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Concept: Biopsy


BACKGROUND: A small pre-test study was conducted to ascertain potential harm and anxiety associated with distributing information about possible cancer treatment options at the time of biopsy, prior to knowledge about a definitive cancer diagnosis. Priming men about the availability of multiple options before they have a confirmed diagnosis may be an opportunity to engage patients in more informed decision-making. METHODS: Men with an elevated PSA test or suspicious Digital Rectal Examination (DRE) who were referred to a urology clinic for a biopsy were randomized to receive either the clinic’s usual care (UC) biopsy instruction sheet (n = 11) or a pre-biopsy educational (ED) packet containing the biopsy instruction sheet along with a booklet about the biopsy procedure and a prostate cancer treatment decision aid originally written for newly diagnosed men that described in detail possible treatment options (n = 18). RESULTS: A total of 62% of men who were approached agreed to be randomized, and 83% of the ED group confirmed they used the materials. Anxiety scores were similar for both groups while awaiting the biopsy procedure, with anxiety scores trending lower in the ED group: 41.2 on a prostate-specific anxiety instrument compared to 51.7 in the UC group (p = 0.13). ED participants reported better overall quality of life while awaiting biopsy compared to the UC group (76.4 vs. 48.5, p = 0.01). The small number of men in the ED group who went on to be diagnosed with cancer reported being better informed about the risks and side effects of each option compared to men diagnosed with cancer in the UC group (p = 0.07). In qualitative discussions, men generally reported they found the pre-biopsy materials to be helpful and indicated having information about possible treatment options reduced their anxiety. However, 2 of 18 men reported they did not want to think about treatment options until after they knew their biopsy results. CONCLUSIONS: In this small sample offering pre-biopsy education about potential treatment options was generally well received by patients, appeared to be beneficial to men who went on to be diagnosed, and did not appear to increase anxiety unnecessarily among those who had a negative biopsy.

Concepts: Cancer, Metastasis, Biopsy, Prostate cancer, Screening, Benign prostatic hyperplasia, Rectal examination, Prostate-specific antigen


BACKGROUND: Sarcoidosis is a systemic disease characterized by the formation of noncaseating granulomas in various tissues. Cutaneous involvement occurs in 20 to 35 percent of the patients and may be the initial manifestation of the disease. Our study was performed to discriminate the clinical, laboratory, and prognostic differences between patients with specific and nonspecific cutaneous involvement. The second aim was to asses the diagnostic usefulness of punch biopsy in sarcoidosis. METHODS: The clinical, laboratory, pathological features, and skin biopsy results of 120 patients with cutaneous sarcoidosis were evaluated. The patients fulfilled clinical, radiologic or both features of sarcoidosis supported by the histopathologic evidence of noncaseating granulomas.Skin involvement was the initial finding in 30% of the patients. Erythema nodosum and lupus pernio were the most common skin lesions. Almost all of the patients with LP were either stage 0 or 1. Respiratory symptoms occurred in 72.2% of the patients with specific skin involvement. BronchoalveolarLavage (BAL) lymphocytosis, high ratio of CD4/CD8 and elevated serum Angiotensin Converting Enzyme (ACE) were more frequent in patients with specific cutaneous lesions. The frequency of progressive disease was significantly higher in this group. Punch skin biopsy was diagnostic in 81.6% of the patients with a complication rate of 4%. CONCLUSIONS: Specific cutaneous lesions along with BAL lymphocytosis, high CD4/CD8 ratio and elevated serum ACE levels may be predictors of progressive disease in sarcoidosis. Punch biopsy is a simple technique with a high diagnostic yield and a low complication rate for cutaneous sarcoidosis.

Concepts: Medical terms, Biopsy, Pathology, Sarcoidosis, Granuloma, Skin biopsy, Erythema nodosum, Lupus pernio


A patient with a known biopsy of polyarteritis nodosa diagnosis presented with cyclic fevers, acute kidney injury, and progression of rash from macular to pustular, worsening despite being on antibiotics, without evidence of infection on multiple cultures. The patient had a pathological diagnosis from a skin biopsy of acute generalized exanthematous pustulosis syndrome, with a total resolution of rash, fevers, and acute kidney injury on treatment with pulse steroids.

Concepts: Inflammation, Biopsy, Pathology, Rheumatology, Vasculitis, Acute kidney injury, Polyarteritis nodosa, Diseases involving the fasciae


Both multi-parametric MRI (mpMRI) and the Prostate Health Index (PHI) have shown promise in predicting a positive biopsy in men with suspected prostate cancer. Here we investigated the value of combining both tests in men requiring a repeat biopsy. PHI scores were measured in men undergoing re-biopsy with an mpMRI image-guided transperineal approach (n = 279, 94 with negative mpMRIs). The PHI was assessed for ability to add value to mpMRI in predicting all or only significant cancers (Gleason ≥7). In this study adding PHI to mpMRI improved overall and significant cancer prediction (AUC 0.71 and 0.75) compared to mpMRI + PSA alone (AUC 0.64 and 0.69 respectively). At a threshold of ≥35, PHI + mpMRI demonstrated a NPV of 0.97 for excluding significant tumours. In mpMRI negative men, the PHI again improved prediction of significant cancers; AUC 0.76 vs 0.63 (mpMRI + PSA). Using a PHI≥35, only 1/21 significant cancers was missed and 31/73 (42%) men potentially spared a re-biopsy (NPV of 0.97, sensitivity 0.95). Decision curve analysis demonstrated clinically relevant utility of the PHI across threshold probabilities of 5-30%. In summary, the PHI adds predictive performance to image-guided detection of clinically significant cancers and has particular value in determining re-biopsy need in men with a negative mpMRI.

Concepts: Cancer, Metastasis, Oncology, Biopsy, Prostate cancer, Prediction, Futurology, Prostate


INTRODUCTION    There are no widely accepted standards of diagnosis of sarcoidosis.  OBJECTIVES    The aim of the study was to assess the relative diagnostic yield of endobronchial ultrasound needle aspiration (EBUS-NA) and endoscopic ultrasound needle aspiration (EUS-NA), and to compare them with the standard diagnostic techniques, i.e. endobronchial biopsy (EBB), transbronchial lung biopsy (TBLB), transbronchial needle aspiration (TBNA) and mediastinoscopy.  PATIENTS AND METHODS    A prospective randomized study including consecutive patients with clinical diagnosis of stage I or II sarcoidosis. In all patients EBB, TBLB and TBNA were performed initially. Subsequently, patients were randomized to group A (EBUS-NA) or group B (EUS-NA). Next, a crossover control test was performed: all patients with negative results in group A underwent EUS- NA and all patients with negative results in the group B underwent EBUS-NA. In case of lack of confirmation of sarcoidosis, mediastinoscopy was performed. RESULTS    There were 106 patients enrolled, and 100 were available for the final analysis. Overall sensitivity and accuracy of standard endoscopic methods were both 64%. When analyzing each of the standard endoscopic methods separately, diagnosis was confirmed with EBB in 12 patients (12%), TBLB in 42 patients (42%) and TBNA in 44 patients (44%). The accuracy and sensitivity of each endosonography technique was statistically significantly higher than that of EBB+TBLB+TBNA (P = 0.0112 and 0.0134).  CONCLUSIONS    Sensitivity and accuracy of EBUS-NA and EUS-NA are significantly higher than the standard endoscopic methods (P <0.01). Sensitivity and accuracy of EUS-NA is higher than EBUS-NA, but the difference is not statistically significant.

Concepts: Statistics, Biopsy, Pathology, Type I and type II errors, Medical tests, Standardization, Biostatistics, Statistical theory


The Crohn’s and Colitis Knowledge (CCKNOW) score does not reflect updated knowledge relating to inflammatory bowel disease (IBD). The aim of this study was to develop, validate, and apply a novel tool to measure disease-related knowledge in IBD patients.

Concepts: Inflammation, Biopsy, Ulcerative colitis, Crohn's disease, Colonoscopy, Gastroenterology, Inflammatory bowel disease, Helminthic therapy


In mammography, breast compression is applied to reduce the thickness of the breast. While it is widely accepted that firm breast compression is needed to ensure acceptable image quality, guidelines remain vague about how much compression should be applied during mammogram acquisition. A quantitative parameter indicating the desirable amount of compression is not available. Consequently, little is known about the relationship between the amount of breast compression and breast cancer detectability. The purpose of this study is to determine the effect of breast compression pressure in mammography on breast cancer screening outcomes.

Concepts: Cancer, Breast cancer, Metastasis, Oncology, Biopsy, Type I and type II errors, Breast, Mammography


Next generation sequencing tests (NGS) are usually performed on relatively small core biopsy or fine needle aspiration (FNA) samples. Data is limited on what amount of tumor by volume or minimum number of FNA passes are needed to yield sufficient material for running NGS. We sought to identify the amount of tumor for running the PCDx NGS platform.

Concepts: Biopsy, Pathology, Medical tests, Needle aspiration biopsy


Data suggest dietary modification can improve clinical responses in inflammatory bowel disease (IBD). The goal of this study was to determine the efficacy of an autoimmune protocol diet in patients with Crohn’s disease and ulcerative colitis.

Concepts: Biopsy, Ulcerative colitis, Crohn's disease, Colonoscopy, Gastroenterology, Inflammatory bowel disease, Autoimmune diseases, Helminthic therapy


The use of circulating cell-free DNA (cfDNA) as a biomarker in transplant recipients offers advantages over invasive tissue biopsy as a quantitative measure for detection of transplant rejection and immunosuppression optimization. However, the fraction of donor-derived cfDNA (dd-cfDNA) in transplant recipient plasma is low and challenging to quantify. Previously reported methods to measure dd-cfDNA require donor and recipient genotyping, which is impractical in clinical settings and adds cost. We developed a targeted next-generation sequencing assay that uses 266 single-nucleotide polymorphisms to accurately quantify dd-cfDNA in transplant recipients without separate genotyping. Analytical performance of the assay was characterized and validated using 1117 samples comprising the National Institute for Standards and Technology Genome in a Bottle human reference genome, independently validated reference materials, and clinical samples. The assay quantifies the fraction of dd-cfDNA in both unrelated and related donor-recipient pairs. The dd-cfDNA assay can reliably measure dd-cfDNA (limit of blank, 0.10%; limit of detection, 0.16%; limit of quantification, 0.20%) across the linear quantifiable range (0.2% to 16%) with across-run CVs of 6.8%. Precision was also evaluated for independently processed clinical sample replicates and is similar to across-run precision. Application of the assay to clinical samples from heart transplant recipients demonstrated increased levels of dd-cfDNA in patients with biopsy-confirmed rejection and decreased levels of dd-cfDNA after successful rejection treatment. This noninvasive clinical-grade sequencing assay can be completed within 3 days, providing the practical turnaround time preferred for transplanted organ surveillance.

Concepts: DNA, Biopsy, Measurement, Single-nucleotide polymorphism, Organ transplant, Detection limit, Quantitative research, Genotyping