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https://www.readbyqxmd.com/read/28812826/a-policy-analysis-on-the-proactive-prevention-of-chronic-disease-learnings-from-the-initial-implementation-of-integrated-measurement-for-early-detection-mido
#1
Roberto Tapia-Conyer, Rodrigo Saucedo-Martínez, Ricardo Mújica-Rosales, Héctor Gallardo-Rincón, Evan Lee, Craig Waugh, Lucía Guajardo, Braulio Torres-Beltrán, Úrsula Quijano-González, Mauricio López-Mendez, Elena Rose Atkinson
Mexico, like many low- and middle-income countries (LMICs), faces an epidemic of chronic non-communicable diseases (NCDs), specifically diabetes, hypertension, obesity, and lipid disorders. Many people with these NCDs may not be aware that they have a disease, pointing to the need for broader screening programs. The traditional prevention policy in Mexico was based on screening with a paper-based risk factor questionnaire. However, this was used to screen patients already seeking healthcare services at facilities, and screening goals were set as a function of the number of questionnaires applied, not number of individuals screened...
February 20, 2017: International Journal of Health Policy and Management
https://www.readbyqxmd.com/read/28812252/secondary-fracture-prevention-in-hip-fracture-patients-requires-cooperation-from-general-practitioners
#2
Jan Vaculík, Jan J Stepan, Pavel Dungl, Marek Majerníček, Alexander Čelko, Valér Džupa
Despite individual recommendations on osteoporosis management in patients after hip fracture surgery, addressed by orthopedic surgeons to Czech general practitioners, the patients remained undiagnosed and untreated because of provider-level barriers to post-fracture secondary prevention. PURPOSE: The goal of the study was to assess whether an individual recommendation on osteoporosis treatment addressed to a hip fracture patient's GP would lead to better osteoporosis management. METHODS: Two groups of patients who suffered hip fractures and were treated at the Orthopedic Department were evaluated...
May 18, 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28811911/evaluation-of-the-13-item-hypomania-checklist-and-a-brief-3-item-manic-features-questionnaire-in-primary-care
#3
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/28810998/delayed-diagnosis-of-acromegaly-in-the-context-of-post-traumatic-stress-disorder-due-to-symptoms-mimicking-known-psychotropic-medication-side-effects
#4
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/28808789/palliative-care-for-children-with-a-yet-undiagnosed-syndrome
#5
Jessica I Hoell, Jens Warfsmann, Gabriele Gagnon, Laura Trocan, Stefan Balzer, Prasad T Oommen, Arndt Borkhardt, Gisela Janßen, Michaela Kuhlen
The number of children without a diagnosis in pediatric palliative home care and the process of decision-making in these children are widely unknown. The study was conducted as single-center retrospective cohort study. Between January 2013 and September 2016, 198 children and young adults were cared for; 27 (13.6%) of these were without a clear diagnosis at the start of pediatric palliative home care. A definite diagnosis was ultimately achieved in three children. Median age was 7 years (0-25), duration of care 569 days (2-2638), and number of home visits 7...
August 14, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28807864/reducing-diagnostic-turnaround-times-of-exome-sequencing-for-families-requiring-timely-diagnoses
#6
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar, Elise Schaefer, Aurélia Jaquette, Judith St-Onge, Charlotte Poe, Thibaud Jouan, Martin Chevarin, Patrick Callier, Anne-Laure Mosca-Boidron, Nicole Laurent, Mathilde Lefebvre, Frédéric Huet, Nada Houcinat, Sébastien Moutton, Christophe Philippe, Frédéric Tran-Mau-Them, Antonio Vitobello, Paul Kuentz, Yannis Duffourd, Jean-Baptiste Rivière, Julien Thevenon, Laurence Faivre
BACKGROUND AND OBJECTIVE: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#7
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28806035/a-primer-on-diagnostic-and-financial-implications-of-d-dimer-testing
#8
Kalyan Chakravarthy Potu, Sujithasree Ketineni, Randall Lamfers
Given the high incidence of deep vein thrombosis/pulmonary embolism (DVT/PE) (300,000 to 600,000 per year in the U.S.) and the 30 percent mortality rate associated with undiagnosed PE, diagnostic evaluation is very important. One of the tools used to evaluate for DVT and PE is D-dimer testing. A negative D-dimer test, along with a low Wells clinical probability score, can safely rule out DVT/PE without the need for additional imaging. This approach can reduce cost; however, D-dimer testing is not indicated in all patients...
September 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28804516/the-role-of-sebelipase-alfa-in-the-treatment-of-lysosomal-acid-lipase-deficiency
#9
REVIEW
Angelika L Erwin
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28803784/race-ethnic-disparities-in-cardiometabolic-risk-profiles-among-stroke-survivors-with-undiagnosed-diabetes-and-prediabetes-in-the-united-states
#10
Okkyung Kim, Bruce Ovbiagele, Natalie Valle, Daniela Markovic, Amytis Towfighi
BACKGROUND AND PURPOSE: Up to 25% of the U.S. population has undiagnosed diabetes. Diabetes and stroke both disproportionately afflict race/ethnic minorities. We assessed race/ethnic differences in the prevalence of undiagnosed diabetes, prediabetes, and cardiometabolic risk profiles among stroke survivors in the United States. METHODS: The prevalence of diabetes and prediabetes among adults (≥20 years) with a self-reported history of stroke was assessed using the National Health and Nutrition Examination Surveys (NHANES) from 1999 to 2010...
August 10, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#11
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801192/evaluating-findrisc-as-a-screening-tool-for-type-2-diabetes-among-overweight-adults-in-the-preview-nz-cohort
#12
Marta Paulino Silvestre, Yannan Jiang, Katya Volkova, Hannah Chisholm, Wonjoo Lee, Sally Diana Poppitt
AIMS: This study aimed to evaluate the efficacy of a high (≥12) Finnish diabetes risk (FINDRISC) score in identifying undiagnosed prediabetes and type 2 diabetes (T2D) in an New Zealand population of overweight and obese individuals, across a variety of ethnic groups. METHODS: We estimated the efficacy of elevated FINDRISC scores in predicting prediabetes and T2D in 424 overweight adults with no prior diagnosis recruited for the PREVention of diabetes through lifestyle Interventions in Europe and Worldwide (PREVIEW) study...
August 8, 2017: Primary Care Diabetes
https://www.readbyqxmd.com/read/28800801/behavioral-emergencies-special-considerations-in-the-geriatric-psychiatric-patient
#13
REVIEW
Awais Aftab, Asim A Shah
This article reviews psychiatric considerations and common psychiatric emergencies in the elderly. The elderly are vulnerable to medication side-effects because of pharmacokinetic changes from aging, and require lower doses and slower titration. They are a high-risk group for suicide, with more serious intent, fewer warning signs, and more lethality. Prompt diagnosis and treatment of delirium in emergency settings is essential, given association with worse outcomes when undiagnosed. Pharmacologic options with demonstrable efficacy for agitation in dementia are limited to antipsychotics, which are, however, associated with an increased risk of mortality; behavioral interventions are universally recommended as first-line measures...
September 2017: Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/28799509/update-on-pharmacological-treatment-of-progressive-myoclonus-epilepsies
#14
Edoardo Ferlazzo, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, Felix Felix Nitschke, Saija Ahonen, Sara Gasparini, Berge A Minassian
BACKGROUND: Progressive myoclonus epilepsies (PMEs) are a group of rare inherited diseases featuring a combination of myoclonus, seizures and variable degree of cognitive impairment. Despite extensive investigations, a large number of PMEs remain undiagnosed. In this review, we focus on the current pharmacological approach to PMEs. METHODS: References were mainly identified through PubMed search until February 2017 and backtracking of references in pertinent studies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28799301/rickettsial-infections-in-goa-not-just-scrub-typhus
#15
Kedareshwar Narvencar, Gurleen Kaur, Savio Rodrigues
BACKGROUND AND OBJECTIVE: Rickettsial infections are an important cause of undifferentiated febrile illness in tropics. While scrub typhus was reported from Goa, other rickettsial infections have not been reported earlier. The present study was planned to identify pattern of rickettsial infections in Goa. MATERIALS AND METHODS: All patients presenting with undiagnosed acute febrile illness were recruited over a two-year period. Other causes of febrile illness were ruled out by appropriate tests...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28798877/previously-undiagnosed-spinal-and-bulbar-muscular-atrophy-as-a-cause-of-airway-obstruction-after-robot-assisted-laparoscopic-prostatectomy
#16
Miyuki Niki, Taihei Tachikawa, Yuka Sano, Hiroki Miyawaki, Aisa Matoi, Yukari Okano, Nobutaka Kariya, Tsuneo Tatara, Munetaka Hirose
BACKGROUND: Preoperative vocal cord paralysis is a risk factor for postoperative respiratory distress following extubation after general anesthesia. We present an unusual case where a geriatric patient developed airway obstruction after robot-assisted laparoscopic prostatectomy. CASE PRESENTATION: A 67-year-old male, who had suffered from left vocal cord paralysis of unknown etiology, was scheduled for robot-assisted laparoscopic prostatectomy (RALP). General anesthesia was performed without any problems...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28797715/universal-point-of-care-testing-for-lynch-syndrome-in-patients-with-upper-tract-urothelial-carcinoma
#17
Michael J Metcalfe, Firas G Petros, Priya Rao, Maureen E Mork, Lianchun Xiao, Russell R Broaddus, Surena F Matin
BACKGROUND: Patients with Lynch syndrome (LS) are at risk for upper tract urothelial carcinoma (UTUC). We aim to identify the most reliable means of point-of-care (POC) screening for LS in UTUC patients. METHODS: From January 2013 through July 2016, 115 consecutive UTUC patients without a history of LS were universally screened during their follow-up. We evaluated patient/family history (Amsterdam criteria I [AMS1] and II [AMS2]), tumor immunohistochemistry (IHC) for mismatch repair proteins (MMRP), and microsatellite instability (MSI)...
August 7, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28797497/reaching-hepatitis-c-virus-elimination-targets-requires-health-system-interventions-to-enhance-the-care-cascade
#18
Nick Scott, Joseph S Doyle, David P Wilson, Amanda Wade, Jess Howell, Alisa Pedrana, Alexander Thompson, Margaret E Hellard
BACKGROUND: Modelling suggests that achieving the World Health Organization's elimination targets for hepatitis C virus (HCV) is possible by scaling up use of direct-acting antiviral (DAA) therapy. However, poor linkage to health services and retention in care presents a major barrier, in particular among people who inject drugs (PWID). We identify and assess the cost-effectiveness of additional health system interventions required to achieve HCV elimination targets in Australia, a setting where all people living with HCV have access to DAA therapy...
August 7, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28796984/allergens-and-food-additives-including-potentially-harmful-ones-present-in-food-products-that-are-preferred-by-children-and-adolescents
#19
Sandra Budrewicz, Marcin Banaszczak, Jakub Piotrowski, Maja Czerwińska, Ewa Stachowska
INTRODUCTION: The proper development of a child is linked with proper nutrition, including nutritional habits which are formed from childhood. THE AIM OF THE STUDY: The aim of the study was to establish a list of the most popular food products among children and to develop a register of potentially dangerous substances on a Facebook website. MATERIALS AND METHODS: A website was created on Facebook. The participants provided lists of favorite dishes or products...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28796764/announcement-fungal-disease-awareness-week-august-14-18-2017
#20
(no author information available yet)
In 2017, CDC initiated a national observance, Fungal Disease Awareness Week, to increase awareness about fungal diseases, which can cause severe illness but frequently go undiagnosed. Awareness is one of the most important means to reduce delays in diagnosis and treatment, which can lead to better health outcomes and save lives.
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
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