-treat population. Molecular tumor classification was retrospectively completed using DNA methylation profiling. Results Eighty-five participants with institutionally diagnosed CNS-PNETs/PBLs were enrolled. Of 60 patients with sufficient tissue, 31 were nonpineal in location, of which 22 (71%) represented tumors that were not intended for trial inclusion, including 18 high-grade gliomas (HGGs), two atypical teratoid rhabdoid tumors, and two ependymomas. Outcomes across tumor types were strikingly different. Patients with supratentorial embryonal tumors/PBLs exhibited 5-year EFS and overall survival of 62.8% (95% CI, 43.4% to 82.2%) and 78.5% (95% CI, 62.2% to 94.8%), respectively, whereas patients with molecularly classified HGG had EFS and overall survival of 5.6% (95% CI, 0% to 13.0%) and 12.0% (95% CI, 0% to 24.7%), respectively. Neither carboplatin, nor isotretinoin significantly altered outcomes for all patients. Survival for patients with HGG was similar to that of historic studies that avoid craniospinal irradiation and intensive chemotherapy. Conclusion For patients with CNS-PNET/PBL, prognosis is considerably better than previously assumed when molecularly confirmed HGGs are removed. Identification of molecular HGGs may spare affected children from unhelpful intensive treatment. This trial highlights the challenges of a histology-based diagnosis for pediatric brain tumors and indicates that molecular profiling should become a standard component of initial diagnosis.

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Suseno, Crisdina, Carlo Prawira Azali, Reynaldo Rahima Putra und Malinda Meinapuri. „DIAGNOSA DINI PADA INFEKSI HIV TIPE 1 DENGAN MENGGUNAKAN TES DOUBLE-DETECT PROTEIN“. Majalah Kedokteran Andalas 38, Nr. 1 (21.03.2015): 41. http://dx.doi.org/10.22338/mka.v38.i1.p41-48.2015.

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AbstrakTujuan yang ingin dicapai dalam penulisan gagasan tertulis ini adalah menjelaskan kajianbiologi molekuler, imunologi dan aspek genetik pada infeksi HIV-1 serta memaparkandiagnosa yang efektif untuk mengetahui infeksi HIV-1 yang dapat diterapkan. Pengumpulandata dan informasi didapatkan melalui buku dan jurnal-jurnal ilmiah hasil penelitian. Datadan informasi yang diverifikasikan lebih lanjut terbatas pada bukti yang menunjukkanjenis-jenis diagnosa HIV-1 dan membuat jenis diagnosa yang lebih efektif. Setelah semuadata yang dibutuhkan terkumpul, dilakukan pengelolaan data dengan menyusun secarasistematis dan logis. Tes Double-detect Protein kemungkinan memiliki keefektifan lebihtinggi dari tes yang mendeteksi antigen p24 ataupun tes yang mendeteksi antibodi.Diagnosa dini pada infeksi HIV merupakan diagnosa yang dapat membantu pendeteksianHIV pada fase awal infeksi hingga sebelum masuknya fase serokonversi. Pada saat inilahtes Double-Detect Protein dapat dilakukan. Namun, perlu dilakukan tes NASBA sebagai followup test.AbstractThe objectives of this writing were to explain the topic of molecular biology,immunology, and the genetic aspect of HIV infection type I. And also to give out a moreeffective diagnose of HIV type I that can be applied. The data and information werecollected from various books and scientific journals resulted from research. Data andinformation was verified further limited to the evidence that shows the types of diagnosesof HIV-1 and created a more effective type of diagnoses. Once all the required datacollected, data management was done by arranging a systematic and logical manner. TheProtein Double-Detect test had the possibility of having a higher effectiveness compared to p24antigen test or antibody detection tests. Early diagnosis of HIV infection is a diagnosis thatcan help the detection of HIV in the early phase of infection prior to the entry phase ofseroconversion. At this time Double-Detect Proteins Test can be done. However, NASBA testsneeded as a follow-up test.

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Yanagi, Masato, Kohei Fukuoka, Yuko Matsushita, Yuko Hibiya, Satoko Honda, Makiko Mori, Yuki Arakawa et al. „RARE-39. MOLECULARLY CONFIRMED ATYPICAL CHOROID PLEXUS PAPILLOMA WITH INTRACRANIAL DISSEMINATION“. Neuro-Oncology 22, Supplement_3 (01.12.2020): iii450—iii451. http://dx.doi.org/10.1093/neuonc/noaa222.749.

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Abstract INTRODUCTION Among choroid plexus tumors (CPTs), metastasis occurs more frequently as pathological grading increases. There could be an underestimation of pathological diagnosis if disseminated CPTs are diagnosed with lower grade tumors such as choroid plexus papilloma (CPP) or atypical choroid plexus papilloma (aCPP). Thus, molecular diagnosis using genome-wide DNA methylation profiling may be useful to clarify malignant potential among thetumor entity. Here, we report about a case of aCPP with intracranial dissemination that was molecularly diagnosed by methylation profiling. CASE DESCRIPTION: A 2-year-old girl presented with a history of vomiting. Brain magnetic resonance imaging showed a large tumor mass in the right lateral ventricle and diffuse enhancement surrounding her brainstem, which suggested dissemination. Gross total resection of the mass was performed. Intraoperative findings revealed multiple spot metastatic lesions on the inner wall of lateral ventricle. The pathological diagnosis was aCPP owing to the presence of a glandular structure with a papillary pattern suggesting a neoplasm of epithelial origin, increased cellularity, several necrotic areas, and an intermediate number of mitoses. The CPT-SIOP-2000 treatment protocol was followed without radiation therapy, and the disseminated lesion was disappeared during the chemotherapy. Methylation data of the current case was entered into a recently published classifier, and the tumor was classified as methylation class “plexus tumor, subclass pediatric A” with high confidence (calibrated score 0.96), which includes cases diagnosed as CPP and aCPPs. CONCLUSION Our case indicates the clinical significance of molecular confirmation of diagnosis among CPTs, particularly lower grade tumors with dissemination.

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Hirose, Takanori. „KNL-1 Pathologic diagnosis of brain tumors in the molecular era“. Neuro-Oncology Advances 2, Supplement_3 (01.11.2020): ii2. http://dx.doi.org/10.1093/noajnl/vdaa143.007.

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Abstract The WHO Classification of CNS Tumors, first published in 1979, was revised four times during the recent four decades. The revision was based on the refinement of tumor entities and introduction of new entities, which were facilitated by the development of new investigative techniques, such as immunohistochemistry and molecular cytogenetics. More sophisticated approaches including NGS and methylation analysis will introduce more molecularly defined entities in the next WHO Classification. The molecular analyses are a very powerful tool for brain tumor research. They have disclosed molecular mechanisms of several tumors and discovered unrecognized tumor entities till then. More precise biologic behavior could be estimated by molecular profiles. Furthermore, the development of novel molecular-targeted therapies will be expected. In the clinical practice, brain tumors should be diagnosed stepwise. First, clinical and image information is mandatory. Histopathologic and immunohistochemical findings should be evaluated within the clinical context. For molecularly defined tumors, genetic analyses are necessary. Following the stepwise procedures, the risk of falling in pit-falls may be decreased. In the molecular era, the integrated diagnosis, combined histopathologic and molecular information, of brain tumors is necessary. Recently, the Japanese Society of Pathology (JSP) has started the project which foster next-generation pathologists interested in rare cancers including brain tumors. In addition, some molecular information could be gained through the consultation system run by JSP and the National Cancer Center Japan. To adapt the next, more detailed molecular classification, it may be necessary that the cancer genome panel test become available within the national health insurance system.

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Moreno-Acosta, Pablo, Alfredo Romero-Rojas, Nicolas Vial, Antonio Huertas, Jinneth Acosta, Diana Mayorga, Schyrly Carrillo et al. „Persistent High-Risk HPV Infection and Molecular Changes Related to the Development of Cervical Cancer“. Case Reports in Obstetrics and Gynecology 2020 (23.07.2020): 1–6. http://dx.doi.org/10.1155/2020/6806857.

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This article is a preliminary investigational study that is aimed at giving hints about the interesting biomarkers involved in the transition process from low-grade cervix lesion to invasive cervical cancer. Our study focuses on the risk factors and tumour molecular changes in one patient. First in 1986, she was diagnosed a preinvasive cervix lesion. Then, 16 years later, she was diagnosed an invasive cervical cancer. The 2002 diagnosis was a squamous cell carcinoma of the cervix, stage IIIB (FIGO), whereas in 1986, she had been diagnosed a high-grade squamous intraepithelial cervical lesion. Retrospectively, the analysis of samples of preneoplastic lesions and invasive cervical cancer confirmed the histopathological diagnoses and detected the presence of HPV type and HPV-16 variants, as well as the overexpression of proteins such as hTERT, IGF1Rα, IGF1Rβ, CAIX, and GLUT1. Finally, the Arg72Pro polymorphism was detected in TP53. The role of high-risk HPV and HPV-16 variants and of hTERT, IGF1Rα, IGF1Rβ, CAIX, and GLUT1 variations seemed confirmed in the development and progression of cervical cancer. As a result, analyzing the molecular changes in one and same tumour that progresses from a low-grade cervix lesion to invasive cervical cancer could provide valuable information in order to improve detection, diagnosis, and treatment in the future.

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Hu, Valerie W. „Subphenotype-Dependent Disease Markers for Diagnosis and Personalized Treatment of Autism Spectrum Disorders“. Disease Markers 33, Nr. 5 (2012): 277–88. http://dx.doi.org/10.1155/2012/835728.

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Autism spectrum disorders (ASD) are a collection of neurodevelopmental disorders that are currently diagnosed solely on the basis of abnormal reciprocal language and social development as well as stereotyped behaviors. Without genetic or molecular markers for screening, individuals with ASD are typically not diagnosed before the age of 2, with milder cases diagnosed much later. Because early diagnosis is tantamount to early behavioral intervention which has been shown to improve individual outcomes, an objective biomarker test that can diagnose at-risk children perinatally is a medical imperative. The rapidly increasing prevalence of ASD in the United States (now estimated at 1 in 88 individuals) also makes early diagnosis and intervention a public health imperative. This article reviews recent genome-wide (genomic) approaches to the identification of disease markers that may be used not only for diagnosis of ASD, but also for the informed development of novel drugs that target specific core symptoms of ASD. Because of the heterogeneity of clinical manifestations associated with the ASD population, this review also addresses the importance of dividing individuals with ASD into clinically relevant subphenotypes in the quest to identify appropriate biomarkers.

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Starykovych, M., S. Souchelnytskyi, O. Fayura, O. Abrahamovych, M. Abrahamovych, N. Lukavetskyy, R. Stoika und Y. Kit. „Identification of cortactin molecular forms in human urine and their possible diagnostic value“. Ukrainian Biochemical Journal 93, Nr. 4 (13.09.2021): 103–10. http://dx.doi.org/10.15407/ubj93.04.103.

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Bernardis, Isabella, Laura Chiesi, Elena Tenedini, Lucia Artuso, Antonio Percesepe, Valentina Artusi, Maria Luisa Simone et al. „Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing“. BioMed Research International 2016 (2016): 1–14. http://dx.doi.org/10.1155/2016/6341870.

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To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP), Leber Congenital Amaurosis (LCA), Stargardt Disease (STGD), Best Macular Dystrophy (BMD), Usher Syndrome (USH), and other IRDs with undefined clinical diagnosis. Participants underwent a complete ophthalmologic examination followed by genetic counseling. A custom AmpliSeq™ panel of 72 IRD-related genes was designed for the analysis and tested using Ion semiconductor Next-Generation Sequencing (NGS). Potential disease-causing mutations were identified in 59.1% of probands, comprising mutations in 16 genes. The highest diagnostic yields were achieved for BMD, LCA, USH, and STGD patients, whereas RP confirmed its high genetic heterogeneity. Causative mutations were identified in 17.6% of probands with undefined diagnosis. Revision of the initial diagnosis was performed for 9.6% of genetically diagnosed patients. This study demonstrates that NGS represents a comprehensive cost-effective approach for IRDs molecular diagnosis. The identification of the genetic alterations underlying the phenotype enabled the clinicians to achieve a more accurate diagnosis. The results emphasize the importance of molecular diagnosis coupled with clinic information to unravel the extensive phenotypic heterogeneity of these diseases.

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Fujioka, Yutaka, Nobuhiro Hata, Yojiro Akagi, Daisuke Kuga, Ryusuke Hatae, Yuhei Sangatsuda, Yuhei Michiwaki et al. „Molecular diagnosis of diffuse glioma using a chip-based digital PCR system to analyze IDH, TERT, and H3 mutations in the cerebrospinal fluid“. Journal of Neuro-Oncology 152, Nr. 1 (08.01.2021): 47–54. http://dx.doi.org/10.1007/s11060-020-03682-7.

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Abstract Purpose Conventional genetic analyzers require surgically obtained tumor tissues to confirm the molecular diagnosis of diffuse glioma. Recent technical breakthroughs have enabled increased utilization of cell-free tumor DNA (ctDNA) in body fluids as a reliable resource for molecular diagnosis in various cancers. Here, we tested the application of a chip-based digital PCR system for the less invasive diagnosis (i.e., liquid biopsy) of diffuse glioma using the cerebrospinal fluid (CSF). Methods CSF samples from 34 patients with diffuse glioma were collected from the surgical field during craniotomy. Preoperative lumbar CSF collection was also performed in 11 patients. Extracted ctDNA was used to analyze diagnostic point mutations in IDH1 R132H, TERT promoter (C228T and C250T), and H3F3A (K27M) on the QuantStudio® 3D Digital PCR System. These results were compared with their corresponding tumor DNA samples. Results We detected either of the diagnostic mutations in tumor DNA samples from 28 of 34 patients. Among them, we achieved precise molecular diagnoses using intracranial CSF in 20 (71%). Univariate analyses revealed that the World Health Organization (WHO) grade (p = 0.0034), radiographic enhancement (p = 0.0006), and Mib1 index (p = 0.01) were significant predictors of precise CSF-based molecular diagnosis. We precisely diagnosed WHO grade III or IV diffuse gliomas using lumbar CSF obtained from 6 (87%) of 7 patients with tumors harboring any mutation. Conclusion We established a novel, non-invasive molecular diagnostic method using a chip-based digital PCR system targeting ctDNA derived from CSF with high sensitivity and specificity, especially for high-grade gliomas.

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Brenner, Andrew, Raul Collazo, Catherine Schnabel und Anthony Greco. „OTHR-16. MOLECULAR PROFILING USING THE 92-GENE ASSAY FOR TUMOR CLASSIFICATION OF BRAIN METASTASES“. Neuro-Oncology Advances 1, Supplement_1 (August 2019): i21. http://dx.doi.org/10.1093/noajnl/vdz014.093.

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Abstract BACKGROUND: Nearly 200,000 patients are diagnosed with brain metastases in the US annually. Advances in targeted therapies make definitive diagnosis of the primary tumor type important but can be challenging in many patients. The 92-gene assay is a validated gene expression classifier of 50 tumor types for patients with uncertain tissue of origin diagnoses. Results from a clinical series of brain biopsies and potential impact on treatment were evaluated. METHODS: An IRB approved, de-identified database of clinical and molecular information from biopsies (N = 24,486) submitted for testing with the 92-gene assay (CancerTYPE ID, Biotheranostics, Inc.) as part of routine care were reviewed. Descriptive analysis included patient demographics and molecular diagnoses. RESULTS: Analysis included 464 brain biopsies. A molecular diagnosis was provided in 433 (93.3%) tested (< 5% assay failure rate) with 24 different tumor types. Six primary tumor types made up the majority (67.4%) with almost one-third of the molecular predictions being Lung (31.2%), followed by Neuroendocrine (NET) (9.9%), Sarcoma (7.9%), Skin (6.4%), Gastroesophageal (6.2%), and Urinary bladder (5.8%). All of these 6 tumor types, for which activity in the CNS has been documented, have immune checkpoint inhibitors or other targeted therapies approved in selected cases by the US Federal Drug Administration (FDA). CONCLUSIONS: Molecular classification of brain metastases can identify distinct tumor types for which there are FDA approved targeted medications. Improving diagnostic precision with the 92-gene assay helps identify a subset of therapy-responsive metastatic brain tumors, thus improving therapy and possibly providing better outcomes and survival.

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Brenner, Andrew Jacob, Raul Collazo, Catherine A. Schnabel und F. Anthony Greco. „Molecular profiling using the 92-gene assay for tumor classification of brain metastases.“ Journal of Clinical Oncology 37, Nr. 15_suppl (20.05.2019): e13583-e13583. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13583.

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e13583 Background: Nearly 200,000 patients are diagnosed with brain metastases in the US annually. Advances in targeted therapies make definitive diagnosis of the primary tumor type important but can be challenging in many patients. The 92-gene assay is a validated gene expression classifier of 50 tumor types/subtypes for patients with uncertain diagnoses. Results from a clinical series of brain biopsies and potential impact on treatment were evaluated. Methods: An IRB-approved, de-identified database of clinical and molecular information from biopsies (N = 24,486) submitted for testing with the 92-gene assay (CancerTYPE ID, Biotheranostics, Inc.) as part of routine care were reviewed. Descriptive analysis included patient demographics and molecular diagnoses. Results: Analysis included 464 brain biopsies. A molecular diagnosis was provided in 433 (93.3%) tested ( < 5% assay failure rate) with 24 different tumor types. Six primary tumor types made up the majority (67.4%) with almost one-third of the molecular predictions being Lung (31.2%), followed by Neuroendocrine (NET) (9.9%), Sarcoma (7.9%), Skin (6.4%), Gastroesophageal (6.2%), and Urinary bladder (5.8%). All of these 6 tumor types, for which activity in the CNS has been documented, have immune checkpoint inhibitors or other targeted therapies approved in selected cases by the US Federal Drug Administration (FDA) (Table). Conclusions: Molecular classification of brain metastases can identify distinct tumor types for which there are FDA approved targeted medications. Improving diagnostic precision with the 92-gene assay helps identify a subset of therapy-responsive metastatic brain tumors, thus improving therapy and possibly providing better outcomes and survival. [Table: see text]

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Montalvo, Nelson, David Galarza und Ligia Redrobán. „Secretory Carcinoma of the Parotid: Making the Correct Diagnosis of a Rare Salivary Gland Carcinoma When Molecular Biology Testing Is Not Available“. Case Reports in Pathology 2019 (17.03.2019): 1–7. http://dx.doi.org/10.1155/2019/5103496.

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Secretory carcinoma (SC) is a recently described entity occurring in the salivary glands. Before its description, SC was frequently classified as acinic cell carcinoma (ACC) or adenocarcinoma, not otherwise specified. Its particular histopathological and immunohistochemical characteristics are reminiscent of breast secretory carcinoma. Moreover, it displays a characteristic t(12;15) (p13;q25) translocation that results in the ETV6-NTRK3 gene fusion. This translocation has not been reported in any other salivary gland carcinoma. Identification of the t(12;15) (p13;q25) translocation is the gold standard for diagnosis, although some cases that do not present this specific translocation have already been reported. In such cases, diagnosis is challenging. In addition, some diagnostic pathology laboratories lack the resources to perform the molecular analysis to diagnose SC. In this scenario, morphology and immunohistochemistry are fundamental. Therefore, we report a case emphasizing the typical morphology of SC and its immunochemical profile to establish a final diagnosis without molecular biology tests. This case aims to demonstrate the importance of recognizing the typical presentation of a rare tumor so that clinicians will be informed or reminded of it and consider this entity among the differential diagnoses, when necessary. Moreover, in low-resource settings where molecular analysis is not available, being familiar enough with the histology of this tumor and using the immunoprofile as a key tool for differential diagnosis would be of great importance in establishing the correct diagnosis. The differential diagnosis includes, above all, acinic cell carcinoma and other salivary neoplasms such as intraductal carcinoma, low-grade mucoepidermoid carcinoma, and adenocarcinoma, not otherwise specified, which is actually a rule-out diagnosis.

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Paster, Bruce J., und Floyd E. Dewhirst. „Molecular microbial diagnosis“. Periodontology 2000 51, Nr. 1 (Oktober 2009): 38–44. http://dx.doi.org/10.1111/j.1600-0757.2009.00316.x.

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Durand-Joly, Isabelle, Magali ChabÃ©, Fabienne Soula, Laurence Delhaes, Daniel Camus und Eduardo Dei-Cas. „Molecular diagnosis ofPneumocystispneumonia“. FEMS Immunology & Medical Microbiology 45, Nr. 3 (September 2005): 405–10. http://dx.doi.org/10.1016/j.femsim.2005.06.006.

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Li, Bryan K., Peter Burger, Alexander R. Judkins, Ben L. B. Ho, Guolian Kang, Jeffrey Gossett, Sarah Leary et al. „PATH-24. MOLECULAR CLASSIFICATION OF HIGH RISK INFANT EMBRYONAL BRAIN TUMORS ENROLLED IN THE ACNS0334 TRIAL: A REPORT FROM THE CHILDREN’S ONCOLOGY GROUP“. Neuro-Oncology 22, Supplement_3 (01.12.2020): iii429. http://dx.doi.org/10.1093/neuonc/noaa222.659.

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Abstract Young children with embryonal brain tumors including medulloblastoma (MB), supratentorial primitive neuro-ectodermal tumor, or pineoblastoma have historically been considered high-risk patients with poor outcomes despite the use of intensive radiation-sparing treatment. In the ACNS0334 phase III trial, 91 consented children <36 months old with the above diagnoses were randomized to intensive induction chemotherapy with or without methotrexate followed by consolidation with stem cell rescue. Here we present the results of a centralized integrated molecular analysis including global methylation profiling (65/91), and whole exome sequencing of tumor (46/91) and germline (35/91) DNA. Unsupervised clustering analyses of methylation profiles using multiple orthogonal methods against a reference dataset of 1200 pediatric brain tumors, revealed known and new molecular entities. For tumors diagnosed as MB on central pathology review, 7.3% (3/41) had a non-MB molecular diagnosis (2 embryonal tumor with multiple rosettes/ETMR, 1 group MYC pineoblastoma), with the remainder as MB Group SHH (11/41), Group3 (25/41), and Group4 (2/41). Among histologic non-MBs, 3/24 (12.5%) were molecular entities not intended for trial inclusion (1 each for ATRT, pleomorphic xanthoastrocytoma, and high-grade glioma). ETMR, historically considered a rare entity, was molecularly identified in a significant proportion (14/65; 21.5%) of samples. Among MB-SHH, we detected deleterious PTCH1 mutations in 6/9 tumors but none among 5 germline samples tested; a germline SUFU frameshift mutation with tumor LOH was also observed in MB-SHH. Correlation of these and other molecular features to the parallel clinical analysis will yield important markers of risk stratification and predictors of treatment response.

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Fariña, Norma, Margarita Samudio, Carolina Duré, Yolanda López, Sonia Abente, Rosa Guillén und Julio Barrios. „Diagnóstico de endoftalmitis por método microbiológico convencional y molecular en pacientes de centros oftalmológicos de Paraguay“. Memorias del Instituto de Investigaciones en Ciencias de la Salud 17, Nr. 2 (01.08.2019): 77–85. http://dx.doi.org/10.18004/mem.iics/1812-9528/2019.017.02.77-085.

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