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delayed diagnosis

Gesine Meyer, Klaus Badenhoop
An adrenal crisis (Addisonian crisis) is an acute life-threatening complication of adrenal insufficiency. It occurs when hydrocortisone demand is not met by supplementation in the context of an infection - often gastrointestinal, fever, trauma, acute psychological or physical stress. Symptoms of weakness, nausea, muscle/joint pain and drowsiness may develop out of robust health within few hours. If overlooked, treated too late, with insufficient dose or route of application, there exists a considerable risk of mortality...
March 2018: Deutsche Medizinische Wochenschrift
Bruce Cv Campbell, Mark W Parsons
This review summarizes the current state of knowledge regarding the use of imaging to guide stroke treatment. Brain imaging plays a central role in the diagnosis of stroke and identification of the mechanism of stroke, which is relevant to acute treatment, prognosis, and secondary prevention. The chief potential modalities are computed tomography (CT) and magnetic resonance imaging (MRI). Currently, most imaging occurs in hospital but mobile stroke units have expanded CT brain imaging into the prehospital field...
January 1, 2018: International Journal of Stroke: Official Journal of the International Stroke Society
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
Sungbea Ban, Eunjung Min, Songyee Baek, Hyug Moo Kwon, Gabriel Popescu, Woonggyu Jung
The diagnosis of acute kidney disease (AKI) has been examined mainly by histology, immunohistochemistry and western blot. Though these approaches are widely accepted in the field, it has an inherent limitation due to the lack of high-throughput and quantitative information. For a better understanding of prognosis in AKI, we present a new approach using quantitative phase imaging combined with a wide-field scanning platform. Through the phase-delay information from the tissue, we were able to predict a stage of AKI based on various optical properties such as light scattering coefficient and anisotropy...
March 1, 2018: Biomedical Optics Express
Melanie Penner, Evdokia Anagnostou, Wendy J Ungar
Background: Inefficient diagnostic practices for autism spectrum disorder (ASD) may contribute to longer wait times, delaying access to intervention. The objectives were to describe the diagnostic practices of Canadian pediatricians and to identify determinants of longer wait time for ASD diagnosis. Methods: An online survey was conducted through the Canadian Paediatric Society's developmental pediatrics, community pediatrics, and mental health sections. Participants were asked for demographic information, whether they diagnosed ASD, and elements of their diagnostic assessment...
2018: Molecular Autism
Natalie Herold, Barbara Wappenschmidt, Birgid Markiefka, Katharina Keupp, Sandra Kröber, Eric Hahnen, Rita Schmutzler, Kerstin Rhiem
Non-small cell neuroendocrine carcinomas (NSCNEC) account for 2% of gynecological cancer cases and are associated with a poor prognosis due to delayed diagnosis and aggressive tumor behavior. BRCA2 -associated ovarian carcinomas predominantly possess a high-grade serous phenotype, which respond to platinum and targeted therapy with PARP inhibitors. Presented here is the case of an adult patient with NSCNEC of the ovaries associated with a deleterious BRCA2 germline mutation. The pathogenic mutation was also confirmed on the somatic level, while the wild-type allele had a high variant fraction, suggesting loss of heterozygosity...
April 2018: Oncology Letters
Ronan O'Malley, Ganesh Rao, Penelope Stein, Oliver Bandmann
The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder...
March 14, 2018: Practical Neurology
J C Stagnaro, A H Cia, H Vommaro, S Sustas, N Vázquez, E Serfaty, R C Kessler, C Benjet
AIMS: While there are effective treatments for psychiatric disorders, many individuals with such disorders do not receive treatment and those that do often take years to get into treatment. Information regarding treatment contact failure and delay in Argentina is needed to guide public health policy and planning. Therefore, this study aimed to provide data on prompt treatment contact, lifetime treatment contact, median duration of treatment delays and socio-demographic predictors of treatment contact after the first onset of a mental disorder...
March 15, 2018: Epidemiology and Psychiatric Sciences
Teishiki Shibata, Motoki Tanikawa, Tomohiro Sakata, Mitsuhito Mase
Craniopharyngiomas are benign tumors and account for approximately 5.6-13% of all intracranial tumors in children. Diagnosis of pediatric craniopharyngioma is often delayed until the tumor becomes relatively large and manifests severe visual and/or endocrine disturbance. Endoscopic endonasal approaches have recently been introduced to surgery for craniopharyngioma. These techniques, however, have rarely been utilized in patients affected with craniopharyngioma as young as 1 year old. This report documents a 12-month-old male infant with sellar craniopharyngioma who presented with acute total vision loss...
March 14, 2018: Pediatric Neurosurgery
Nicole Montero Lopez, Nader Paksima
Perilunate injuries most commonly occur in high energy trauma situations; however, they are rare and frequently missed. Familiarity with the complex bony and ligamentous anatomy is required to fully understand these complex injury patterns. Careful orthogonal imaging and evaluation is required to ensure timely diagnosis of a perilunate injury. Early recognition and management of acute perilunate injuries has been demonstrated to correlate with better patient outcomes. Delayed treatment of chronic injuries can result in post-traumatic osteoarthritis and carpal collapse requiring salvage interventions...
March 2018: Bulletin of the Hospital for Joint Diseases
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
L Alejo, E Corredoira, F Sánchez-Muñoz, C Huerga, Z Aza, R Plaza-Núñez, A Serrada, M Bret-Zurita, M Parrón, C Prieto-Areyano, G Garzón-Moll, R Madero, E Guibelalde
Objective: The new 2013/59 EURATOM Directive (ED) demands dosimetric optimisation procedures without undue delay. The aim of this study was to optimise paediatric conventional radiology exams applying the ED without compromising the clinical diagnosis. METHODS: Automatic dose management software (ADMS) was used to analyse 2678 studies of children from birth to 5 years of age, obtaining local diagnostic reference levels (DRLs) in terms of entrance surface air kerma. Given local DRL for infants and chest exams exceeded the European Commission (EC) DRL, an optimisation was performed decreasing the kVp and applying the automatic control exposure...
March 14, 2018: British Journal of Radiology
Richard Rammo, Karam Asmaro, Lonni Schultz, Lisa Scarpace, Salim Siddiqui, Tobias Walbert, Steven Kalkanis, Ian Lee
Cerebral radiation necrosis (CRN) is a known complication of radiation therapy. Treatment options are limited and include steroids, bevacizumab, and surgery. This study seeks to determine the safety of laser interstitial thermal therapy (LITT) for CRN and identify the pattern of post-ablation volume change over time. Patients undergoing LITT for tumor treatment at Henry Ford Hospital between November 2013 and January 2016 with biopsy-confirmed CRN were prospectively collected and retrospectively reviewed with attention to ablation volume, survival, demographic data, steroid dose, and complications...
March 13, 2018: Journal of Neuro-oncology
Claire E Kendall, Esther S Shoemaker, Janet Raboud, Amy E Mark, Ahmed M Bayoumi, Ann N Burchell, Mona Loutfy, Sean B Rourke, Clare E Liddy, Ron Rosenes, Timothy Rogers, Tony Antoniou
Timely presentation to care for people newly diagnosed with HIV is critical to optimize health outcomes and reduce onward HIV transmission. Studies describing presentation to care following diagnosis during a hospital admission are lacking. We sought to assess the timeliness of presentation to care and to identify factors associated with delayed presentation. We conducted a population-level study using health administrative databases. Participants were all individuals older than 16 and newly diagnosed with HIV during hospital admission in Ontario, Canada, between April 1, 2007 and March 31, 2015...
March 13, 2018: AIDS and Behavior
L M Crowther, M Poms, Barbara Plecko
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurological disease. This would result in a higher diagnostic yield and increased patient numbers required for interventional studies. Recent studies using next-generation sequencing and metabolomics have led to identification of novel disease-causing genes and biomarkers...
March 13, 2018: Journal of Inherited Metabolic Disease
Patrick Sven Plum, Arnulf Heinrich Hölscher, Kristin Pacheco Godoy, Henner Schmidt, Felix Berlth, Seung-Hun Chon, Hakan Alakus, Elfriede Bollschweiler
BACKGROUND: The aim of this retrospective study was to compare the prognosis of patients with esophageal cancer after non-curative endoscopic resection (ER) followed by esophagectomy (ER + S) with that of patients after primary surgery (PS). METHODS: Between 2000 and 2015, 287 patients had esophagectomy for T1 esophageal cancer. 81 of these patients underwent at least one ER in curative intention before surgery (7 squamous cell carcinomas, 74 adenocarcinomas)...
March 13, 2018: Surgical Endoscopy
Federica Camela, Marcella Gallucci, Emanuela di Palmo, Salvatore Cazzato, Mario Lima, Giampaolo Ricci, Andrea Pession
The inflammatory myofibroblastic tumor (IMT) is a rare lesion of unclear etiology and variable clinical course, consisting of a proliferation of fibroblasts and myofibroblasts, mixed with inflammatory cells. Synonyms of IMT are inflammatory pseudotumor and plasma cell granuloma reflecting the alleged inflammatory nature attributed to this lesion, even though this heterogeneity in the disease denomination is probably involved in a dispersion of the literature data. Among primary pulmonary neoplasms, it represents the most frequent endobronchial tumor of childhood and beyond the lung it has been described mainly in the bladder, mediastinum and mesentery...
2018: Frontiers in Pediatrics
Rimal H Dossani, Devi P Patra, Hai Sun, Anil Nanda, Hugo Cuellar
Spinal arachnoiditis (SA) is a rare and delayed complication of aneurysmal subarachnoid hemorrhage (aSAH). We present a case of delayed SA associated with thoracic and lumbar arachnoid cysts in a patient with aSAH secondary to a ruptured vertebral artery aneurysm. The patient underwent a thoracic laminectomy for decompression of the spinal cord, lysis of arachnoid adhesions, and fenestration of an arachnoid cyst. We present the pathogenesis, diagnosis, treatment, and management of spinal arachnoiditis as a rare complication of aSAH...
January 6, 2018: Curēus
Tianyi Xia, Sang Zhu, Yan Wen, Shouhong Gao, Mingming Li, Xia Tao, Feng Zhang, Wansheng Chen
Background: Nephrotoxicity of calcineurin inhibitors (CNIs) is the major concern for long-term allograft survival despite its predominant role in current immunosuppressive regime after renal transplantation. CNI nephrotoxicity is multifactorial with demographic, environmental, and pharmacogenetic flexibility, whereas studies indicating risk factors for CNI nephrotoxicity obtained incomplete or conflicting results. Methods: A systematic review and meta-analysis of risk factors for CNI nephrotoxicity was performed on all retrieved studies through a comprehensive research of network database...
2018: Drug Design, Development and Therapy
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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