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diagnosis - Top 30 Publications

Outcomes in Women With Cytology Showing Atypical Squamous Cells of Undetermined Significance With vs Without Human Papillomavirus Testing.

Little is known about the long-term yield of high-grade cervical intraepithelial neoplasia (CIN) and the influence on biopsy and treatment rates of human papillomavirus (HPV) triage of cytology showing atypical squamous cells of undetermined significance (hereafter ASC-US cytology).

Association of Autonomic Dysfunction With Disease Progression and Survival in Parkinson Disease.

Evidence suggests that development of autonomic dysfunction (AutD) may negatively affect disease course and survival in patients with synucleinopathies. However, the few available studies on Parkinson disease (PD) have conflicting results, comprise a small number of patients, have short follow-up periods, and lack pathologic confirmation of the diagnosis.

Factors Associated With Communicative Participation in Amyotrophic Lateral Sclerosis.

People with amyotrophic lateral sclerosis frequently experience bulbar impairment and dysarthria that may restrict their ability to take part in everyday communication situations. The aim of this study is to examine selected variables that may contribute to restrictions in communicative participation.

Age-Related Macular Degeneration in Patients With Chronic Myeloproliferative Neoplasms.

It has been suggested that systemic inflammation increases the risk of age-related macular degeneration (AMD). Given that chronic immune modulation is present in patients with myeloproliferative neoplasms (MPNs), the risk of AMD in these patients may be increased.

Breast Cancer Screening With Mammography Plus Ultrasonography or Magnetic Resonance Imaging in Women 50 Years or Younger at Diagnosis and Treated With Breast Conservation Therapy.

Younger women (aged ≤50 years) who underwent breast conservation therapy may benefit from breast magnetic resonance imaging (MRI) screening as an adjunct to mammography.

The Diagnosis and Treatment of Prostate Cancer: A Review.

Prostate cancer is the most common cancer diagnosis made in men with more than 160 000 new cases each year in the United States. Although it often has an indolent course, prostate cancer remains the third-leading cause of cancer death in men.

Prevalence and Ethnic Pattern of Diabetes and Prediabetes in China in 2013.

Previous studies have shown increasing prevalence of diabetes in China, which now has the world's largest diabetes epidemic.

Effect of Electronic Reminders, Financial Incentives, and Social Support on Outcomes After Myocardial Infarction: The HeartStrong Randomized Clinical Trial.

Adherence to medications prescribed after acute myocardial infarction (AMI) is low. Wireless technology and behavioral economic approaches have shown promise in improving health behaviors.

Cardiovascular Testing and Clinical Outcomes in Emergency Department Patients With Chest Pain.

Noninvasive testing and coronary angiography are used to evaluate patients who present to the emergency department (ED) with chest pain, but their effects on outcomes are uncertain.

Fricative Contrast and Coarticulation in Children With and Without Speech Sound Disorders.

The purpose of this study was, first, to expand our understanding of typical speech development regarding segmental contrast and anticipatory coarticulation, and second, to explore the potential diagnostic utility of acoustic measures of fricative contrast and anticipatory coarticulation in children with speech sound disorders (SSD).

Perceptually Salient Sound Distortions and Apraxia of Speech: A Performance Continuum.

We sought to characterize articulatory distortions in apraxia of speech and aphasia with phonemic paraphasia and to evaluate the diagnostic validity of error frequency of distortion and distorted substitution in differentiating between these disorders.

Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Eyelid Margin and Conjunctival Tumors.

The clinical diagnosis of conjunctival and eyelid margin tumors is challenging, and new noninvasive imaging techniques could be valuable in this field.

Risk Stratification of Patients with Crohn's Disease: A Retrospective Analysis of Clinical Decision Making and Its Impact on Long-Term Outcome.

Complications such as need for bowel resections and hospitalization due to Crohn's disease (CD) occur when disease activity persists due to ineffective therapy. Certain "high-risk" features require an early introduction of anti-tumor necrosis factor-α therapy to prevent such complications. We aim to evaluate the prevalence of "high-risk" features among a cohort of patients with CD and examine the association between discordance of early therapy with baseline risk stratification and disease outcome.

Cardiovascular Oncologic Emergencies.

Oncologic emergencies can present either as a progression of a known cancer or as the initial presentation of a previously undiagnosed cancer. In most of these situations, a very high degree of suspicion is required to allow prompt assessment, diagnosis, and treatment. In this article, we review the presentation and management of cardiovascular oncologic emergencies from primary and metastatic tumors of the heart and complications such as pericardial tamponade, superior vena cava syndrome, and hyperviscosity syndrome. We have included the cardiovascular complications from radiation therapy, chemotherapeutic agents, and biologic agents used in modern cancer treatment.

Greater Real-Life Diagnostic Efficacy of Allergen Molecule-Based Diagnosis for Prescription of Immunotherapy in an Area with Multiple Pollen Exposure.

Allergen molecule-based diagnosis has been suggested to facilitate the identification of disease-causing allergen sources and the prescription of allergen-specific immunotherapy (AIT). The aim of the current study was to compare allergen molecule-based IgE serology with allergen extract-based skin testing for the identification of the disease-causing allergen sources. The study was conducted in an area where patients are exposed to pollen from multiple sources (trees, grasses, and weeds) at the same time to compare the diagnostic efficiency of the 2 forms of diagnosis.

Identification of dysregulated long non-coding RNAs/microRNAs/mRNAs in TNM I stage lung adenocarcinoma.

Lung adenocarcinoma (LUAD) is the primary subtype in lung cancer, which is the leading cause of cancer-related death worldwide. This study aimed to investigate the aberrant expression profiling of long non-coding RNA (lncRNA) in TNM I stage (stage I) LUAD. The lncRNA/mRNA/miRNA expression profiling of stage I LUAD and adjacent non-tumor tissues from 4 patients were measured by RNA-sequencing. Total of 175 differentially expressed lncRNAs (DELs), 1321 differentially expressed mRNAs (DEMs) and 94 differentially expressed microRNAs (DEMIs) were identified in stage I LUAD. DEMI-DEM regulatory network consisted of 544 nodes and 1123 edge; miR-200 family members had high connectivity with DEMs. In DEL-DEM co-expression network, CDKN2B-AS1, FENDRR and LINC00312 had the high connectivity with DEMs, which co-expressed with 105, 63 and 61 DEMs, respectively. DEL-DEMI-DEM network depicted the links among DELs, DEMI and DEMs. Identified DEMs were significantly enriched in cell adhesion molecules, focal adhesion and tight junction of Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways; and enriched in cell adhesion, angiogenesis and regulation of cell proliferation of Gene Ontology biological processes. Quantitative real-time polymerase chain reaction results were generally consistent with our bioinformatics analyses. LINC00312 and FENDRR had diagnostic value for LUAD patients in The Cancer Genome Atlas database. Our study might lay the foundation for illumination of pathogenesis of LUAD and identification of potential therapeutic targets and novel diagnosis biomarkers for LUAD patients.

Secreted miR-210-3p as non-invasive biomarker in clear cell renal cell carcinoma.

The most common subtype of renal cell carcinoma (RCC) is clear cell RCC (ccRCC). It accounts for 70-80% of all renal malignancies representing the third most common urological cancer after prostate and bladder cancer. The identification of non-invasive biomarkers for the diagnosis and responsiveness to therapy of ccRCC may represent a relevant step-forward in ccRCC management. The aim of this study is to evaluate whether specific miRNAs deregulated in ccRCC tissues present altered levels also in urine specimens. To this end we first assessed that miR-21-5p, miR-210-3p and miR-221-3p resulted upregulated in ccRCC fresh frozen tissues compared to matched normal counterparts. Next, we evidenced that miR-210-3p resulted significantly up-regulated in 38 urine specimens collected from two independent cohorts of ccRCC patients at the time of surgery compared to healthy donors samples. Of note, miR-210-3p levels resulted significantly reduced in follow-up samples. These results point to miR-210-3p as a potential non-invasive biomarker useful not only for diagnosis but also for the assessment of complete resection or response to treatment in ccRCC management.

Specific and selective probes for Staphylococcus aureus from phage-displayed random peptide libraries.

Staphylococcus aureus is a major human pathogen causing health care-associated and community-associated infections. Early diagnosis is essential to prevent disease progression and to reduce complications that can be serious. In this study, we selected, from a 9-mer phage peptide library, a phage clone displaying peptide capable of specific binding to S. aureus cell surface, namely St.au9IVS5 (sequence peptide RVRSAPSSS).The ability of the isolated phage clone to interact specifically with S. aureus and the efficacy of its bacteria-binding properties were established by using enzyme linked immune-sorbent assay (ELISA). We also demonstrated by Western blot analysis that the most reactive and selective phage peptide binds a 78KDa protein on the bacterial cell surface. Furthermore, we observed selectivity of phage-bacteria-binding allowing to identify clinical isolates of S. aureus in comparison with a panel of other bacterial species. In order to explore the possibility of realizing a selective bacteria biosensor device, based on immobilization of affinity-selected phage, we have studied the physisorbed phage deposition onto a mica surface. Atomic Force Microscopy (AFM) was used to determine the organization of phage on mica surface and then the binding performance of mica-physisorbed phage to bacterial target was evaluated during the time by fluorescent microscopy. The system is able to bind specifically about 50% of S. aureus cells after 15' and 90% after one hour. Due to specificity and rapidness, this biosensing strategy paves the way to the further development of new cheap biosensors to be used in developing countries, as lab-on-chip (LOC) to detect bacterial agents in clinical diagnostics applications.

Magnetic particles for in vitro molecular diagnosis: From sample preparation to integration into microsystems.

Colloidal magnetic particles (MPs) have been developed in association with molecular diagnosis for several decades. MPs have the great advantage of easy manipulation using a magnet. In nucleic acid detection, these particles can act as a capture support for rapid and simple biomolecule separation. The surfaces of MPs can be modified by coating with various polymer materials to provide functionalization for different applications. The use of MPs enhances the sensitivity and specificity of detection due to the specific activity on the surface of the particles. Practical applications of MPs demonstrate greater efficiency than conventional methods. Beyond traditional detection, MPs have been successfully adopted as a smart carrier in microfluidic and lab-on-a-chip biosensors. The versatility of MPs has enabled their integration into small single detection units. MPs-based biosensors can facilitate rapid and highly sensitive detection of very small amounts of a sample. In this review, the application of MPs to the detection of nucleic acids, from sample preparation to analytical readout systems, is described. State-of-the-art integrated microsystems containing microfluidic and lab-on-a-chip biosensors for the nucleic acid detection are also addressed.

A new platform for serological analysis based on porous 3-dimensional polyethylene sinter bodies.

A new sensitive and selective platform, three-dimensional immunosensor, has been developed for a rapid serological diagnosis; detection of a Borrelia infection was considered as a model assay. The immunosensor is based on a 3-dimensional (3D) porous solid surface (sinter body) with dimensions of 2×2.5mm where a recombinant variable lipoprotein surface-exposed protein (VlsE; Borrelia-antigen) is immobilized by different techniques. The sinter body served as a robust and inexpensive carrier, which facilitated a successful hydrophobic adsorption as well as covalent immobilization of the antigen with sufficient amounts of on the surface. Because of sinter body's porosity, the detection could be performed in an immune affinity flow system based on a little disposable plastic column. The flow of reagents through the column is advantageous in terms of reducing the non-specific interaction and shortening the test time. Furthermore, three labels were tested for a colorimetric detection: i) a horseradish peroxidase (HRP) labeled secondary antibody, ii) nanoparticles based on Sudan IV, and iii) gold nanoparticles modified with protein A. HRP secondary labeled antibody provides the most sensitive test, 1000 fold dilution of serum sample can be clearly detected in only 20min. Gold nanoparticles modified with protein A were used as a direct label or as a catalyst for reduction of silver ions. Direct detection with gold nanoparticles provides short time of analysis (5min) while detection of metallic silver required longer time (12min) but with improved sensitivity. Nanoparticles based on Sudan IV showed high background and were less favorable. The assay is distinctive because of the rapid analysis time with all used labels, longest 20min. Compared to classical serological methods for Borrelia diagnosis, the developed method offers a simple, rapid and reliable tool of analysis with minimal cost and can be easily transferred to other infectious diseases.

Methotrexate-Related Lymphoproliferative Disorder in Patients With Osteonecrosis of the Jaw: A 3-Case Report and Literature Review.

Patients with immunodeficiency or immunosuppression are at risk of developing a lymphoproliferative disorder (LPD). Methotrexate (MTX) is an iatrogenic cause of LPD, which in up to 50% cases occurs in extranodal sites. The occurrence of MTX-related LPD with osteonecrosis of the jaw (ONJ) has rarely been reported. Moreover, there are no clear diagnostic criteria and treatment strategies for management of these lesions. In the present cases, discontinuing MTX and debridement of the necrotic bone were effective. This report describes 3 cases of MTX-related LPD in patients with longstanding rheumatoid arthritis (RA) who presented with ONJ. The first patient was a 74-year-old man with RA who had received treatment with MTX for 7 years before presenting with ONJ and submental lymphadenopathy. The second patient was a 79-year-old woman who had been treated for 21 years with MTX and who presented with ONJ. The third patient was a 67-year-old man who had been treated with MTX for more than 15 years. In all 3 cases, biopsy, histology, and immunohistochemistry using a panel of lymphoid markers (Epstein-Barr virus [EBV], CD79a, CD20, PAX-5, CD3, and CD30) resulted in the diagnosis of EBV-driven T-cell, B-cell, and Hodgkin-like LPD. All 3 patients recovered after cessation of MTX and surgical debridement. Biopsy examination, diagnostic immunohistochemistry using lymphoid immune markers, and imaging studies using computed tomography, magnetic resonance imaging, and positron-emission tomographic computed tomography were useful for the correct diagnosis of this condition.

The problem of elimination of HCV infections in Poland

The article concerns abbreviated presentation of the results obtained in the Project KIK / 35 “Prevention of HCV infection,” sponsored by the Government of the Swiss Federation and the Ministry of Health of the Republic of Poland. The Project concerned the analysis of the prevalence of HCV infection in the adult population in Poland, the risk factors and groups at risk of these infections. Two sub-projects were related to separate subpopulations: pregnant women and drug users. Research in one sub-project focused on the hazards of HCV infections in medical institutions and non-medical facilities, where the procedures are performed with the interruption of tissue. In all sub-projects were carried out surveys, which served to check the knowledge ofn HCV infections, but also practical measures aimed at preventing these infections. One of the sub projects KIK / 35 “Education of medical staff and nonmedical as a key element in the prevention of blood-borne infections” was devoted entirely to the education of professionals responsible for the proper, safety, performance of procedures running with interruption of tissues.“ The results of these studies revealed significant shortcomings in the detection of existing infections and large gaps in knowledge about prevention. Taking into account the range of expertise needed, it turned out that the lack of information applies to both the general public and to many professionals. The project KIK / 35 in its summary refers to the risks of HCV infection, both known from the literature and disclosed the specificity of our country. The ultimate result of the Project NCI / 35 is to develop a strategy for the elimination of HCV infections in Poland. This strategy, strongly linked to the WHO strategy includes integrated, permanent preventive measures related tot he introduction of screening programs for early detection of HCV infections and treat them as important element in prevention. Special emphasis was put on universal access to diagnosis and treatment for all social groups.

Can a rapid measure of self-exposure to drugs of abuse provide dimensional information on depression comorbidity?

Addictions to heroin or to cocaine are associated with substantial psychiatric comorbidity, including depression. Poly-drug self-exposure (eg, to heroin, cocaine, cannabis, or alcohol) is also common, and may further affect depression comorbidity.

Promises, Pitfalls and Practicalities of Prenatal Whole Exome Sequencing.

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Twenty-nine studies were identified, with diagnostic rates varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates. The data suggests that diagnostic yields will be greater in fetuses with multiple anomalies or in cases preselected following genetic review. Beyond its ability to improve diagnostic rates, we explore the potential of WES to improve understanding of prenatal presentations of genetic disorders and lethal fetal syndromes. We discuss prenatal phenotyping limitations, counselling challenges regarding variants of uncertain significance, incidental and secondary findings, and technical problems in WES. We review the practical, ethical, social and economic issues that must be considered before prenatal WES could become part of routine testing. Finally, we reflect upon the potential future of prenatal genetic diagnosis, including a move towards whole genome sequencing (WGS) and non-invasive whole exome and whole genome testing.

Practical strategies for the diagnosis and assessment of atopic dermatitis.

Atopic dermatitis (AD) has a significant, lifelong clinical impact on affected individuals and has profound effects on quality of life both for patients and their families. The diagnosis usually can be reliably established on the basis of the history and physical examination. In patients with skin of color, blanching of the skin may be helpful to detect erythema, lichenification, follicular accentuation, and hypopigmentation (all of which are more common than in lighter-skinned patients). Once the diagnosis of AD is established, an assessment of severity, persistence, and impact on the patient's and family's life is important as a guide to treatment decisions.

Both absolute and relative quantification of urinary mRNA are useful for non-invasive diagnosis of acute kidney allograft rejection.

Urinary mRNA analysis with three-gene set (18S rRNA, CD3ε, and IP-10) has been suggested as a non-invasive biomarker of acute rejection (AR) in kidney transplant recipients using quantitative real-time PCR (qPCR). Application of droplet digital PCR (ddPCR), which has been suggested to provide higher sensitivity, accuracy, and absolute quantification without standard curves, could be a useful method for the quantifying low concentration of urinary mRNA. We investigated the urinary expression of these three genes in Korean patients with kidney transplantation and also evaluated the usefulness of ddPCR. 90 urine samples were collected at time of allograft biopsy in kidney recipients (n = 67) and from patients with stable renal function more than 10 years (n = 23). Absolute quantification with both PCR system showed significant higher mRNA levels of CD3ε and IP-10 in AR patients compared with stable transplants (STA), but there was no difference in 18S rRNA expression across the patient groups. To evaluate discrimination between AR and STA, ROC curve analyses of CTOT-4 formula yielded area under the curve values of 0.72 (95% CI 0.60-0.83) and 0.77 (95% CI 0.66-0.88) for qPCR and ddPCR, respectively. However, 18S normalization of absolute quantification and relative quantification with 18S showed better discrimination of AR from STA than those of the absolute method. Our data indicate that ddPCR system without standard curve would be useful to determine the absolute quantification of urinary mRNA from kidney transplant recipients. However, comparative method also could be useful and convenient in both qPCR and ddPCR analysis.

Validity of using multiple imputation for "unknown" stage at diagnosis in population-based cancer registry data.

The multiple imputation approach to missing data has been validated by a number of simulation studies by artificially inducing missingness on fully observed stage data under a pre-specified missing data mechanism. However, the validity of multiple imputation has not yet been assessed using real data. The objective of this study was to assess the validity of using multiple imputation for "unknown" prostate cancer stage recorded in the New South Wales Cancer Registry (NSWCR) in real-world conditions.

A Collection on the prevention, diagnosis, and treatment of sexually transmitted infections: Call for research papers.

Nicola Low and colleagues announce a call for research papers on sexually transmitted infections, to accompany a Collection on the topic.


To investigate choroidal thickness in eyes with clinically significant pseudophakic cystoid macular edema (PCME) during the acute phase and following resolution of the edema, using enhanced depth imaging spectral domain optical coherence tomography (EDI-OCT).

Evidence-Based Medicine: Nonsyndromic Craniosynostosis.

After reading this article, the participant should be able to: 1. Understand the craniofacial dysmorphology associated with nonsyndromic craniosynostosis. 2. Understand the functional concerns and preoperative considerations when treating patients with nonsyndromic craniosynostosis. 3. Understand the various treatment options available to address patients with nonsyndromic craniosynostosis. 4. Recognize the current debate with regard to timing and type of surgical intervention, and their impact on patient outcome, for patients with nonsyndromic craniosynostosis.