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https://www.readbyqxmd.com/read/28647656/delayed-retroclival-and-cervical-spinal-subdural-hematoma-complicated-by-pre-existing-chiari-malformation-in-an-adult-trauma-patient
#1
Ha Nguyen, Hoon Choi, Shekar Kurpad, Hesham Soliman
INTRODUCTION: Traumatic spinal subdural hematoma involving the retroclival region and upper cervical spine is a rare pathology. To our knowledge, there have only been two prior cases in an adult trauma patient. We describe a patient with pre-existing Chiari 1 malformation, who recently sustained a unilateral Type 1 OCF (occipital condyle fracture) with associated disruption of the tectorial membrane and transverse ligament, that returned with a retroclival subdural hematoma extending down to C7, causing spinal cord compression and symptomatic obstructive hydrocephalus...
June 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28647623/proximal-femoral-osteosarcoma-diagnostic-challenges-translate-into-delayed-and-inappropriate-management
#2
M Dahan, P Anract, A Babinet, F Larousserie, D Biau
BACKGROUND: The proximal femuris an uncommon site of osteosarcoma. The unusual manifestations at this site may lead to diagnostic and therapeutic mistakes. We therefore performed a retrospective studyto estimate the proportions of patients with imaging study findings and/or clinical manifestations typical for osteosarcoma and/or inappropriate treatment decisions. HYPOTHESIS: Proximal femoral osteosarcoma often produces atypical clinical and radiological presentations...
June 21, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28646886/implementation-science-for-ambulatory-care-safety-a-novel-method-to-develop-context-sensitive-interventions-to-reduce-quality-gaps-in-monitoring-high-risk-patients
#3
Kathryn M McDonald, George Su, Sarah Lisker, Emily S Patterson, Urmimala Sarkar
BACKGROUND: Missed evidence-based monitoring in high-risk conditions (e.g., cancer) leads to delayed diagnosis. Current technological solutions fail to close this safety gap. In response, we aim to demonstrate a novel method to identify common vulnerabilities across clinics and generate attributes for context-flexible population-level monitoring solutions for widespread implementation to improve quality. METHODS: Based on interviews with staff in otolaryngology, pulmonary, urology, breast, and gastroenterology clinics at a large urban publicly funded health system, we applied journey mapping to co-develop a visual representation of how patients are monitored for high-risk conditions...
June 24, 2017: Implementation Science: IS
https://www.readbyqxmd.com/read/28646854/treatment-delay-and-fatal-outcomes-of-pulmonary-tuberculosis-in-advanced-age-a-retrospective-nationwide-cohort-study
#4
Chih-Hsin Lee, Jann-Yuan Wang, Hsien-Chun Lin, Pai-Yang Lin, Jer-Hwa Chang, Chi-Won Suk, Li-Na Lee, Chou-Chin Lan, Kuan-Jen Bai
BACKGROUND AND OBJECTIVE: Studies focusing on pulmonary tuberculosis in advanced age (≥80 years) are lacking. This study aimed to explore treatment delay, outcomes and their predictors in this group. METHODS: Adult (≥20 years) patients with pulmonary tuberculosis were identified from the National Health Insurance Research Database of Taiwan from 2004 to 2009. Treatment completion and mortality rates were noted at one year after treatment. RESULTS: Among the 81,081 patients with pulmonary tuberculosis identified, 13,923 (17...
June 24, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#5
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28645967/the-bipolar-illness-onset-study-research-protocol-for-the-bio-cohort-study
#6
Lars Vedel Kessing, Klaus Munkholm, Maria Faurholt-Jepsen, Kamilla Woznica Miskowiak, Lars Bo Nielsen, Ruth Frikke-Schmidt, Claus Ekstrøm, Ole Winther, Bente Klarlund Pedersen, Henrik Enghusen Poulsen, Roger S McIntyre, Flavio Kapczinski, Wagner F Gattaz, Jakob Bardram, Mads Frost, Oscar Mayora, Gitte Moos Knudsen, Mary Phillips, Maj Vinberg
INTRODUCTION: Bipolar disorder is an often disabling mental illness with a lifetime prevalence of 1%-2%, a high risk of recurrence of manic and depressive episodes, a lifelong elevated risk of suicide and a substantial heritability. The course of illness is frequently characterised by progressive shortening of interepisode intervals with each recurrence and increasing cognitive dysfunction in a subset of individuals with this condition. Clinically, diagnostic boundaries between bipolar disorder and other psychiatric disorders such as unipolar depression are unclear although pharmacological and psychological treatment strategies differ substantially...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28643747/leiomyosarcoma-of-scrotum-a-rare-in-field-second-malignancy-in-a-previously-irradiated-carcinoma-of-prostate-and-review-of-literature
#7
Chelakkot G Prameela, Rahul Ravind
BACKGROUND: Curative intent treatments for malignancies using radiation therapy while achieving longer disease-free survivals, may also lead to solid second malignancies, a dreaded late complication. Both in-field as well as out-field second malignancies are encountered and lead to diagnostic dilemma, and delay in treatment. MATERIALS AND METHODS: Details of a case of rare, in-field, radiation induced leiomyosarcoma, a rare soft tissue sarcoma, in a treated case of high risk carcinoma of prostate, who presented to our tertiary care centre was retrieved and analysed...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28643616/advanced-neuroimaging-of-carbon-monoxide-poisoning
#8
Marco Varrassi, Alessandra Di Sibio, Camilla Gianneramo, Marco Perri, Giorgia Saltelli, Alessandra Splendiani, Carlo Masciocchi
Carbon monoxide (CO) inhalation is nowadays the most common cause of fatal poisoning worldwide. CO binds to haemoglobin 230-270 times more avidly than oxygen, thus leading to formation of carboxyhaemoglobin with subsequent reduction of tissue oxygenation. Brain is mainly affected due to its high oxygen requirement. Up to two-thirds of patients who survive the acute phase of this pathology present a delayed leukoencephalopathy, usually in a period ranging from two to 40 days. White matter damage closely relates to long-term prognosis of these patients...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28642162/ngs-panel-analysis-in-24-ectopia-lentis-patients-a-clinically-relevant-test-with-a-high-diagnostic-yield
#9
E Overwater, K Floor, D van Beek, K de Boer, T van Dijk, Y Hilhorst-Hofstee, A J M Hoogeboom, K J van Kaam, J M van de Kamp, M Kempers, I P C Krapels, H Y Kroes, B Loeys, S Salemink, C T R M Stumpel, V J M Verhoeven, E Wijnands-van den Berg, J M Cobben, J P van Tintelen, M M Weiss, A C Houweling, A Maugeri
BACKGROUND: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relatives. Next generation sequencing (NGS) is a powerful tool enabling the simultaneous, highly-sensitive analysis of multiple target genes. OBJECTIVE: The aim of this study was to evaluate the diagnostic yield of our NGS panel in EL patients...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28641365/ultrasonography-guided-14-gauge-core-biopsy-of-the-breast-results-of-7-years-of-experience
#10
Inha Jung, Min Jung Kim, Hee Jung Moon, Jung Hyun Yoon, Eun-Kyung Kim
Purpose: This study assessed the outcomes of ultrasound (US)-guided core needle biopsies (CNBs) of breast lesions with at least 2 years of follow-up to determine the false-negative rate and to evaluate the diagnostic accuracy of CNB. Methods: We retrospectively analyzed 13,254 consecutive US-guided 14-gauge CNBs for breast lesions. We excluded biopsies if non-malignant biopsy result was not confirmed by surgical excision or US-guided vacuum-assisted biopsy, or fewer than 2 years of follow-up data were available...
May 17, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28640860/the-path-to-specialist-multidisciplinary-care-in-amyotrophic-lateral-sclerosis-a-population-based-study-of-consultations-interventions-and-costs
#11
Miriam Galvin, Padhraig Ryan, Sinead Maguire, Mark Heverin, Caoifa Madden, Alice Vajda, Charles Normand, Orla Hardiman
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be non-specific, which may prolong patients' journey to multidisciplinary ALS care. METHODS: Using chart review and national register data, we have detailed the journey of a national cohort of ALS patients (n = 155) from the time of first symptom to presentation at a multidisciplinary clinic (MDC)...
2017: PloS One
https://www.readbyqxmd.com/read/28640214/a-pilot-randomized-cross-over-trial-to-examine-the-effect-of-kiwifruit-on-satiety-and-measures-of-gastric-comfort-in-healthy-adult-males
#12
Alison Wallace, Sarah Eady, Lynley Drummond, Duncan Hedderley, Juliet Ansell, Richard Gearry
'Hayward' kiwifruit anecdotally are associated with improved gastrointestinal comfort following the consumption of high protein meals, possibly because of the presence of a protease enzyme, actinidin. The study aimed to use SmartPill™ technology to investigate the acute effect of kiwifruit with actinidin (Actinidia chinensis var. deliciosa 'Hayward') and kiwifruit without actinidin (A. chinensis var. chinensis 'Hort16A') on digestion of a large protein meal. Ten healthy male subjects were recruited. The participants attended the clinic three times, having fasted overnight...
June 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28638982/image-quality-at-synthetic-brain-magnetic-resonance-imaging-in-children
#13
So Mi Lee, Young Hun Choi, Jung-Eun Cheon, In-One Kim, Seung Hyun Cho, Won Hwa Kim, Hye Jung Kim, Hyun-Hae Cho, Sun-Kyoung You, Sook-Hyun Park, Moon Jung Hwang
BACKGROUND: The clinical application of the multi-echo, multi-delay technique of synthetic magnetic resonance imaging (MRI) generates multiple sequences in a single acquisition but has mainly been used in adults. OBJECTIVE: To evaluate the image quality of synthetic brain MR in children compared with that of conventional images. MATERIALS AND METHODS: Twenty-nine children (median age: 6 years, range: 0-16 years) underwent synthetic and conventional imaging...
June 22, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28638968/-large-vessel-vasculitis-giant-cell-arteritis-and-takayasu-arteritis
#14
P M Villiger
According to the Chapel Hill Classification, large vessel vasculitides encompass giant cell arteritis (GCA) and the histologically related Takakaysu arteritis (TAK). The two diseases lack autoantibodies and present with a systemic inflammatory response. GCA typically shows a sudden onset with profound sickness, loss of appetite and of body weight, and temporal headache. Due to the substantial risk of sudden blindness, diagnostic work-up has to be performed immediately and treatment started without delay. A close association between polymyalgia rheumatica (PMR) and GCA is well established...
June 21, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28638895/chronic-orofacial-pain-burning-mouth-syndrome-and-other-neuropathic-disorders
#15
Raymond C Tait, McKenzie Ferguson, Christopher M Herndon
Chronic orofacial pain is a symptom associated with a wide range of neuropathic, neurovascular, idiopathic, and myofascial conditions that affect a significant proportion of the population. While the collective impact of the subset of the orofacial pain disorders involving neurogenic and idiopathic mechanisms is substantial, some of these are relatively uncommon. Hence, patients with these disorders can be vulnerable to misdiagnosis, sometimes for years, increasing the symptom burden and delaying effective treatment...
March 2017: Journal of Pain Management & Medicine
https://www.readbyqxmd.com/read/28638573/acute-intermittent-porphyria-a-test-of-clinical-acumen
#16
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#17
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28636092/impact-of-diagnosis-of-von-willebrand-disease-on-patient-outcomes-analysis-of-medical-insurance-claims-data
#18
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/28634900/review-of-physical-urticarias-and-testing-methods
#19
REVIEW
Mario Sánchez-Borges, Luis González-Aveledo, Fernan Caballero-Fonseca, Arnaldo Capriles-Hulett
PURPOSE OF REVIEW: This review aims to update the information available on the prevalence, clinical picture, diagnostic methods, and treatment of urticarias induced by external physical stimuli. RECENT FINDINGS: Physical urticarias are present in up to 5% of the general population, and in 10 to 50% of patients with chronic urticaria. Recent investigations have provided evidence that the presence of physical urticaria alone or when comorbid with chronic spontaneous urticaria is associated with a worse prognosis and duration...
August 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28633460/guidelines-for-composing-and-assessing-a-paper-on-treatment-of-pain
#20
Nikolai Bogduk, David J Kennedy, Yakov Vorobeychik, Andrew Engel
Authors, readers, and editors share a common focus. Authors want to publish their work. Readers want to see high-quality, new information. Referees and editors serve to ensure that authors provide valid conclusions based on the quality of information that readers want. Common to each of these roles are instructions to authors. However, these are typically written in an uninspiring, legalistic style, as if they are a set of rules that authors must obey if they expect to get published. This renders the instructions boring and oppressive, if not forbidding...
June 17, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
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