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Molecular Diagnosis

Philipp Kickingereder, Ovidiu Cristian Andronesi
Magnetic resonance imaging plays a key role in diagnosis and treatment monitoring of brain tumors. Novel imaging techniques that specifically interrogate aspects of underlying tumor biology and biochemical pathways have great potential in neuro-oncology. This review focuses on the emerging role of 2-hydroxyglutarate-targeted magnetic resonance spectroscopy, as well as radiomics and radiogenomics in establishing diagnosis for isocitrate dehydrogenase mutant gliomas, and for monitoring treatment response and predicting prognosis of this group of brain tumor patients...
February 2018: Seminars in Neurology
Andrew McDowell, Neeraj Raizada, Sunil D Khaparde, Raghuram Rao, Sanjay Sarin, Aakshi Kalra, Virender Singh Salhotra, Sreenivas Achuthan Nair, Catharina Boehme, Claudia M Denkinger
BACKGROUND: Diagnosing tuberculosis (TB) in children presents considerable challenges. Upfront testing on Xpert® MTB/RIF ('Xpert')-a rapid molecular assay with high sensitivity and specificity-for pediatric presumptive TB patients, as recommended by India's Revised National Tuberculosis Control Program (RNTCP), can pave the way for early TB diagnosis. As part of an ongoing project implemented by Foundation for Innovative New Diagnostics (FIND) dedicated to providing upfront free-of-cost (FOC) Xpert testing to children seeking care in the public and private sectors, a qualitative assessment was designed to understand how national guidelines on TB diagnosis and Xpert technology have been integrated into the pediatric TB care practices of different health providers...
2018: PloS One
Deepali Jain, Sinchita Roy-Chowdhuri
CONTEXT: - There has been a paradigm shift in the understanding of molecular pathogenesis of lung cancer. A number of oncogenic drivers have been identified in non-small cell lung carcinoma, such as the epidermal growth factor receptor ( EGFR) mutation and anaplastic lymphoma kinase ( ALK) gene rearrangement. Because of the clinical presentation at an advanced stage of disease in non-small cell lung carcinoma patients, the use of minimally invasive techniques is preferred to obtain a tumor sample for diagnosis...
March 16, 2018: Archives of Pathology & Laboratory Medicine
Hironori Aoki, Eiichiro Yamamoto, Hiro-O Yamano, Tamotsu Sugai, Tomoaki Kimura, Yoshihito Tanaka, Hiro-O Matsushita, Kenjiro Yoshikawa, Ryo Takagi, Eiji Harada, Michiko Nakaoka, Yuko Yoshida, Taku Harada, Gota Sudo, Makoto Eizuka, Akira Yorozu, Hiroshi Kitajima, Takeshi Niinuma, Masahiro Kai, Masanori Nojima, Hiromu Suzuki, Hiroshi Nakase
BACKGROUND: Colorectal serrated lesions (SLs) are important premalignant lesions whose clinical and biological features are not fully understood. AIMS: We aimed to establish accurate colonoscopic diagnosis and treatment of SLs through evaluation of associations among the morphological, pathological, and molecular characteristics of SLs. METHODS: A total of 388 premalignant and 18 malignant colorectal lesions were studied. Using magnifying colonoscopy, microsurface structures were assessed based on Kudo's pit pattern classification system, and the Type II pit pattern was subcategorized into classical Type II, Type II-Open (Type II-O) and Type II-Long (Type II-L)...
March 15, 2018: Digestive Diseases and Sciences
Ari Rosenberg, Mark Agulnik
Epithelioid hemangioendothelioma (EHE) is an extremely rare sarcoma, as such it can pose a clinical dilemma based solely on its rarity. Also, the spectrum of disease varies greatly between an indolent disease and aggressive disease with widespread metastases. In our clinical practice, the primary focus has been to get a handle on the aggressive nature of the disease, which will then dictate how urgently one needs to treat the patient. Pathological review with immunohistochemistry and molecular characterization is paramount...
March 15, 2018: Current Treatment Options in Oncology
Xiangfeng Wang, Hu Fang, Yong Cheng, Lin Li, Xiaohui Sun, Tao Fu, Peide Huang, Anping Zhang, Zhimin Feng, Chunxue Li, Xuanlin Huang, Guangyan Li, Peina Du, Huanming Yang, Xiaodong Fang, Fan Li, Qiang Gao, Baohua Liu
Synchronous colorectal cancers (syCRCs), which present two or more lesions at diagnosis, are rare and pose a great challenge for clinical management. Although some predisposing factors associated with syCRCs have been studied with limited accession, the full repertoire of genomic events among the lesions within an individual and the causes of syCRCs remain unclear. We performed whole-exome sequencing of 40 surgical tumour samples of paired lesions from 20 patients to characterize the genetic alterations. Lesions from same patient showed distinct landscapes of somatic aberrations and shared few mutations, which suggests that they originate and develop independently although they shared the similar genetic background...
March 13, 2018: Carcinogenesis
Giuseppa Patti, Marta Giaccardi, Valeria Capra, Flavia Napoli, Giuliana Cangemi, Sara Notarnicola, Sara Guzzetti, Silvia Russo, Mohamad Maghnie, Natascia Di Iorgi
Context: There is little information on long-term natural history of Silver-Russell syndrome (SRS). Objective: To describe the phenotypes and the metabolic status in adults with SRS. Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS. Partecipants: 7Caucasian patients (aged 18 to 46 years, mean age 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, 3 had 11p15 loss of methylation and 2 had 11p15 duplication...
March 13, 2018: Journal of Clinical Endocrinology and Metabolism
Qiong Wu, Huan Zhang, Jia-Rong Ding, Zhan-Ying Hong, Hao Wu, Zhen-Yu Zhu, Zhi-Yong Guo, Yi-Feng Chai
As one of the most troublesome complications in patients with chronic renal disease, the etiology of uremic pruritus remains unknown, and the current therapeutic approaches are limited and unsatisfactory. To identify potential biomarkers for improving diagnosis and treatment and obtain a better understanding of the pathogenesis of uremic pruritus, we compared serum metabolome profiles of severe uremic pruritus (HUP) patients with mild uremic pruritus (LUP) patients using ultraperformance liquid chromatography-quadruple time-of-flight mass spectrometry (UPLC-QTOF MS)...
2018: BioMed Research International
Muhammad Khairi Ahmad, Nur Ainina Abdollah, Nurul Husna Shafie, Narazah Mohd Yusof, Siti Razila Abdul Razak
Mitogen-activated protein kinases (MAPKs) are the main regulators of cellular proliferation, growth, and survival in physiological or pathological conditions. Aberrant MAPK signaling plays a pivotal role in carcinogenesis, which leads to development and progression of human cancer. Dual-specificity phosphatase 6 (DUSP6), a member of the MAPK phosphatase family, interacts with specifically targeted extracellular signal-regulated kinase 1/2 via negative feedback regulation in the MAPK pathway of mammalian cells...
February 2018: Cancer Biology & Medicine
Zhong Ni, Xiting Wang, Tianchen Zhang, Linlin Li, Jianxue Li
Small cell lung cancer (SCLC) is the subtype of lung cancer with the highest degree of malignancy and the lowest degree of differentiation. The purpose of this study was to investigate the molecular mechanisms of SCLC using bioinformatics analysis, and to provide new ideas for the early diagnosis and targeted therapy of SCLC. Microarray data were downloaded from Gene Expression Omnibus. Differentially expressed genes (DEGs) in SCLC were compared with the normal lung samples and identified. Gene Ontology (GO) function and pathway analysis of DEGs was performed through the DAVID database...
April 2018: Experimental and Therapeutic Medicine
Chuan-Xing Li, Craig E Wheelock, C Magnus Sköld, Åsa M Wheelock
Rationale: COPD represents an umbrella diagnosis caused by a multitude of underlying mechanisms, and molecular sub-phenotyping is needed to facilitate the development of molecular diagnostic/prognostic tools and efficacious treatments. Objectives: To investigate whether multi-omics integration improves the accuracy of molecular classification of COPD in small cohorts. Measurements and Results: Nine omics data-blocks (mRNA, miRNA, proteomes, metabolomes) collected from several anatomical locations from 52 female subjects were integrated by similarity network fusion (SNF)...
March 15, 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
D Mata-Mbemba, M Zapotocky, S Laughlin, M D Taylor, V Ramaswamy, C Raybaud
BACKGROUND AND PURPOSE: Molecular grouping of medulloblastoma correlates with prognosis and supports the therapeutic strategy. We provide our experience with the imaging features of primary and metastatic disease in relation to the molecular groups. MATERIALS AND METHODS: One hundred nineteen consecutive patients (mean age, 7.3 ± 3.8 years at diagnosis; male, 79 [66.4%]) with a confirmed diagnosis of medulloblastoma and interpretable pretreatment MRIs were retrieved from our data base from January 2000 to December 2016...
March 15, 2018: AJNR. American Journal of Neuroradiology
S Dolatabadi, B Ahmadi, A Rezaei-Matehkolaei, H Zarrinfar, A Skiada, H Mirhendi, R Nashibi, F Niknejad, M Nazeri, A Rafiei, M Gharaghani, M Erami, S Taghipour, F Piri, K Makimura
Mucormycosis is a devastating infection caused by Mucoralean fungi (Mucormycotina, Mucorales). Data concerning the global epidemiology of mucormycosis are scarce and little is known about the characteristics of mucormycosis in Iran. In this study, we aimed to understand the distribution of this infection in Iran retrospectively and to ascertain whether the patterns of infection are associated with specific host factors or not. A total of 208 cases were included in this study occurring during 2008-2014 and were validated according to (EORTC/MSG) criteria...
March 12, 2018: Journal de Mycologie Médicale
Adrian Galiana-Simal, Victoria Muñoz-Martinez, Paloma Calero-Bueno, Maria Vela-Romero, Luis Beato-Fernandez
Autism spectrum disorder diagnosis is currently based on clinical observations and behavioral evaluations exclusively, without any biological determination. Molecular biomarkers are usually obtained from biological fluids, such as blood or urine, generally through invasive and uncomfortable procedures. Patients with autism are characterized by sensory reactivity and behavioral difficulties which make sample collection problematic. Saliva has emerged as a feasible alternative to obtain relevant biological information and is especially indicated in the case of children with autism due to its painless and noninvasive sampling characteristics...
March 12, 2018: International Journal of Developmental Neuroscience
Alessandra Balduini, Hana Raslova, Christian A Di Buduo, Alessandro Donada, Matthias Ballmaier, Manuela Germeshausen, Carlo L Balduini
Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet count resulting in impaired hemostasis. Patients can have spontaneous hemorrhages and/or excessive bleedings provoked by hemostatic challenges as trauma or surgery. To date, ITs encompass 32 different rare monogenic disorders caused by mutations of 30 genes. This review will focus on the major discoveries that have been made in the last years on the diagnosis, treatment and molecular mechanisms of ANKRD26-Related Thrombocytopenia and MYH9-Related Diseases...
March 12, 2018: European Journal of Medical Genetics
Hanane Eddaoualline, Khadija Mazouz, Bouchra Rafiq, Ghizlane El Mghari Tabib, Nawal El Ansari, Rhizlane Belbaraka, Abdelhamid El Omrani, Mouna Khouchani
BACKGROUND: Ewing sarcoma/primitive neuroectodermal tumor is a family of highly malignant proliferation of neuroectodermal origin, most often skeletal, adrenal localization is extremely rare. Only few cases have been reported in the literature. Classical management includes radical surgery with adjuvant chemotherapy or radiotherapy or both. This case report is the only one where recurrence was surgically removed, and it confirms the importance of adjuvant treatment, and the efficacy of neoadjuvant chemotherapy...
March 16, 2018: Journal of Medical Case Reports
Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
Simone B S P Terra, Scott W Aesif, Joseph J Maleszewski, Andrew L Folpe, Jennifer M Boland
Synovial sarcoma (SS), a translocation-associated sarcoma characterized by SS18-SSX1/2 fusion, presents most often in the extremities of young adults. While SS regularly occurs in the pleuropulmonary parenchyma, the mediastinum is an exceedingly rare primary site; the literature on this subject is predominantly composed of case reports and small series, mostly without molecular confirmation. Cases of mediastinal SS were selected from our institutional and consultation archives. Diagnoses were confirmed by either SS18 fluorescence in situ hybridization (n=6) or reverse transcription polymerase chain reaction for SS18-SSX1/2 (n=15)...
March 14, 2018: American Journal of Surgical Pathology
Jennifer Karmouch, Alexandros Protonotarios, Petros Syrris
PURPOSE OF REVIEW: To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM...
March 14, 2018: Current Opinion in Cardiology
Fatemeh Faraji, Nader Tajik, Mahdi Behdani, Mohammad Ali Shokrgozar, Amir Hassan Zarnani, Fatemeh Shahhosseini, Mahdi Habibi-Anbouhi
CD22 is a B-cell-specific trans-membrane glycoprotein which is found on the surface of the most B-cells and modulates their function, survival, and apoptosis. Recently, targeting this cell surface biomarker in B-cell malignancies and disorders has attracted a lot of attention. The variable domain of camelid single chain antibodies (VHH, Nanobody) is a form of antibodies with novel properties including small size (15-17 kDa), thermal and chemical stability, high affinity and homology to human antibody sequences...
March 15, 2018: Biotechnology and Applied Biochemistry
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