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https://www.readbyqxmd.com/read/28816877/fractures-in-spinal-ankylosing-disorders-a-narrative-review-of-disease-and-injury-types-treatment-techniques-and-outcomes
#1
Tarush Rustagi, Doniel Drazin, Cumhur Oner, Jonathan York, Gregory D Schroeder, Alexander R Vaccaro, Rod J Oskouian, Jens R Chapman
INTRODUCTION: Spinal ankylosing disorders encompass ankylosing spondylitis (AS), disseminated hyperostosis of the spine, and end-stage spondylosis. All these result in a stiffened and frequently deformed spinal column. This makes the spinal column highly susceptible to severe injuries that are commonly associated with unfavorable outcomes. Improved understanding of the underlying disease processes and clinical comorbidities may alter the poor injury related morbidity and mortality outcomes...
September 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28816800/acute-sickle-cell-orbitopathy-masquerading-as-orbital-cellulitis
#2
Christopher M Stewart, Zuzana Sipkova, Goran D Hildebrand, Jonathan H Norris
Sickle cell orbitopathy is a rare manifestation of a sickle cell crisis and can closely mimic orbital cellulitis, both clinically and radiologically. We present a case where a child presented with what was thought to be orbital cellulitis and was treated accordingly. Subtle radiologic features of sickle cell orbitopathy were initially overlooked, resulting in an incorrect diagnosis and a treatment delay for the patient. Correctly treated most cases resolve with no adverse affects, highlighting how important it is to consider acute sickle cell orbitopathy in the differential diagnosis of acute periorbital swelling in children with sickle disease...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28815955/the-role-of-iqsec2-in-syndromic-intellectual-disability-narrowing-the-diagnostic-odyssey
#3
Benjamin M Helm, Zoe Powis, Carlos E Prada, Olga L Casasbuenas-Alarcon, Tonya Balmakund, G B Schaefer, Stephen G Kahler, Julie Kaylor, Susan Winter, Yuri A Zarate, Samantha A Schrier Vergano
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815849/molecular-aspects-of-uterine-diseases-in-dogs
#4
REVIEW
R Hagman
Uterine diseases are common in dogs, particularly in countries where elective spaying is not usually performed. The associated clinical illnesses may be of varying degree ranging from merely decreased fertility to a critical pyometra requiring intensive care to survive. The diagnosis of some uterine diseases is generally uncomplicated, such as in a classic pyometra presenting with enlarged, fluid-filled uterus, purulent vaginal discharge and characteristic signs of illness or in other disorders associated with uterine enlargement...
August 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28815803/validity-of-cancer-diagnosis-in-the-national-health-insurance-database-compared-with-the-linked-national-cancer-registry-in-taiwan
#5
Wei-Heng Kao, Ji-Hong Hong, Lai-Chu See, Huang-Ping Yu, Jun-Te Hsu, I-Jun Chou, Wen-Chi Chou, Meng-Jiun Chiou, Chun-Chieh Wang, Chang-Fu Kuo
PURPOSE: We aimed to evaluate the validity of cancer diagnosis in the National Health Insurance (NHI) database, which has routinely collected the health information of almost the entire Taiwanese population since 1995, compared with the Taiwan National Cancer Registry (NCR). METHODS: There were 26,542,445 active participants registered in the NHI database between 2001 and 2012. National Cancer Registry and NHI database records were compared for cancer diagnosis; date of cancer diagnosis; and 1, 2, and 5 year survival...
August 16, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#6
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
August 16, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28814904/the-journey-of-rheumatoid-arthritis-patients-a-review-of-reported-lag-times-from-the-onset-of-symptoms
#7
REVIEW
Alaa S Barhamain, Rami F Magliah, Mohammad H Shaheen, Shurooq F Munassar, Ayman M Falemban, Mohammed M Alshareef, Hani M Almoallim
BACKGROUND: Even after achieving tremendous advances in diagnosis and treatment of rheumatoid arthritis (RA), many of the patients undergo delays in diagnosis and initiation of treatment, which leads to worsening of the condition and poor prognosis. OBJECTIVE: The objective of this study was to perform a literature review to quantify the lag times in diagnosis and treatment of RA and study the reported factors associated with it. METHODS: The authors searched literature published until September 2016 in electronic full-text and abstract databases and hand-searched the suitable articles...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28814542/fragile-x-newborn-screening-lessons-learned-from-a-multisite-screening-study
#8
Donald B Bailey, Elizabeth Berry-Kravis, Louise W Gane, Sonia Guarda, Randi Hagerman, Cynthia M Powell, Flora Tassone, Anne Wheeler
BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. METHODS: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814249/the-neurological-sequelae-of-neonatal-hyperbilirubinemia-definitions-diagnosis-and-treatment-of-the-kernicterus-spectrum-disorders-ksds
#9
Steven Shapiro, Jean Baptiste Le Pichon, Sean M Riordan, Jon Watchkoe
Despite its lengthy history the study of benign jaundice, hyperbilirubinemia and kernicterus suffers from a lack of clarity and consistency in the key terms used to describe both the clinical and pathophysiological nature of these conditions. This has led to multiple terms being used to describe similar conditions (i.e. kernicterus and chronic bilirubin encephalopathy) or the same term being used to describe different concepts (i.e. BIND as a descriptor of the signs of bilirubin neurotoxicity, mild kernicterus, or as a scale to assess bilirubin toxicity)...
August 14, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28812929/message-received-african-american-women-and-breast-cancer-screening
#10
Susan Racine Passmore, Kester F Williams-Parry, Erica Casper, Stephen B Thomas
African American women are more likely than other women to be diagnosed with breast cancer at a young age, to be diagnosed at a late stage, and to die from the disease. Yet we see evidence of irregular screening and follow-up. Previous research on psychosocial factors influencing decisions to screen reveals barriers: fear, fatalistic perceptions of cancer, inaccurate perceptions of risk, and associations with stigma. The current qualitative research with, largely, insured African American women ( n = 26), health navigators ( n = 6), and community stakeholders ( n = 24) indicates both positive and negative factors influencing decision making...
September 2017: Health Promotion Practice
https://www.readbyqxmd.com/read/28812127/-uveitis-in-juvenile-idiopathic-arthritis
#11
I Foeldvari, K Walscheid, A Heiligenhaus
BACKGROUND: Uveitis is the most common extra-articular manifestation of juvenile idiopathic arthritis (JIA). It occurs, according to German registry data, in around 12% of JIA patients and can lead to a loss of vision, especially in cases of delayed diagnosis and/or inadequate therapy. OBJECTIVE: A review of current aspects of diagnosis and therapy was carried out. MATERIAL AND METHODS: This is a review article of the current literature. RESULTS: The risk of uveitis is significantly elevated in patients with an oligoarticular course of JIA, ANA positivity and young age at onset of JIA...
August 15, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28811992/analysis-of-the-literature-on-cervical-spine-fractures-in-ankylosing-spinal-disorders
#12
REVIEW
Sebastian Hartmann, Anja Tschugg, Christoph Wipplinger, Claudius Thomé
STUDY DESIGN: Narrative literature review. OBJECTIVE: The numbers of low-energy cervical fractures seen in patients suffering from ankylosing spondylitis (also known as Bechterew disease) or diffuse idiopathic skeletal hyperostosis (also known as Forestier disease) have greatly increased over recent decades. These fractures tend to be particularly overlooked, leading to delayed diagnosis and secondary neurological deterioration. The aim of the present evaluation was to summarize current knowledge on cervical fractures in patients with ankylosing spinal disorders (ASDs)...
August 2017: Global Spine Journal
https://www.readbyqxmd.com/read/28811930/improved-ct-detection-of-acute-bowel-ischemia-using-frequency-selective-non-linear-image-blending
#13
Sven Schneeweiss, Michael Esser, Wolfgang Thaiss, Hans Boesmueller, Hendrik Ditt, Konstantin Nikolau, Marius Horger
BACKGROUND: Computed tomography (CT) as a fast and reliable diagnostic technique is the imaging modality of choice for acute bowel ischemia. However, diagnostic is often difficult mainly due to low attenuation differences between ischemic and perfused segments. PURPOSE: To compare the diagnostic efficacy of a new post-processing tool based on frequency selective non-linear blending with that of conventional linear contrast-enhanced CT (CECT) image blending for the detection of bowel ischemia...
July 2017: Acta Radiologica Open
https://www.readbyqxmd.com/read/28811911/evaluation-of-the-13-item-hypomania-checklist-and-a-brief-3-item-manic-features-questionnaire-in-primary-care
#14
Sukhmeet Singh, Paul Scouller, Daniel J Smith
Aims and method The mean delay for bipolar disorder diagnosis is 10 years. Identification of patients with previous hypomania is challenging, sometimes resulting in misdiagnosis. The aims of this study were: (a) to estimate the proportion of primary care patients with depression currently taking antidepressants who have undiagnosed bipolar disorder and (b) to compare a brief 3-item manic features questionnaire with the Hypomania Checklist (HCL-13). The sample comprised patients with a recorded diagnosis of depression, either on long-term antidepressant therapy or with previous multiple courses of antidepressants...
August 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/28811906/induced-vomiting-for-attention-seeking-and-secondary-gain-an-unusual-cause-of-pseudo-resistant-hypertension
#15
Katerina Zakka, Mohamad Bitar, Bassel Lakkis, Sahar H Koubar
In patients with complex psychosocial history presenting with resistant hypertension, observed therapy should be implemented early on to avoid unnecessary investigations and delayed diagnosis.
August 2017: JRSM Open
https://www.readbyqxmd.com/read/28811770/clinical-and-laboratory-profile-of-children-with-cystic-fibrosis-experience-of-a-tertiary-care-center-in-pakistan
#16
Danish Abdul Aziz, Abdul Gaffar Billoo, Ahad Qureshi, Misha Khalid, Salman Kirmani
OBJECTIVE: To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan. METHODS: This is athree years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811156/screening-of-congenital-hypothyroidism-in-preterm-low-birth-weight-and-very-low-birth-weight-neonates-a-systematic-review
#17
REVIEW
Mahin Hashemipour, Silva Hovsepian, Arman Ansari, Mojtaba Keikha, Pooyan Khalighinejad, Negar Niknam
Evidence from different screening programs indicated that the rate of congenital hypothyroidism (CH) was higher in pre-term and low-birth-weight (LBW) newborns than normal ones. Incomplete development of hypothalamic-pituitary axis in this group of neonates results in the delayed rise of TSH and missing cases with CH. Hence, there is a great need for a practicable systematic screening method for proper diagnosis of CH in this group of neonates. In this review, we systematically reviewed papers with the following key words ([Congenital Hypothyroidism AND Screening AND Thyroxine AND Thyroid Stimulating Hormone AND Low Birth Weight AND Premature]) in international electronic databases including PubMed, Scopus, and Google Scholar...
July 22, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28810998/delayed-diagnosis-of-acromegaly-in-the-context-of-post-traumatic-stress-disorder-due-to-symptoms-mimicking-known-psychotropic-medication-side-effects
#18
Ray-Bernard Portier, Afshin Afarin, Sara Pope
BACKGROUND: Acromegaly is caused by elevated secretion of human growth hormone, which is frequently because of intracranial tumors. This diagnosis is fairly uncommon with an incidence of 3 to 4 cases per million patients per year. We are presenting a case of acromegaly diagnosed in an active duty Chief Petty Officer. MATERIALS AND METHODS: A 38-year-old male Chief Petty Officer with no previous mental health diagnosis experienced post-traumatic stress disorder (PTSD)-like symptoms in early 2012 after deploying to Iraq and Afghanistan from 2010 to 2011...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28810911/outcomes-from-patients-with-presumed-drug-resistant-tuberculosis-in-five-reference-centers-in-brazil
#19
D M P Ramalho, P F C Miranda, M K Andrade, T Brígido, M P Dalcolmo, E Mesquita, C F Dias, A N Gambirasio, J Ueleres Braga, A Detjen, P P J Phillips, I Langley, P I Fujiwara, S B Squire, M M Oliveira, A L Kritski
BACKGROUND: The implementation of rapid drug susceptibility testing (DST) is a current global priority for TB control. However, data are scarce on patient-relevant outcomes for presumptive diagnosis of drug-resistant tuberculosis (pDR-TB) evaluated under field conditions in high burden countries. METHODS: Observational study of pDR-TB patients referred by primary and secondary health units. TB reference centers addressing DR-TB in five cities in Brazil. Patients age 18 years and older were eligible if pDR-TB, culture positive results for Mycobacterium tuberculosis and, if no prior DST results from another laboratory were used by a physician to start anti-TB treatment...
August 15, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28810106/a-case-of-silent-q-fever-endocarditis
#20
Kashif Shaikh, Henry Travers, Amornpol Anuwatworn, Kalyan Potu, Brandy Pownell, Maria Stys, Adam Stys, Anoop Kumar
Q fever endocarditis is a rare, culture negative endocarditis caused by Coxiella burnetii, a spore-forming gram negative coccobacillus. Presenting symptoms can be very non-specific; thus, diagnosis may be delayed. We present a case of a 65-year-old male patient with history of aortic aneurysm who complained of chronic fatigue. He was found to have aortic valve vegetation on routine echocardiography. Q fever endocarditis was diagnosed based on elevated Q fever serology; there was absence of fever. This case illustrated a rare, under-recognized and atypical manifestation of Q fever endocarditis...
December 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
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