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https://www.readbyqxmd.com/read/28329600/delay-in-diagnosis-of-acral-melanoma
#1
Roberto Rheingantz da Cunha Filho, Leandra Matte, Ricardo Hohmann Camina
We report a 41-year-old woman presented with a 4-year history of an exuberant, erythematous tumor, with necrotic appearance of the right distal toe. The histopathology examination showed a nodular-ulcerative melanoma, with bone infiltration. Widespread metastases including the right ovary, peritoneum, and right breast were present. The patient was misdiagnosed for almost 4 years as having onychomycosis, ingrown nail and pyogenic granuloma.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329565/dermatological-clues-to-the-diagnosis-of-atypical-complete-digeorge-syndrome
#2
Lucia Seminario-Vidal, Lauren Kole, Charles Knapp, Prem Fort, Suthida Kankirawatana, T Prescott Atkinson, Kristopher M McKay, Amy Theos
Atypical complete DiGeorge syndrome (DGS) is an extremely rare congenital disease characterized by an eczematous dermatitis, lymphadenopathy, and an oligoclonal T-cell proliferation. Because its initial presentation may be confused with other types of eczematous dermatitis, diagnosis and treatment are usually delayed. We describe herein a case of an infant with atypical complete DGS to draw attention to the clinical and histopathological findings that lead us to the diagnosis.
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329428/the-diagnosis-and-lived-experience-of-polycystic-ovary-syndrome-a-qualitative-study
#3
Julie Tomlinson, Jonathan Pinkney, Linda Adams, Elizabeth Stenhouse, Alison Bendall, Oonagh Corrigan, Gayle Letherby
AIMS: To explore the impact of the diagnosis of polycystic ovary syndrome on health/ill health identity, how women experience this diagnosis and their health beliefs. BACKGROUND: polycystic ovary syndrome is a common and heterogeneous condition, giving rise to a wide range of different health concerns. Previous research on polycystic ovary syndrome has been dominated by the medical perspective and less is known about the experiences and needs of women. DESIGN: A qualitative study of 32 premenopausal adult women with polycystic ovary syndrome (diagnosis confirmed by Rotterdam criteria), aged between 18-45 years, recruited from a primary and secondary care setting...
March 22, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28329307/eacvi-appropriateness-criteria-for-the-use-of-transthoracic-echocardiography-in-adults-a-report-of-literature-and-current-practice-review
#4
Richard P Steeds, Madalina Garbi, Nuno Cardim, Jaroslaw D Kasprzak, Elif Sade, Petros Nihoyannopoulos, Bogdan Alexandru Popescu, Alexandros Stefanidis, Bernard Cosyns, Mark Monaghan, Svend Aakhus, Thor Edvardsen, Frank Flachskampf, Leonarda Galiuto, George Athanassopoulos, Patrizio Lancellotti
The European Association for Cardiovascular Imaging (EACVI) has outlined the rationale for setting appropriate use criteria (AUC) in cardiovascular (CV) imaging. Transthoracic echocardiography (TTE) is the most common imaging modality in CV disease and is a central tool in diagnosis, follow-up, management planning and intervention. The purpose of AUC is to inform referrers, both to avoid under-use, which may result in incomplete or incorrect diagnosis and treatment, and also over-use, which may delay correct diagnosis, lead to 'treatment cascade', and wastes resources...
February 25, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28328837/atypical-presentation-of-paroxysmal-nocturnal-hemoglobinuria-treated-by-eculizumab-a-case-report
#5
Anne Quinquenel, Quentin Maestraggi, Carinne Lecoq-Lafon, Peffault de Latour Régis, Alain Delmer, Amélie Servettaz
RATIONALE: Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant acquired hematopoietic stem cell disease, which can be revealed by hemolytic anemia, thromboembolism, or bonemarrow failure. Thrombosis can occur at any site, but coronary thrombosis is extremely rare. Controlled trials have demonstrated that eculizimab, an inhibitor of the terminal complement cascade, was able to reduce both hemolysis and thrombosis, but its efficacy in cases of PNH with coronary thrombosis is unknown...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328639/the-effect-of-furlow-palatoplasty-timing-on-speech-outcomes-in-submucous-cleft-palate
#6
Jordan W Swanson, Brianne T Mitchell, Marilyn Cohen, Cynthia Solot, Oksana Jackson, David Low, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Because some patients with submucous cleft palate (SMCP) are asymptomatic, surgical treatment is conventionally delayed until hypernasal resonance is identified during speech production. We aim to identify whether speech outcomes after repair of a SMCP is influenced by age of repair. METHODS: We retrospectively studied nonsyndromic children with SMCP. Speech results, before and after any surgical treatment or physical management of the palate were compared using the Pittsburgh Weighted Speech Scoring system...
March 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28328124/exome-sequencing-identifies-novel-ntrk1-mutations-in-patients-with-hsan-iv-phenotype
#7
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa, Hamad Al-Zaidan, Nadia Sakati, Zuhair Rhabeeni, Zuhair Al-Hassnan, Yousef Binamer, Nadia Alhashemi, William Wade, Zayed Al-Zayed, Moeen Al-Sayed, Mohamed A Al-Muhaizea, Brian Meyer, Mohammad Al-Owain, Salma M Wakil
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#8
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327842/-characteristics-of-patients-with-cerebral-palsy-seen-in-neuropediatric-external-consultation-in-a-peruvian-hospital
#9
Judith R Vila, Ivan O Espinoza, Daniel Guillén, Frine Samalvides
The aim of this study was to describe the neurological consultation and baseline characteristics of children with cerebral palsy (CP). The clinical records of children with CP attending an external consultation of the Neuropediatric department of Hospital Nacional Cayetano Heredia between 2011 and 2012 were assessed in this retrospective descriptive study. A total of 81 children were included: 53.1% were boys. Spastic CP was the most frequent (72.8%), hypoxic-isquemic encephalopathy (28.1%) and cerebral malformations (28...
October 2016: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/28327443/correcting-delayed-circadian-phase-with-bright-light-therapy-predicts-improvement-in-adhd-symptoms-a-pilot-study
#10
Rachel E Fargason, Aaron D Fobian, Lauren M Hablitz, Jodi R Paul, Brittny A White, Karen L Cropsey, Karen L Gamble
Attention-deficit/hyperactivity disorder (ADHD) is a common condition with comorbid insomnia reported in >70% of children and adults. These patients demonstrate delays in sleep-wake rhythms, nocturnal rise in melatonin, and early morning rise in cortisol. Given that standard psychopharmacologic treatments for ADHD often do not completely control symptoms in participants with circadian rhythm delay, we sought to test whether bright light therapy (BLT) advances circadian rhythms and further reduces ADHD symptoms over standard treatments...
March 6, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#11
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28326860/latvian-family-physicians-experience-diagnosing-depression-in-somatically-presenting-depression-patients-a-qualitative-study
#12
Maija S Leff, Jeļena Vrubļevska, Agita Lūse, Elmārs Rancāns
BACKGROUND: Depression continues to be under-diagnosed in primary care settings. One factor that influences physicians' likelihood of diagnosing depression is patients' presentation style. Patients who initially present with somatic symptoms are diagnosed at a lower rate and with greater delay than patients who present with psychosocial complaints. OBJECTIVES: To identify the barriers preventing depression diagnosis in somatically presenting patients in an Eastern European primary care setting...
December 2017: European Journal of General Practice
https://www.readbyqxmd.com/read/28326433/application-of-electronic-algorithms-to-improve-diagnostic-evaluation-for-bladder-cancer
#13
Daniel R Murphy, Ashley N D Meyer, Viralkumar Vaghani, Elise Russo, Dean F Sittig, Kyle A Richards, Li Wei, Louis Wu, Hardeep Singh
BACKGROUND: Strategies to ensure timely diagnostic evaluation of hematuria are needed to reduce delays in bladder cancer diagnosis. OBJECTIVE: To evaluate the performance of electronic trigger algorithms to detect delays in hematuria follow-up. METHODS: We developed a computerized trigger to detect delayed follow-up action on a urinalysis result with high-grade hematuria (>50 red blood cells/high powered field). The trigger scanned clinical data within a Department of Veterans Affairs (VA) national data repository to identify all patient records with hematuria, then excluded those where follow-up was unnecessary (e...
March 22, 2017: Applied Clinical Informatics
https://www.readbyqxmd.com/read/28326180/are-physicians-in-primary-health-care-able-to-recognize-pulmonary-fibrosis
#14
Minna Purokivi, Ulla Hodgson, Marjukka Myllärniemi, Eija-Riitta Salomaa, Riitta Kaarteenaho
Background: The early diagnosis of idiopathic pulmonary fibrosis (IPF) has become increasingly important due to evolving treatment options. IPF patients experience a significant delay in receiving an accurate diagnosis, thus delayed access to tertiary care is associated with higher mortality independently from disease severity. Objective: The aims were to evaluate whether there had been a delay in the referral process, and to determine whether the referring doctors had suspected IPF or other interstitial lung disease (ILD) already during the time of referral...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28325722/misdiagnosing-whipple-s-disease-in-the-young
#15
Danai Papakonstantinou, Michael J Riste, Gerald Langman, Ed Moran
Whipple's disease is considered an infection of middle-aged white men of European ancestry. Cases are rare and disproportionately associated with occupational exposure to soil or animals. We report the case of a man aged 22 years with no risk factors, erroneously diagnosed with, and treated for, toxoplasmosis on the basis of consistent lymph node histology. The correct diagnosis was delayed by the dramatic symptomatic improvement resulting from this therapy. Whipple's disease should be considered in cases of granulomatous lymphadenopathy of unknown cause, even if the age of the patient does not fit the classic presentation of the disease...
March 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28324798/conservative-management-of-an-unusual-bilioduodenal-fistula-post-laparoscopic-duodeno-ileal-switch-sadi-s-case-report
#16
E Chelala, E Adam, A Rizk, E Makhoul
INTRODUCTION: Single anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-S) is an advanced operation for morbid obesity. To our knowledge, no internal Biliodigestive Fistula has yet been reported as specific complication in the field of metabolic and bariatric Biliopancreatic diversion. CASE PRESENTATION: In this case report, we detail the case of a 57-year-old man who underwent a Single Anastomosis Duodeno-Ileal Switch (SADI-S) bariatric procedure for morbid obesity...
March 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#17
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324171/risk-factors-for-delayed-gastric-emptying-after-esophagectomy
#18
Frank Benedix, Tobias Willems, Siegfried Kropf, Daniel Schubert, Patrick Stübs, Stephanie Wolff
PURPOSE: Delayed gastric emptying (DGE) is a common functional disorder after esophagectomy with gastric tube reconstruction. Little is known about risk factors that can predict this debilitating complication. METHODS: Patients who underwent elective esophagectomy from 2008 to 2016 in a single center were retrospectively reviewed. Diagnosis of DGE was based on clinical, radiological, and endoscopic findings. Uni- and multivariate analyses were performed to identify patient-, tumor-, and procedure-related factors that increase the risk of DGE...
March 21, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/28324140/surgical-management-of-iatrogenic-perforation-of-the-gastrointestinal-tract-15%C3%A2-years-of-experience-in-a-single-center
#19
Christoph Holmer, Christoph A Mallmann, Marlis A Musch, Martin E Kreis, Jörn Gröne
BACKGROUND: Gastrointestinal (GI) tract perforation during endoscopy is a rare but severe complication. The aim of this study was to determine predictors of morbidity and mortality after iatrogenic endoscopic perforation. MATERIALS AND METHODS: All cases with iatrogenic endoscopic perforation receiving surgery at a tertiary referral center in a 15-year period (2000-2015) were retrospectively analyzed. Demographics, type of endoscopy, site of perforation, operative procedure, morbidity and mortality were analyzed...
March 21, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#20
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
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