151,936 results match your criteria Molecular Diagnosis & Therapy[Journal]


Multiplatform metabolomics provides insight into the molecular basis of chronic kidney disease.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Apr 3;1117:49-57. Epub 2019 Apr 3.

Department of Biopharmaceutics and Pharmacodynamics, Medical University of Gdańsk, Gdańsk, Poland. Electronic address:

Changes in metabolites composition can reflect currently present pathological processes in a living organism and constitute a basis for diagnosis and treatment improvements. Thus, the multiplatform metabolomics approach was applied for the investigation of molecular mechanisms of chronic kidney disease (CKD) progression. The high-performance liquid chromatography coupled with time-of-flight mass spectrometry (HPLC-TOF-MS) and gas chromatography coupled with triple quadrupole mass spectrometry (GC-QqQ/MS) serum metabolic fingerprinting followed by uni- and multivariate statistical analysis was carried out to determine metabolic pattern differentiating CKD patients and healthy controls. Read More

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http://dx.doi.org/10.1016/j.jchromb.2019.04.003DOI Listing

Detection of anti-Trypanosoma cruzi antibodies by chimeric antigens in chronic Chagas disease-individuals from endemic South American countries.

PLoS One 2019 18;14(4):e0215623. Epub 2019 Apr 18.

Gonçalo Moniz Institute, Oswaldo Cruz Foundation, Salvador, Bahia, Brazil.

Background: Laboratory diagnosis of chronic Chagas disease is a troubling factor due to lack of reference tests. The WHO suggests the use of two distinct commercial serological tests in parallel. The performance of commercial immunoassays might fluctuate depending on the antigenic matrices and the local strains of T. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215623PLOS

Circulating Endothelial Cells From Septic Shock Patients Convert to Fibroblasts Are Associated With the Resuscitation Fluid Dose and Are Biomarkers for Survival Prediction.

Crit Care Med 2019 Apr 15. Epub 2019 Apr 15.

Departamento de Ciencias Biologicas, Facultad de Ciencias de la Vida, Universidad Andres Bello, Santiago, Chile.

Objectives: To determine whether circulating endothelial cells from septic shock patients and from nonseptic shock patients are transformed in activated fibroblast by changing the expression level of endothelial and fibrotic proteins, whether the level of the protein expression change is associated with the amount of administered resuscitation fluid, and whether this circulating endothelial cell protein expression change is a biomarker to predict sepsis survival.

Design: Prospective study.

Setting: Medical-surgical ICUs in a tertiary care hospital. Read More

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http://dx.doi.org/10.1097/CCM.0000000000003778DOI Listing

Building Quantitative Structure-Activity Relationship Models Using Bayesian Additive Regression Trees.

J Chem Inf Model 2019 Apr 18. Epub 2019 Apr 18.

Quantitative structure-activity relationship (QSAR) is a very commonly used technique for predicting biological activity of a molecule using information contained in the molecular descriptors. The large number of compounds and descriptors and sparseness of descriptors pose important challenges to traditional statistical methods and machine learning (ML) algorithms (such as random forest (RF)) used in this field. Recently, Bayesian Additive Regression Trees (BART), a flexible Bayesian non-parametric regression approach, has been demonstrated to be competitive with widely used ML approaches. Read More

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http://pubs.acs.org/doi/10.1021/acs.jcim.9b00094
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http://dx.doi.org/10.1021/acs.jcim.9b00094DOI Listing
April 2019
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Screening Therapeutic Agents Specific to Breast Cancer Stem Cells Using a Microfluidic Single-Cell Clone-Forming Inhibition Assay.

Small 2019 Apr 18:e1901001. Epub 2019 Apr 18.

Department of Laboratory Medicine, Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou, 510180, China.

Screens of cancer stem cells (CSCs)-specific agents present significant challenges to conventional cell assays due to the difficulty in preparing CSCs ready for drug testing. To overcome this limitation, developed is a microfluidic single-cell assay for screening breast cancer stem cell-specific agents. This assay takes advantage of the single-cell clone-forming capability of CSCs, which can be specifically inhibited by CSC-targeting agents. Read More

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http://dx.doi.org/10.1002/smll.201901001DOI Listing

[Clinical Characteristics of Patients with Ph Mixed Phenotype Acute Leukemia].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Apr;27(2):354-359

Blood Diseases Hospital, Institute of Hematology, Chinese Academy of Medical Sciences, Peking Union Medical College, Tianjin 300020

Objective: To investigate the clinical biological characteristics and prognosis of the patients with mixed phenotype acute leukemia with t(9;22)(q34;q11.2) and/or BCRABL1 (Ph MPAL).

Methods: The morphological, immunological, cytogenetic, and molecular features of 33 in patients with Ph MPAL were retrospectively analyzed in our center from June 2002 to June 2016 according to the scoring proposal of European Group for the Classification of Acute Leukemia(EGIL )1998 and WHO 2008 criteria. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.02.007DOI Listing

Altered miR-21, miRNA-148a Expression in Relation to KRAS Mutation Status as Indicator of Adenoma-Carcinoma Transitional Pattern in Colorectal Adenoma and Carcinoma Lesions.

Biochem Genet 2019 Apr 17. Epub 2019 Apr 17.

Colorectal Cancer Research Center and Department of Biochemistry, Shiraz University of Medical Sciences, P.O Box 1167, Shiraz, Iran.

Sporadic colorectal cancer (CRC) is a fatal disease, mostly known as the silent killer, due to the fact that this disease is asymptomatic before diagnosis in advanced stage. Screening and the early detection of CRC and colorectal adenoma (CRA) by non-aggressive molecular biomarkers' signature is useful for improvement of survival rate in CRC patients. To achieve such a goal, a better understanding of distinct molecular abnormalities as candidate biomarkers in CRC development is crucial. Read More

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http://dx.doi.org/10.1007/s10528-019-09918-0DOI Listing

[Pituitary adenomas].

Nervenarzt 2019 Apr 17. Epub 2019 Apr 17.

Klinik für Neurochirurgie, Universitätsklinikum Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Deutschland.

Despite characteristic symptoms the diagnosis of clinically relevant pituitary adenomas is often delayed until an advanced stage due to the rarity of the disease. The typical clinical manifestations are presented in this review article. The recent discovery of the USP8 mutation in Cushing's disease and of X‑linked acrogigantism (X-LAG) syndrome in early onset gigantism were milestones in the search for the molecular etiology of pituitary adenomas. Read More

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http://link.springer.com/10.1007/s00115-019-0708-4
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http://dx.doi.org/10.1007/s00115-019-0708-4DOI Listing
April 2019
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Inverted papilloma of the conjunctiva.

BMJ Open Ophthalmol 2019 28;4(1):e000193. Epub 2019 Feb 28.

Department of Pathology, Section for Eye Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Objective: The purpose of the present study is to describe the clinical and histopathological features of conjunctival inverted papilloma, to analyse for the presence of human papillomavirus (HPV), and to determine if HPV infection is associated with this type of tumour and its inverted growth pattern.

Methods And Analysis: Cases of conjunctival inverted papillomas were retrieved from the archives of the Department of Pathology, Rigshospitalet, Denmark. Patient records and pathology reports were reviewed. Read More

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http://dx.doi.org/10.1136/bmjophth-2018-000193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440594PMC
February 2019

Remote login software and other innovations to enhance scale-up of point-of-care HPV testing in high-burden, low-income settings.

Authors:
Steven Badman

J Virus Erad 2019 Mar 4;5(Suppl 1):4-5. Epub 2019 Mar 4.

Kirby Institute, University of New South Wales, Sydney, Australia.

Molecular diagnosis of HPV at the point of care (POC) is an important technological development because the highest rates of HPV infection are often found in low-resource settings (LRS) or very remote locations in high-resource settings (HRS). The burden of HPV-related morbidity and mortality in LRS is high and requires immediate action in order to be contained or eliminated. However, accurate estimates of prevalence and risk factors are not available in many countries, and current HPV testing capacity varies considerably. Read More

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Development of heart failure in young patients with congenital heart disease: a nation-wide cohort study.

Open Heart 2019 25;6(1):e000858. Epub 2019 Mar 25.

Department of Molecular and Clinical Medicine, Goteborgs universitet Sahlgrenska Akademin, Goteborg, Sweden.

Objective: Heart failure (HF) is a common cause of hospitalisation and death in adults with congenital heart disease (CHD). However, the risk of HF in young patients with CHD has not been determined.

Methods: By linkage of national patient registers in Sweden, we identified 21 982 patients with CHD born between 1970 and 1993, and compared these with 10 controls per case. Read More

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http://dx.doi.org/10.1136/openhrt-2018-000858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443131PMC

Activatable near-infrared emission-guided on-demand administration of photodynamic anticancer therapy with a theranostic nanoprobe.

Chem Sci 2019 Mar 9;10(9):2785-2790. Epub 2019 Jan 9.

Key Laboratory for Advanced Materials and Institute of Fine Chemicals , School of Chemistry and Molecular Engineering , East China University of Science & Technology , Shanghai 200237 , P. R. China . Email:

Development of theranostic probes that can be used to identify tumors and direct the on-demand drug administration to cancers is ongoing but remains challenging. Herein, we report a theranostic platform composed of a HS-activated imaging probe and a light-sensitive drug. The designed probe affords advantages of HS-activated NIR emission light-up and efficient O generation, enabling the selective visualization of HS-rich cancers and the subsequent imaging-directed on-demand light exposure to the detected cancers while leaving normal tissues untouched. Read More

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http://dx.doi.org/10.1039/c8sc04854aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419941PMC

Facile synthesis of AIEgens with wide color tunability for cellular imaging and therapy.

Chem Sci 2019 Mar 22;10(12):3494-3501. Epub 2019 Feb 22.

Hong Kong Branch of Chinese National Engineering Research Center for Tissue Restoration and Reconstruction , Department of Chemistry , Institute of Molecular Functional Materials , State Key Laboratory of Neuroscience , Division of Biomedical Engineering , Division of Life Science , The Hong Kong University of Science and Technology , Clear Water Bay , Kowloon , Hong Kong , China . Email:

Luminogens with aggregation-induced emission (AIE) characteristics are nowadays undergoing explosive development in the fields of imaging, process visualization, diagnosis and therapy. However, exploration of an AIE luminogen (AIEgen) system allowing for extremely wide color tunability remains challenging. In this contribution, the facile synthesis of triphenylamine (TPA)-thiophene building block-based AIEgens having tunable maximum emission wavelengths covering violet, blue, green, yellow, orange, red, deep red and NIR regions is reported. Read More

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http://dx.doi.org/10.1039/c8sc05805aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432335PMC

Programmable intracellular DNA biocomputing circuits for reliable cell recognitions.

Chem Sci 2019 Mar 15;10(10):2989-2997. Epub 2019 Jan 15.

Key Laboratory of Analytical Chemistry for Biology and Medicine (Ministry of Education) , College of Chemistry and Molecular Sciences , Wuhan University , Wuhan , P. R. China . Email:

Dynamic nucleic acid-based biocircuits have spurred substantial research efforts for diagnosis or biomedical applications at the molecular level; nevertheless, it still remains a challenge to design programmable molecular circuit devices for autonomous and accurate diagnosis of low abundance biomolecules in a complex intracellular environment. Herein, a reconfigurable hybridization-based chain reaction is introduced to assemble modular biocomputing circuits that include a general sensing module and a versatile processing module. By modular sensing module design, we realized multiple endogenous miRNA-initiated biocomputing operations, including binary logic gates (OR, AND, INHIBIT and XOR), and more advanced concatenated logic circuits (XOR-AND, XOR-INHIBIT, and XOR-OR) in different living cells. Read More

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http://dx.doi.org/10.1039/c8sc05217dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427941PMC

Spectrum of mutations in the gene in Vietnamese patients with retinoblastoma.

Mol Vis 2019 4;25:215-221. Epub 2019 Apr 4.

Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Purpose: Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of the gene. Early diagnosis and identification of carriers of heritable mutations in can improve disease outcome and management. In this study, we present the spectrum of mutations in the gene in Vietnamese patients with RB. Read More

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Targeting LIF-mediated paracrine interaction for pancreatic cancer therapy and monitoring.

Nature 2019 Apr 17. Epub 2019 Apr 17.

Molecular and Cell Biology Laboratory, Salk Institute for Biological Studies, La Jolla, CA, USA.

Pancreatic ductal adenocarcinoma (PDAC) has a dismal prognosis largely owing to inefficient diagnosis and tenacious drug resistance. Activation of pancreatic stellate cells (PSCs) and consequent development of dense stroma are prominent features accounting for this aggressive biology. The reciprocal interplay between PSCs and pancreatic cancer cells (PCCs) not only enhances tumour progression and metastasis but also sustains their own activation, facilitating a vicious cycle to exacerbate tumorigenesis and drug resistance. Read More

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http://dx.doi.org/10.1038/s41586-019-1130-6DOI Listing

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Sci Rep 2019 Apr 17;9(1):6234. Epub 2019 Apr 17.

Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas. Tessália Vieira de Camargo, 126, Barão Geraldo, Cidade Universitária Zeferino Vaz, CEP: 13083-887, Campinas, São Paulo, Brazil.

Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants through in 8 silico tools. Read More

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http://dx.doi.org/10.1038/s41598-019-42404-6DOI Listing

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet J Rare Dis 2019 Apr 17;14(1):82. Epub 2019 Apr 17.

Instituto de Investigaciones Biomedicas CSIC/UAM, IDIPaz, Arturo Duperier, 4, 28029, Madrid, Spain.

Background: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. Read More

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http://dx.doi.org/10.1186/s13023-019-1046-0DOI Listing

Systemic Sclerosis is Linked to Psoriasis and May Impact on Patients' Survival: A Large Cohort Study.

J Clin Med 2019 Apr 16;8(4). Epub 2019 Apr 16.

Department of Medicine B and Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, Ramat-Gan 5265601, Israel.

Although skin manifestations are quite common in systemic sclerosis (SSc), a link between SSc and psoriasis (PsO) has been poorly investigated. We assessed the Clalit medical database in a cohort study to compare the prevalence of PsO between SSc-patients and SSc-free controls. We also evaluated the SSc-related autoantibodies' role in the co-existence of the two conditions. Read More

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http://dx.doi.org/10.3390/jcm8040521DOI Listing

Detection of serum and salivary IgE and IgG1 immunoglobulins specific for diagnosis of food allergy.

PLoS One 2019 17;14(4):e0214745. Epub 2019 Apr 17.

Laboratory of Biotechnology and Molecular Biology, State University of Ceará, Fortaleza, Ceará, Brazil.

Given the growing incidence and prevalence of life-threatening food allergies, health concerns have raised new perspectives for in vivo and in vitro diagnostic methodologies, pointing to saliva as a promising material, already used to diagnose other pathologies. Based on the above considerations, this study aimed to verify the possible use of saliva for the detection of IgE and IgG1 in the diagnosis of food allergy. This was a randomized, cross-sectional clinical study with a quantitative approach, developed at a hospital referral center in allergy in the state of Ceará, from January to July 2015. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214745PLOS

Preoperative Diagnosis of Regional Lymph Node Metastasis of Colorectal Cancer With Quantitative Parameters From Dual-Energy CT.

AJR Am J Roentgenol 2019 Apr 17:1-9. Epub 2019 Apr 17.

1 Department of Radiology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, 107 Yanjiang Rd W, Guangzhou 510120, China.

The purpose of this study was to investigate the performance of quantitative parameters derived from dual-energy CT (DECT) in the preoperative diagnosis of regional metastatic lymph nodes (LNs) in patients with colorectal cancer. Triphasic contrast-enhanced DECT was performed for 178 patients with colon or high rectal cancer. The morphologic criteria, short-axis diameter, and quantitative DECT parameters of the largest regional LN were measured and compared between pathologically metastatic and nonmetastatic LNs. Read More

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http://dx.doi.org/10.2214/AJR.18.20843DOI Listing

A Case of Childhood Blastic Phase Chronic Myeloid Leukemia With Minor BCR-ABL.

J Pediatr Hematol Oncol 2019 Apr 15. Epub 2019 Apr 15.

Department of Pediatrics, National Center for Global Health and Medicine.

Chronic myeloid leukemia (CML) is commonly associated with major BCR-ABL transcript. We present a child with blastic phase CML associated with minor BCR-ABL transcript without prior CML diagnosis. Diagnosis was achieved by fluorescence in situ hybridization of peripheral blood neutrophils, which identified 90% as BCR-ABL positive. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001488DOI Listing
April 2019
1 Read

Inadequate diagnostics: the case to move beyond the bacilli for detection of meningitis due to Mycobacterium tuberculosis.

J Med Microbiol 2019 Apr 17. Epub 2019 Apr 17.

3 University of Minnesota, Minneapolis, MN, USA.

Tuberculosis (TB) meningitis is extremely difficult to diagnose due to its pauci-bacillary disease nature and new techniques are needed. Improved test sensitivity would allow for greater clinician confidence in diagnostic testing and has the potential to improve patient outcomes. Traditional microbiologic and molecular tests for TB meningitis focus on detection of TB bacilli and are inadequate. Read More

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http://dx.doi.org/10.1099/jmm.0.000975DOI Listing

Light-enhanced O-evolving Nanoparticles Boost Photodynamic Therapy to Elicit Anti-tumor Immunity.

ACS Appl Mater Interfaces 2019 Apr 17. Epub 2019 Apr 17.

Breast cancer remains to show high mortality and poor prognosis in women despite of significant progress in recent diagnosis and treatment. Herein, we report the rational design of highly efficient ultrasmall nanotheranostic agent with excellent photodynamic therapy (PDT) performance to against breast cancer and its metastasis by eliciting anti-tumor immunity. The ultrasmall nanoagent (3. Read More

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http://dx.doi.org/10.1021/acsami.9b03541DOI Listing

Non-endemic erythrodermic pemphigus foliaceus: a case with delayed diagnosis and response to rituximab.

J Dtsch Dermatol Ges 2019 Apr 17. Epub 2019 Apr 17.

Bullous Diseases Outpatient Clinic, 2nd Department of Dermatology & Venereology, Aristotle University School of Medicine, Papageorgiou General Hospital, Thessaloniki, Greece.

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http://dx.doi.org/10.1111/ddg.13836DOI Listing

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1.

Muscle Nerve 2019 Apr 17. Epub 2019 Apr 17.

Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City, Mexico.

Introduction: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Althought oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages.

Methods: Dysphagia was investigated in 11 pre-symptomatic DM1-carriers, 14 DM1 patients, and 12 age-matched healthy controls, using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores. Read More

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http://dx.doi.org/10.1002/mus.26485DOI Listing
April 2019
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A Direct from Blood/Plasma Reverse Transcription-Polymerase Chain Reaction for Dengue Virus Detection in Point-of-Care Settings.

Am J Trop Med Hyg 2019 Apr 15. Epub 2019 Apr 15.

Department of Medical Microbiology and Immunology, University of Alberta, Edmonton, Canada.

Infection with dengue virus (DENV) is widespread across tropical regions and can result in severe disease. Early diagnosis is important both for patient management and to differentiate infections that present with similar symptoms, such as malaria, chikungunya, and Zika. Rapid diagnostic tests that are used presently for point-of-care detection of DENV antigens lack the sensitivity of molecular diagnostics that detect viral RNA. Read More

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http://dx.doi.org/10.4269/ajtmh.19-0138DOI Listing

Multilevel Analysis of Factors Associated with Treatment-Seeking Behaviors among Caregivers with Febrile Children in Malawi.

Am J Trop Med Hyg 2019 Apr 15. Epub 2019 Apr 15.

School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan.

Early diagnosis and treatment of childhood fever, an important sign of potentially serious infections such as malaria, is essential for controlling disease progression, and ultimately, preventing deaths. This study examined individual- and community-level factors associated with treatment-seeking behaviors and promptness in these behaviors among caregivers of febrile under-five children in Malawi. The 2015-2016 Malawi Demographic Health Survey was used to analyze a nationally representative sample of 4,133 under-five children who had fever within 2 weeks before the survey. Read More

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http://dx.doi.org/10.4269/ajtmh.18-0900DOI Listing

Identification of Vigilin as a potential ischemia biomarker by Brain Slice-based SELEX.

Anal Chem 2019 Apr 17. Epub 2019 Apr 17.

Cerebral stroke is the leading cause of disability and death among adults worldwide, and results in numerous biochemical alterations. However, few efficient biomarkers are clinically available to diagnose cerebral stroke because of the limitations of biomarkers and their probes. In this work, we utilized frozen brain slices of middle cerebral artery occlusion (MCAO) in a mouse model of ischemia to select a specific binding aptamer, termed LCW17, by tissue-based SELEX (systematic evolution of ligands by exponential enrichment). Read More

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http://pubs.acs.org/doi/10.1021/acs.analchem.9b00609
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http://dx.doi.org/10.1021/acs.analchem.9b00609DOI Listing
April 2019
1 Read

Mortality of lung cancer as a second primary malignancy: A population-based cohort study.

Cancer Med 2019 Apr 16. Epub 2019 Apr 16.

Laboratory of Molecular Diagnosis of Cancer, Clinical Research Center for Breast, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

Lung cancer as a second primary malignancy (lung-2) is increasingly common, but its prognosis is poorly understood. This study aims to examine the overall and cancer-specific survival of patients diagnosed with lung-2 compared to lung-1. Primary lung cancer patients diagnosed from 1988 to 2014 in the Surveillance, Epidemiology, and End Results (SEER) program were included. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/cam4.2172
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http://dx.doi.org/10.1002/cam4.2172DOI Listing
April 2019
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SIRT3 elicited an anti-Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis.

Cancer Med 2019 Apr 16. Epub 2019 Apr 16.

Department of Gastroenterology, Drum Tower Clinical Medical College of Nanjing Medical University, Nanjing, China.

Cholangiocarcinoma (CCA) is an extremely invasive malignancy with late diagnosis and unfavorable prognosis. Surgery and chemotherapy are still not effective in improving outcomes in CCA patients. It is crucial to explore a novel therapeutic target for treating CCA. Read More

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http://dx.doi.org/10.1002/cam4.2089DOI Listing

Significance of MMP-9 and VEGF-C expression in North Indian women with breast cancer diagnosis.

Mol Cell Biochem 2019 Apr 16. Epub 2019 Apr 16.

Environmental Biochemistry and Molecular Biology Laboratory, Department of Biochemistry, University College of Medical Sciences & G.T.B. Hospital (University of Delhi), Dilshad Garden, Delhi, 110095, India.

Metastasis accounts for the majority of cancer-associated mortality and renders the targeted therapy fruitless in the patients of breast cancer. Matrix metalloproteinase-9 (MMP-9) and vascular endothelial growth factor (VEGF-C) are thought to be involved in tumor progression and metastasis. The aim of this study was to investigate the expression of MMP-9 and VEGF-C at both mRNA and protein levels in breast cancer and to correlate with lymph node metastasis and other clinicopathological characteristics. Read More

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http://link.springer.com/10.1007/s11010-019-03515-w
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http://dx.doi.org/10.1007/s11010-019-03515-wDOI Listing
April 2019
1 Read

Recent advances in carbohydrate-based cancer vaccines.

Biotechnol Lett 2019 Apr 16. Epub 2019 Apr 16.

Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province, Zhejiang Provincial People's Hospital (People's Hospital of Hangzhou Medical College), Hangzhou, 310014, Zhejiang, People's Republic of China.

Cancer is a complex multifactorial disease for which many promising therapeutic strategies such as immunotherapy are emerging. Malignant cells frequently express aberrant cell surface carbohydrates, which differentiate them from normal "healthy" cells. This characteristic presents a window for the development of synthetic carbohydrate antigen-based cancer vaccines which can be recognized by the immune system and can bring about T cell-dependent immune responses. Read More

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http://dx.doi.org/10.1007/s10529-019-02675-5DOI Listing

Potential Regulatory Effects of miR-182-3p in Osteosarcoma via Targeting EBF2.

Biomed Res Int 2019 12;2019:4897905. Epub 2019 Mar 12.

Department of Orthopedics, the Second Hospital of Jilin University, Ziqiang Street 218, Changchun, Jilin 130041, China.

Osteosarcoma (OS) is one of the most common primary malignant bone tumors in adolescents with a high mortality rate. MicroRNA (miRNA) is a kind of noncoding RNAs and has been proved to participate in many physiological processes. Many miRNAs have been reported to act as function regulators in OS. Read More

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https://www.hindawi.com/journals/bmri/2019/4897905/
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http://dx.doi.org/10.1155/2019/4897905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434304PMC
March 2019
1 Read

Evidence for an oncogenic role of HOXC6 in human non-small cell lung cancer.

PeerJ 2019 9;7:e6629. Epub 2019 Apr 9.

Experimental Medicine Center, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

Background: Identification of specific biomarkers is important for the diagnosis and treatment of non-small cell lung cancer (NSCLC). HOXC6 is a homeodomain-containing transcription factor that is highly expressed in several human cancers; however, its role in NSCLC remains unknown.

Methods: The expression and protein levels of were assessed in NSCLC tissue samples by Quantitative real-time PCR (qRT-PCR) and immunohistochemistry, respectively. Read More

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http://dx.doi.org/10.7717/peerj.6629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461029PMC

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

BDJ Open 2019 11;5. Epub 2019 Apr 11.

2University of the Western Cape/University of Cape Town Collaborative Dental Genetics Clinic, Red Cross Children's Hospital, Cape Town, South Africa.

Background: The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of abnormal dentine in some forms of OI is well documented, there is scant information on the association of abnormal dentine in the Black African persons with phenotypic OI III and genotypic OI XI in South Africa.

Methods: This was a cross-sectional analytic study. Read More

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http://dx.doi.org/10.1038/s41405-019-0014-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459848PMC

Lung Molecular Cytopathology: EGFR and Beyond.

Authors:
Deepali Jain

J Cytol 2019 Apr-Jun;36(2):124-127

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Lung cancer (LC) is the leading cause of cancer-related mortality. Unfortunately, most patients of LC present at the advanced stage of the disease with a poor prognosis and 1-year survival of less than 20%. At the advanced stage of the disease, surgical resection cannot be possible, hence small biopsy or cytology specimens remain a choice for their correct diagnosis. Read More

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http://www.jcytol.org/text.asp?2019/36/2/124/251449
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http://dx.doi.org/10.4103/JOC.JOC_135_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425779PMC
April 2019
1 Read

Core Needle Biopsy versus Fine Needle Aspiration Cytology in Bone and Soft Tissue Tumors.

Authors:
Bharat Rekhi

J Cytol 2019 Apr-Jun;36(2):118-123

Department of Surgical Pathology, Tata Memorial Centre, Parel, Mumbai, Maharashtra, India.

Fine needle aspiration cytology (FNAC) for diagnosis of musculoskeletal tumors is well discussed and debated. The current evidence restricts its application in recurrent and metastatic lesions, with core needle biopsy as the acceptable technique/gold standard for the primary diagnosis of these challenging tumors. However, there are several studies showing reasonable sensitivity and specificity in primary diagnosis of bone and soft tissue tumors, especially in differentiating benign from malignant tumors. Read More

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http://dx.doi.org/10.4103/JOC.JOC_125_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425772PMC

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.

Genet Med 2019 Apr 17. Epub 2019 Apr 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Purpose: Maternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the pathogenic mechanisms underlying DE remain uncertain and there are no definitive tests to establish the diagnosis. Here, we explore the potential of DNA methylation as a diagnostic biomarker for DE and to inform disease pathogenesis. Read More

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http://www.nature.com/articles/s41436-019-0516-z
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http://dx.doi.org/10.1038/s41436-019-0516-zDOI Listing
April 2019
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BRCA1-No Matter How You Splice It.

Cancer Res 2019 Apr 16. Epub 2019 Apr 16.

The University of Kansas Cancer Center, Kansas City, Kansas.

(breast cancer 1, early onset), a well-known breast cancer susceptibility gene, is a highly alternatively spliced gene. alternative splicing may serve as an alternative regulatory mechanism for the inactivation of the gene in both hereditary and sporadic breast cancers, and other -associated cancers. The alternative transcripts of can mimic known functions, possess unique functions compared with the full-length transcript, and in some cases, appear to function in opposition to full-length In this review, we will summarize the functional "naturally occurring" alternative splicing transcripts of and then discuss the latest next-generation sequencing-based detection methods and techniques to detect alternative splicing patterns and their potential use in cancer diagnosis, prognosis, and therapy. Read More

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-18-3190DOI Listing
April 2019
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Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.

J Dent Child (Chic) 2019 Jan;86(1):61-63

Assistant professor, Faculty of Dentistry, McGill University and a research director, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

Pachyonychia congenita (PC) is a rare autosomal dominant condition caused by heterozygous mutation in one of five keratin genes. The purpose of this paper is to report a five-day-old infant with PC whose initial presentation revealed multiple malformed natal teeth and gingival lesions on the alveolar crest. Further investiga- tions led to genetic molecular testing of the child and his parents, which revealed a de novo and novel missense variant of KRT17 (c. Read More

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January 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 Apr 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

Background: Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as of the respiratory muscles, which is the primary cause of disease fatality. To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases.

Results: We identified two patients of Italian and French ancestry with a clinical diagnosis of juvenile-onset ALS who were mutation-negative in any of the known ALS causative genes. Read More

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing

Molecular features, prognosis, and novel treatment options for pediatric acute megakaryoblastic leukemia.

Expert Rev Hematol 2019 Apr 16. Epub 2019 Apr 16.

a Department of Hematology , Juntendo University Graduate School of Medicine , Tokyo , Japan .

Introduction: Acute megakaryoblastic leukemia (AMegL) is a rare hematological neoplasm most often diagnosed in children and is commonly associated with Down syndrome (DS). Although AMegLs are specifically characterized and typically diagnosed by megakaryoblastic expansion, recent advancements in molecular analysis have highlighted the heterogeneity of this disease, with specific cytogenic and genetic alterations characterizing different disease sub-types. Areas covered: This review will focus on describing recurrent molecular variations in both DS and non-DS pediatric AMegL, their role in promoting leukemogenesis, their association with different clinical aspects and prognosis, and finally, their influence on future treatment strategies with a number of specific drugs beyond conventional chemotherapy already under development. Read More

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http://dx.doi.org/10.1080/17474086.2019.1609351DOI Listing

Current concepts in the diagnosis and management of neuroendocrine neoplasms of unknown primary.

Minerva Endocrinol 2019 Apr 15. Epub 2019 Apr 15.

Endocrine Unit.

Neuroendocrine neoplams (NENs) of unknowm primary origin (UPO-NENs) are advanced neoplasms constituting 11%-22% of all NENs that by definition their primary tissue of origin has not been identified with standard diagnostic work-up. Delineating the primary site of origin of UPO-NENs has important implications for selecting the appropriate treatment and overall prognosis. The small bowel, followed by the lung and pancreas are the most prevalent primary sites of origin of UPO-NENs that are uncovered during an extensive and prolonged diagnostic work-up; however, a number of UPO-NENs may still remain occult even after prolonged follow-up. Read More

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https://www.minervamedica.it/index2.php?show=R07Y9999N00A190
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http://dx.doi.org/10.23736/S0391-1977.19.03012-8DOI Listing
April 2019
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[Progression of diagnosis and treatment of medullary thyroid carcinoma].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Apr;54(4):306-310

Department of Head and Neck Surgery, Sichuan Cancer Hospital, Sichuan Institute of Cancer Research, Sichuan Cancer Prevention and Control Center, Cancer Hospital affiliate to School of Medicine, Electronic Science and Technology, Chengdu 610041, China.

To review and summarize recent update on preoperative diagnostic criteria, treatment and postoperative follow-up for medullary thyroid carcinoma. The relevant literatures and guidelines about medullary thyroid carcinoma were analyzed and summarized. In the early stages of the disease radical surgery still dominated. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2019.04.015DOI Listing

Preparation and Properties of Tumor-Targeting MRI Contrast Agent Based on Linear Polylysine Derivatives.

Molecules 2019 Apr 15;24(8). Epub 2019 Apr 15.

Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals, Zhejiang University of Technology, Hangzhou 310014, China.

We developed a tumor-targeted contrast agent based on linear polylysine (PLL) by conjugating a small molecular imaging agent, fluorescent molecule and targeting agent amino phenylboronic acid onto the amino groups of polylysine, which can specifically target monosaccharide sialic acid residues overexpressing on the surface of tumor cell membranes. Further, 3,4,5,6-Tetrahydrophthalic anhydride (DCA) was attached to the free amino groups of the polylysine to change to a negative charge at physiology pH to lower the cytotoxicity, but it soon regenerated to a positive charge again once reaching the acidic intratumoral environment and therefore increased cell uptake. Laser confocal microscopy images showed that most of the polymeric contrast agents were bound to the cancer cell membrane. Read More

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https://www.mdpi.com/1420-3049/24/8/1477
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http://dx.doi.org/10.3390/molecules24081477DOI Listing
April 2019
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Disturbed neurovascular coupling in type 2 diabetes mellitus patients: Evidence from a comprehensive fMRI analysis.

Neuroimage Clin 2019 Mar 27;22:101802. Epub 2019 Mar 27.

Department of Radiology & Functional and Molecular Imaging Key Lab of Shaanxi Province, Tangdu Hospital, Fourth Military Medical University, 569 Xinsi Road, Xi'an 710038, Shaanxi, China. Electronic address:

Background: Previous studies presumed that the disturbed neurovascular coupling to be a critical risk factor of cognitive impairments in type 2 diabetes mellitus (T2DM), but distinct clinical manifestations were lacked. Consequently, we decided to investigate the neurovascular coupling in T2DM patients by exploring the MRI relationship between neuronal activity and the corresponding cerebral blood perfusion.

Methods: Degree centrality (DC) map and amplitude of low-frequency fluctuation (ALFF) map were used to represent neuronal activity. Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101802DOI Listing

Effect of age, ethnicity, sex, cognitive status and APOE genotype on amyloid load and the threshold for amyloid positivity.

Neuroimage Clin 2019 Mar 27;22:101800. Epub 2019 Mar 27.

Florida ADRC, USA; University of Florida College of Medicine, Gainesville, FL, USA.

The threshold for amyloid positivity by visual assessment on PET has been validated by comparison to amyloid load measured histopathologically and biochemically at post mortem. As such, it is now feasible to use qualitative visual assessment of amyloid positivity as an in-vivo gold standard to determine those factors which can modify the quantitative threshold for amyloid positivity. We calculated quantitative amyloid load, measured as Standardized Uptake Value Ratios (SUVRs) using [18-F]florbetaben PET scans, for 159 Hispanic and non-Hispanic participants, who had been classified clinically as Cognitively Normal (CN), Mild Cognitive Impairment (MCI) or Dementia (DEM). Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101800DOI Listing