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Clinical diagnostics

Mariella G Filbin, Dominik Sturm
Gliomas are the most common primary central nervous system (CNS) neoplasms in children and adolescents and are thought to arise from their glial progenitors or stem cells. Although the exact cells of origin for most pediatric gliomas remain to be identified, our current understanding is that specific cell populations during CNS development are susceptible to particular oncogenic events during certain time windows and thus give rise to pediatric gliomas with distinct histological, molecular, and clinical features...
February 2018: Seminars in Neurology
Scott R Plotkin, Antje Wick
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed...
February 2018: Seminars in Neurology
Maria Martinez-Lage, Felix Sahm
The updated 2016 WHO classification of Central Nervous System tumors introduced a novel concept of neuropathology diagnostics. Molecular parameters are now included into the definition of several entities. This evolution from a previously purely histology-based classification to an integrated approach of histology and genetic characteristics has implications in daily diagnostic and clinical practice. Both the spectrum of diagnostic workup demanded from the neuropathologist and the range of relevant markers to be considered by clinicians and clinical investigators have increased...
February 2018: Seminars in Neurology
Robin Patel, Ferric C Fang
Recent advances in microbial diagnostics are providing clinicians with information about microbes causing infections and their resistance to antimicrobial agents more rapidly than ever before. Diagnostic stewardship refers to the appropriate use of laboratory testing to guide patient management, including treatment, in order to optimize clinical outcomes and limit the spread of antimicrobial resistance. Fulfilling the promise of diagnostic stewardship requires a seamless partnership between clinical laboratories, pharmacists, and infectious diseases clinicians, so that appropriate tests are ordered and diagnostic information is translated into appropriate management in real time...
March 14, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Jiannan Dai, Lei Xing, Haibo Jia, Yinchun Zhu, Shaotao Zhang, Sining Hu, Lin Lin, Lijia Ma, Huimin Liu, Maoen Xu, Xuefeng Ren, Huai Yu, Lulu Li, Yanan Zou, Shaosong Zhang, Gary S Mintz, Jingbo Hou, Bo Yu
Aims: Plaque erosion is a significant substrate of acute coronary thrombosis. This study sought to determine in vivo predictors of plaque erosion in patients with ST-segment elevation myocardial infarction (STEMI). Methods and results: A prospective series of 822 STEMI patients underwent pre-intervention optical coherence tomography. Using established diagnostic criteria, 209 had plaque erosion (25.4%) and 564 had plaque rupture (68.6%). Plaque erosion was more frequent in women <50 years when compared with those ≥50 years of age (P = 0...
March 13, 2018: European Heart Journal
Eric B Elbogen, H Ryan Wagner, Mira Brancu, Nathan A Kimbrel, Jennifer C Naylor, Cindy M Swinkels, John A Fairbank
Introduction: In response to a strong focus on suicide prevention for all veterans, the Department of Veterans Affairs (VA) recently revised policy to provide emergency mental healthcare for veterans who received Other Than Honorable (OTH) discharges from the military. This current study takes a preliminary step toward identifying demographic, historic, military, clinical, and social characteristics of veterans with OTH discharges. Materials and Methods: N = 1,172 Iraq/Afghanistan-era veterans were evaluated between 2005 and 2016 in the multi-site VA Mid-Atlantic Mental Illness, Research, Education and Clinical Center (MIRECC) Study of Post-Deployment Mental Health (PDMH Study)...
March 14, 2018: Military Medicine
Tristan Pascart, Frédéric Lioté
This review article summarizes the relevant English literature on gout from 2010 through April 2017. It emphasizes that the current epidemiology of gout indicates a rising prevalence worldwide, not only in Western countries but also in Southeast Asia, in close relationship with the obesity and metabolic syndrome epidemics. New pathogenic mechanisms of chronic hyperuricaemia focus on the gut (microbiota, ABCG2 expression) after the kidney. Cardiovascular and renal comorbidities are the key points to consider in terms of management...
March 13, 2018: Rheumatology
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
Davina Gale, Andrew R J Lawson, Karen Howarth, Mikidache Madi, Bradley Durham, Sarah Smalley, John Calaway, Shannon Blais, Greg Jones, James Clark, Peter Dimitrov, Michelle Pugh, Samuel Woodhouse, Michael Epstein, Ana Fernandez-Gonzalez, Alexandra S Whale, Jim F Huggett, Carole A Foy, Gerwyn M Jones, Hadas Raveh-Amit, Karin Schmitt, Alison Devonshire, Emma Green, Tim Forshew, Vincent Plagnol, Nitzan Rosenfeld
INTRODUCTION: Detection and monitoring of circulating tumor DNA (ctDNA) is rapidly becoming a diagnostic, prognostic and predictive tool in cancer patient care. A growing number of gene targets have been identified as diagnostic or actionable, requiring the development of reliable technology that provides analysis of multiple genes in parallel. We have developed the InVision™ liquid biopsy platform which utilizes enhanced TAm-Seq™ (eTAm-Seq™) technology, an amplicon-based next generation sequencing method for the identification of clinically-relevant somatic alterations at low frequency in ctDNA across a panel of 35 cancer-related genes...
2018: PloS One
Lois D Hedman, Lori Quinn, Kathleen Gill-Body, David A Brown, Myla Quiben, Nora Riley, Patricia L Scheets
BACKGROUND AND PURPOSE: The APTA recently established a vision for physical therapists to transform society by optimizing movement to promote health and wellness, mitigate impairments, and prevent disability. An important element of this vision entails the integration of the movement system into the profession, and necessitates the development of movement system diagnoses by physical therapists. At this point in time, the profession as a whole has not agreed upon diagnostic classifications or guidelines to assist in developing movement system diagnoses that will consistently capture an individual's movement problems...
April 2018: Journal of Neurologic Physical Therapy: JNPT
Dario Graceffa, Claudio Bonifati, Viviana Lora, Pier Luigi Saraceni, Catia De Felice, Maria Sole Chimenti, Roberto Perricone, Aldo Morrone
BACKGROUND: The inflammatory involvement of the enthesis in the course of psoriasis is accompanied by structural abnormalities detectable by ultrasound. The most common of these abnormalities is the thickening of the tendon at the insertion site. AIMS: The aim of the present study was to compare the thickness of entheses of patients with psoriatic arthritis, only skin psoriasis, and healthy controls. METHODS: A cross-sectional study was conducted in a cohort of patients affected with either only skin psoriasis or psoriatic arthritis as well as in a control group...
March 16, 2018: Indian Journal of Dermatology, Venereology and Leprology
Takuma Ohmichi, Masaki Kondo, Masahiro Itsukage, Hidetaka Koizumi, Shigenori Matsushima, Nagato Kuriyama, Kazunari Ishii, Etsuro Mori, Kei Yamada, Toshiki Mizuno, Takahiko Tokuda
OBJECTIVE The gold standard for the diagnosis of idiopathic normal pressure hydrocephalus (iNPH) is the CSF removal test. For elderly patients, however, a less invasive diagnostic method is required. On MRI, high-convexity tightness was reported to be an important finding for the diagnosis of iNPH. On SPECT, patients with iNPH often show hyperperfusion of the high-convexity area. The authors tested 2 hypotheses regarding the SPECT finding: 1) it is relative hyperperfusion reflecting the increased gray matter density of the convexity, and 2) it is useful for the diagnosis of iNPH...
March 16, 2018: Journal of Neurosurgery
Ines Nakouri, Noureddine Litaiem, Mariem Jones, Faten Zeglaoui
Retronychia is a newly described condition characterized by the embedding of the nail plate into the proximal nail fold. It mainly affects the great toe unilaterally as a result of mechanical factors. It is rarely reported, and its pathogenesis is not fully understood. Nail plate avulsion represents both a diagnostic and a therapeutic approach. We describe a 34-year-old woman with a medical history of congenital malalignment of the toenails, diagnosed as having retronychia, and emphasize the disease pathogenesis and surgical procedure...
January 2018: Journal of the American Podiatric Medical Association
Liyun Cao, Chi Hyun Lee, Jing Ning, Beverly C Handy, Elizabeth A Wagar, Qing H Meng
CONTEXT: - Prostate cancer antigen 3 (PCA3) is a noncoding RNA that is highly overexpressed in prostate cancer (PCa) tissue and excreted in urine in patients with PCa. OBJECTIVE: - To assess the clinical utility of urinary PCA3 in men at risk of PCa. DESIGN: - We retrospectively reviewed a cohort of 271 men (median age, 63 years) with elevated prostate-specific antigen (PSA), and/or strong family history, and/or abnormal digital rectal examination findings...
March 16, 2018: Archives of Pathology & Laboratory Medicine
Oscar Correa Jiménez, María Buendía De Ávila, Edwin Parra Montes, Juan Davidson Córdoba, Rodrigo De Vivero Camacho
No abstract text is available yet for this article.
December 2017: Revista Chilena de Pediatría
D Valenzuela, F Moya, M Luco, J L Tapia
50 years ago, Northway described Broncopulmonary Dysplasia (BPD) in preterm infants exposed to mechanical ventilation. Since then, their survival has increased, nevertheless a "new BPD" has appeared and its incidence has not diminished. One of the characteristics of this pathology is the the abnormal vascular remodeling, which in its most severe expression is known as Pulmonary Hyper tension (PH); with an incidence of 17% in patients with BPD, which is proportional to the severity of the disease (33% in severe BPD), and as mortality factor (up to 48% 2-year mortality in PH-BPD)...
December 2017: Revista Chilena de Pediatría
Stefanie J Schmidt, Ayla Behar, Frauke Schultze-Lutter
Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge This case-study deals with the often difficult differential diagnosis of Asperger syndrome and a clinical high risk state of psychosis, in particular as indicated by attenuated psychotic symptoms, as well as with its therapeutic implications. The presented case is a 10-year old girl, who has not been diagnosed with an autism spectrum disorder before being referred to a specialized center for early detection of psychosis due to possible hallucinatory experiences and delusional ideas...
March 2018: Praxis der Kinderpsychologie und Kinderpsychiatrie
E Littlejohn, W Marder, E Lewis, S Francis, J Jackish, W J McCune, E C Somers
Background Both C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) can be elevated in systemic lupus erythematosus (SLE) flare and infection, and are therefore of limited utility for distinguishing between the two conditions in febrile SLE patients. Methods A medical records review of hospitalizations (1997-2006) of SLE patients in the Michigan Lupus Cohort was performed. Eligible hospitalizations were those in which patients presented with a temperature of >100.3°F or with subjective fevers as a presenting complaint at admission...
January 1, 2018: Lupus
Stephan Petersenn
Secondary adrenal insufficiency may pose specific challenges during pregnancy. The interpretation of diagnostic tests is hindered by physiological adaptations of the HPA axis. Due the relevant increases in CBG, measurement of salivary cortisol may be preferable, but lacks sufficiently established cut-offs both for early-morning evaluation and during dynamic testing. Hydrocortisone should be used for replacement to avoid overexposure of the fetus, with dose adjustments according to clinical judgement. To account for increased free cortisol levels during the course of pregnancy, hydrocortisone may be increased by 5-7...
March 15, 2018: Minerva Endocrinologica
C Sparano, G Parenti, A Cilotti, L Bencini, M Calistri, E Mannucci, C Biagini, V Vezzosi, M Mannelli, G Forti, L Petrone
BACKGROUND: The increasing frequency in the diagnosis of thyroid nodules has raised a growing interest in the search for new diagnostic tools to better select patients deserving surgery. In 2014, the major Italian Societies involved in the field drafted a new cytological classification, to better stratify pre-surgical risk of thyroid cancer, especially for the indeterminate category, split into TIR3A and TIR3B subclasses, associated to different therapeutic decisions. MATERIALS AND METHODS: This retrospective cross-sectional survey analyzed thyroid fine-needle aspiration biopsy performed at our outpatient clinic before and after the introduction of the new SIAPEC-IAP consensus in May 2014...
March 15, 2018: Journal of Endocrinological Investigation
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