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https://www.readbyqxmd.com/read/28636092/impact-of-diagnosis-of-von-willebrand-disease-on-patient-outcomes-analysis-of-medical-insurance-claims-data
#1
R F Sidonio, K M Haley, D Fallaize
The inherited bleeding disorder von Willebrand disease (VWD) is challenging to diagnose owing to disease heterogeneity, lack of a definitive laboratory test and variations in diagnostic criteria. We evaluated the impact of diagnosis and diagnostic delay on patient outcomes. The PharMetrics Plus Database was interrogated for medical claims for VWD (ICD-9 286.4) and bleeding events between 1 January 2006 and 30 June 2015. Longitudinal analysis was performed of patients newly diagnosed with VWD (≥9 months' continuous enrolment before first VWD claim) through 24 months following diagnosis...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28635983/risk-factors-for-re-excision-following-breast-conserving-surgery
#2
Kimberly Rodriguez, Gayle G Wilkins, Patricia Newcomb, Patricia A Gwirtz, Robin Skrine
PURPOSE/OBJECTIVES: To identify previously unstudied factors predicting re-excision following breast-conserving surgery (BCS) and to assess the feasibility of obtaining data about breast density for predictive modeling.
. DESIGN: Retrospective secondary data analysis.
. SETTING: Data were obtained from the cancer registry and electronic health records (EHRs) at Texas Health Harris Methodist Hospital, a large, urban, private, nonprofit hospital in North Texas...
May 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28634563/aspiration-of-aluminum-beverage-can-tab-case-report-and-literature-review
#3
Alhasan N Elghouche, Brian C Lobo, Jonathan Y Ting
We describe the case of a 16-year-old male who aspirated a beverage can tab resulting in significant functional impairment. Since the introduction of beverage can opening tabs ("pop-tops" or "pull-tabs") nearly 50 years ago, five cases of their aspiration have been reported in the literature and this is the first case to report tracheal lodgment. We describe the clinical course for this patient including the inadequacy of radiographic evaluation and a significant delay in diagnosis. We highlight unique features of small aluminum foreign bodies that require consideration and mention a potential change in epidemiology associated with evolving product design...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28634501/subarachnoid-hemorrhage-and-long-term-stroke-risk-after-traumatic-brain-injury
#4
Nicholas A Morris, Joséphine Cool, Alexander E Merkler, Hooman Kamel
BACKGROUND: Recent studies suggest that traumatic brain injury (TBI) is a risk factor for subsequent ischemic stroke, even years after the initial insult. The mechanisms of the association remain unclear. The presence of traumatic subarachnoid hemorrhage (tSAH) may mediate the effect of TBI on long-term stroke risk, as it has previously been linked to short-term vasospasm and delayed cerebral ischemia. METHODS: Using administrative claims data, we conducted a retrospective cohort study of acute care hospitalizations...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#5
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28632203/combined-assessment-of-dyrk1a-bdnf-and-homocysteine-levels-as-diagnostic-marker-for-alzheimer-s-disease
#6
N Janel, P Alexopoulos, A Badel, F Lamari, A C Camproux, J Lagarde, S Simon, C Feraudet-Tarisse, P Lamourette, M Arbones, J L Paul, B Dubois, M C Potier, M Sarazin, J M Delabar
Early identification of Alzheimer's disease (AD) risk factors would aid development of interventions to delay the onset of dementia, but current biomarkers are invasive and/or costly to assess. Validated plasma biomarkers would circumvent these challenges. We previously identified the kinase DYRK1A in plasma. To validate DYRK1A as a biomarker for AD diagnosis, we assessed the levels of DYRK1A and the related markers brain-derived neurotrophic factor (BDNF) and homocysteine in two unrelated AD patient cohorts with age-matched controls...
June 20, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28631957/prognostic-value-of-clinical-and-electrodiagnostic-parameters-at-time-of-diagnosis-in-patients-with-amyotrophic-lateral-sclerosis
#7
Wendeline Reniers, Maarten Schrooten, Kristl G Claeys, Petra Tilkin, Ann D'Hondt, Dimphna Van Reijen, Goedele Couwelier, Nikita Lamaire, Wim Robberecht, Steffen Fieuws, Philip Van Damme
OBJECTIVE: To assess the added prognostic value of the aggregated clinical and electrodiagnostic data, which define a given diagnostic category according to the Awaji or revised El Escorial criteria at time of diagnosis in patients with amyotrophic lateral sclerosis (ALS). METHODS: Clinical signs and electrodiagnostic test results were collected at time of diagnosis in 396 patients with ALS between January 2009 and January 2016. Significant predictors of prognosis were identified using a univariate model, and later combined in a multivariate Cox regression model...
February 15, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28631658/a-case-of-aspergillus-tracheobronchitis-in-a-patient-with-chronic-obstructive-pulmonary-disease
#8
Ming-Li Yuan, Gang Yang, Hong-Ling Hu, Wen Yin, Wei-Jun Tan, Su Zhao
Aspergillus tracheobronchitis (AT) is a unique form of invasive pulmonary aspergillosis, which is commonly found in patients with impaired immunity. Early-stage AT presents in a nonspecific way, both clinically and radiographically, thereby delaying diagnosis and resulting in a high mortality. Owing to impaired mucociliary clearance, previous nonfungal infections, and administration of corticosteroids, among other aspects, patients with chronic obstructive pulmonary disease (COPD) are predisposed to AT, although they are mostly immunocompetent...
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28631133/bone-density-in-pediatric-crohn-s-disease-a-cross-sectional-observation-from-south-india
#9
Shiraz Salim Khan, Sagar S Patil
BACKGROUND: Crohn's disease (CD) frequently manifests in the second and third decades of life. Malnutrition and corticosteroid therapy may affect bone mineralization and delay bone growth. Our aim was to study bone mineral density and factors associated low bone mineral density (BMD) in pediatric CD. METHODS: A cross-sectional observational study in children with CD (aged 5 to <18 years) was done. Demographic and treatment details were noted. Vitamin D levels <20 ng/mL were considered as deficiency...
June 20, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#10
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28630839/septic-arthritis-of-the-hip-complicated-by-secondary-fungal-superinfection
#11
Scott Matthews, Sam Sloan, Daniel McCaffrey, Angel Ruiz
INTRODUCTION: Fungal joint infection can lead to serious consequences for those affected. It can often be a delayed diagnosis due to initial negative organism growth or lack of clinician awareness. Treatment should be early and aggressive to prevent patient morbidity and mortality. CASE REPORT: We present a case of staphylococcal septic arthritis of the native hip joint with secondary superinfection by Candida albicans in a young patient with no appreciable risk factors...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630837/excision-of-solitary-osteochondroma-on-the-ventral-aspect-of-left-scapula-presenting-as-pseudowinging-in-a-4-year-old-boy-a-rare-case-report
#12
P Hegin Tungdim, I Ibomcha Singh, Sagnik Mukherjee, Tobu Pertin
INTRODUCTION: Osteochondroma is a benign bony lesion with cartilaginous cap occurring usually in long bones, but flat bones may also be involved, either isolated or as a part of a syndrome. Usually, they are asymptomatic, but appearance of symptoms such as mass effect may warrant surgical intervention, which is usually delayed till skeletal maturity. CASE REPORT: A 4-year-old male child presented with swelling on ventral aspect of inferior angle of scapula associated with pain, pseudowinging of scapula, and snapping sound of the left shoulder on movement...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630834/van-neck-odelberg-disease-a-rare-case-report
#13
Amit Prakash Chaudhari, Gautam Shah, Sameer Sanjeev Patil, Aashish Babanrao Ghodke, Sagar B Kelkar
INTRODUCTION: Pain in groin without any history of trauma or positive clinical findings of infection or stress fracture in ischiopubic ramus poses challenges in diagnosis of the condition in prepubertal age. "Osteochondrosis of ischiopubic synchondrosis (IPS)" also called as "Van Neck-Odelberg" disease. Left leg dominant patient presented with pain in groin and limping with left leg dominance. Differential diagnosis - such as stress fractures, osteomyelitis, tuberculosis, post-traumatic osteolysis, or any neoplasia - is need be ruled out to arrive at diagnosis...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630763/malignant-tumours-of-the-foot-and-ankle
#14
E Mascard, N Gaspar, L Brugières, C Glorion, S Pannier, A Gomez-Brouchet
Most of tumours of the foot are tumour-like (synovial cyst, foreign body reactions and epidermal inclusion cyst) or benign conditions (tenosynovial giant cells tumours, planta fibromatosis). Malignant tumours of the soft-tissue and skeleton are very rare in the foot and their diagnosis is often delayed with referral to specialised teams after initial inappropriate procedures or unplanned excisions. The adverse effect of these misdiagnosed tumours is the increasing rate of amputation or local recurrences in the involved patients...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28629675/misdiagnosis-is-an-important-factor-for-diagnostic-delay-in-mcardle-disease
#15
Renata Siciliani Scalco, Jasper M Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45)...
May 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629400/characteristics-of-syphilitic-uveitis-in-northern-china
#16
Xiaomin Zhang, Qian Du, Feifei Ma, Yinglong Lu, Meiyan Wang, Xiaorong Li
BACKGROUND: To describe the characteristics of patients with syphilitic uveitis in northern China. METHODS: A case series of 21 patients (33 eyes) diagnosed with syphilitic uveitis from 2011 to 2016 at a tertiary center in northern China was retrospectively analyzed. RESULTS: Twenty-one patients (33 eyes) were diagnosed as syphilitic uveitis. Posterior segment involvement was found in 32 eyes (97.0%). Vitreous haze, neuroretinitis, and posterior placoid chorioretinitis were mainly found in patients with a relatively short duration of the disease, while diffuse chorioretinitis, pseudoretinitis pigmentosa, cystoid macular edema, and epiretinal membrane were found in patients with relatively long duration of ocular involvement...
June 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28628467/juvenile-and-adult-onset-systemic-lupus-erythematosus-a-comparative-study-in-a-large-cohort-from-the-spanish-society-of-rheumatology-lupus-registry-relesser
#17
Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, Fernando Sánchez-Alonso, Francisco Javier López-Longo, María Galindo-Izquierdo, Jaime Calvo-Alén, Alejandro Olivé-Marqués, Jesús Ibañez-Ruán, Loreto Horcada, Ana Sánchez-Atrio, Carlos Montilla, Rafael Benito Melero González, Elvira Díez-Álvarez, Victor Martinez-Taboada, José Luis Andreu, Olaia Fernández-Berrizbeitia, José Ángel Hernández-Beriain, Marian Gantes, Blanca Hernández-Cruz, Ángela Pecondón-Español, Carlos Marras, Gema Bonilla, José M Pego-Reigosa
OBJECTIVES: We aimed to describe juvenile-onset systemic lupus erythematosus (jSLE) features and to establish its differences compared to adult-onset SLE (aSLE) from a large national database. METHODS: Data from patients (≥4 ACR criteria) included in Spanish Society of Rheumatology Lupus Registry (RELESSER) were analysed. Sociodemographic, clinical, serological, activity, treatment, cumulative damage, comorbidities and severity data were collected. Patients with disease onset <18 years were described and compared to those with disease onset ≥18 years...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28628343/chronic-herpetic-retinitis-clinical-features-and-long-term-outcomes
#18
Soufiane Souissi, Christine Fardeau, Hoang Mai Le, Flore Rozenberg, Bahram Bodaghi, Phuc Le Hoang
INTRODUCTION: Chronic uveitis treated with immunosuppressive agents may have unfavorable outcomes due to delays in diagnosis. The aim of this study was to review initial data from clinical and ocular assessments and patient outcomes following specific treatments for atypical herpes virus ocular infections. METHODS: The records of four consecutive patients with recurrent uveitis for at least five years treated in our department between 2001 and 2016 were retrospectively reviewed...
June 19, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#19
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628018/autoimmune-limbic-encephalitis-case-reports
#20
K Kobaidze, A Harrison, Y Burklin, V Patidar, M Riccardi
Limbic encephalitis (LE) is an autoimmune or paraneoplastic disease that affects the medial temporal lobes. The patient will usually present with cognitive impairment, psychiatric changes, and seizures. Autoimmune limbic encephalitis (LE) is a challenging diagnosis as it is not always included in the typical paraneoplastic/autoimmune panels. Anti-GAD antibodies are associated with various disease including type I diabetes mellitus, various autoimmune processes, some neoplastic and infectious diseases. Thus, it is not as specific as some of the antibodies causing LE...
May 2017: Georgian Medical News
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