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https://www.readbyqxmd.com/read/27915062/rosette-forming-glioneuronal-tumor-originating-from-the-spinal-cord-report-of-two-cases-and-literature-review
#1
Lian Duan, Yunkun Zhang, Weilun Fu, Sumin Geng
Rosette-forming glioneuronal tumor (RGNT) is a recently recognized and rarely encountered tumor occurring in the fourth ventricle. Histologically, it is composed by two distinct features: a glial component, resembling pilocytic astrocytoma, and a neurocytic component forming neurocytic rosettes and/or perivascular rosettes. The authors describe two extremely rare cases of RGNT arising from the spinal cord, which were misdiagnosed as ependymoma and astrocytoma preoperatively. Symptoms included dissociated sensory disturbance, episodic pain and fatigue, as well as motor disturbance, had been presented for two years and two months, respectively...
November 30, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27915031/acid-ceramidase-deficiency-is-characterized-by-a-unique-plasma-cytokine-and-ceramide-profile-that-is-altered-by-therapy
#2
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S Norris, Xingxuan He, Edward H Schuchman, Thierry Levade, Jeffrey A Medin
Acid Ceramidase Deficiency (Farber Disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease...
November 30, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27913710/lessons-learned-from-35-cases-of-laryngeal-foreign-bodies-undergoing-misdiagnosis-in-pediatric-population
#3
Qingguo Chen, Hanqi Chu, Yanling Tao, Hongyan Huang, Liyan Peng
OBJECTIVES: To present 35 cases of laryngeal foreign bodies (FBs) in pediatric population undergoing misdiagnosis so as to draw on our lessons to improve early diagnosis. METHODS: A retrospective analysis over 15 years was conducted of 35 cases of laryngeal FBs undergoing misdiagnosis in children. Meanwhile, a control group, including 42 cases of laryngeal FBs without misdiagnosis in children, was set. These patients' clinical data were collected and analyzed to identify the risk factors for misdiagnosis...
December 2, 2016: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27913262/neurosurgeons-in-japan-are-exclusively-brain-surgeons
#4
REVIEW
Shunji Asamoto
In Japan, neurosurgeons have mainly treated brain diseases, with most cases involving the spine and spinal diseases historically being treated by orthopedists. Nowadays, spinal surgery is just one of the many subspecialties in the neurosurgical field in Japan. Most patients with neurological deficits or suspected neurological diseases are taken to board-certified neurosurgeons or go to them directly in Japan, not through referrals from family doctors or specialists in other fields. Problems originating in the spine and spinal cord have been overlooked or misdiagnosed in these situations...
November 29, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27908709/surgical-intervention-for-oromandibular-dystonia-related-limited-mouth-opening-long-term-follow-up
#5
Kazuya Yoshida
BACKGROUND: Oromandibular dystonia is a movement disorder that is characterized by involuntary masticatory and/or lingual muscle contracture. Jaw closing dystonia, the most common subtype of this condition, can cause trismus and is frequently misdiagnosed as temporomandibular joint disorder or masticatory muscle tendon-aponeurosis hyperplasia. MATERIALS AND METHODS: This report describes the long-term results of 18 patients with limited mouth opening (mean maximal mouth opening: 12...
October 28, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27904756/ct-negative-mri-gre-positive-primary-motor-cortex-contusion-causing-isolated-foot-drop
#6
Alexander M Tucker, Tianyi Niu, Daniel T Nagasawa, Richard Everson, Shaina Sedighim, Manuel M Buitrago Blanco
BACKGROUND: Isolated acute foot drop due to traumatic brain injury is exceedingly rare and is often misdiagnosed during initial evaluation. Here, we present the case of a patient who presented with left foot drop after falling off a bicycle. CASE DESCRIPTION: The patient is a 55-year-old male who was mountain biking when he fell, hit his head, and lost consciousness. Neurologic examination of the left leg revealed foot drop, no sensory deficits, and 3+ reflexes at the knee and ankle with clonus...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27904755/paraplegia-caused-by-cerebral-contusions-in-the-bilateral-precentral-gyri
#7
Hideaki Matsumura, Hiroyuki Fujimori, Naoaki Sato, Akira Matsumura
BACKGROUND: Paraplegia is mainly caused by spinal cord disease and rarely occurs due to head trauma. In this report, we describe a case of paraplegia caused by cerebral contusions in the bilateral precentral gyri. CASE DESCRIPTION: A 72-year-old man was admitted to our hospital with mildly impaired consciousness and severe pure motor paralysis in both legs. He was healthy until the morning of the day, but his wife found him injured in front of his house upon returning home...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27904107/epidermoid-cyst-in-an-intrapancreatic-accessory-spleen-case-report-and-literature-review-of-the-preoperative-imaging-findings
#8
Shin Kato, Hideki Mori, Moriya Zakimi, Koki Yamada, Kenji Chinen, Masayuki Arashiro, Susumu Shinoura, Kaoru Kikuchi, Takahiro Murakami, Fumihito Kunishima
An epidermoid cyst arising within an intrapancreatic accessory spleen (ECIAS) is rare, and also difficult to correctly diagnose before surgery. It is mostly misdiagnosed as a cystic tumor, such as a mucinous cystic neoplasm or as a solid tumor with cystic degeneration, such as a neuro endocrine tumor. We herein report a case of ECIAS and also perform a literature review of 35 reports of ECIAS. Although the preoperative diagnosis of ECIAS using conventional imaging is relatively difficult to make, careful preoperative examinations of the features on computed tomography and magnetic resonance imaging could lead to a correct preoperative diagnosis of ECIAS which might thereby reduce the number of unnecessary resections...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27902591/a-novel-indication-for-a-method-in-the-treatment-of-lumbar-tuberculosis-through-minimally-invasive-extreme-lateral-interbody-fusion-xlif-in-combination-with-percutaneous-pedicle-screws-fixation-in-an-elderly-patient-a-case-report
#9
Qiyou Wang, Yichun Xu, Ruiqiang Chen, Jianwen Dong, Bin Liu, Limin Rong
RATIONALE: To describe a novel indication for a method through minimally invasive extreme lateral interbody fusion (XLIF) in combination with percutaneous pedicle screwsfixation in the treatment of lumbar tuberculosis (TB) in an elderly patient, and its clinical efficacy and feasibility. Lumbar TB is a destructive form of TB. Antituberculous treatment should be started as early as possible. In some circumstances, however, surgical debridement with or without stabilization of the spine appears to be beneficial and may be recommended...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27902172/is-it-easy-to-clinically-distinguish-inflammatory-arthritis-of-bacterial-origin-from-monoarthritis-attacks-of-gout-disease
#10
O Şahap Atik, Yılmaz Ergişi, Tacettin Ayanoğlu, Mehmet Ali Tokgöz, Erdem Aras Sezgin, Pınar Uyar Göçün
Acute monoarthritis is a common situation in orthopedic emergency where the patient presents with typical inflamed joint. It is hard to clinically distinguish inflammatory arthritis of bacterial origin from monoarthritis attacks of gout disease. If these two situations, which are the most common causes of acute monoarthritis, are misdiagnosed, outcomes might be catastrophic and costly. Synovial fluid analysis is the most reliable method for confirming the diagnosis although it might not always lead to definitive diagnosis...
December 2016: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/27901250/perception-of-stroke-symptoms-and-utilization-of-emergency-medical-services
#11
Maximiliano A Hawkes, Mauricio F Farez, Ismael L Calandri, Sebastián F Ameriso
Methods: Review of hospital records and structured telephone interviews of 100 consecutive stroke patients. Forward stepwise logistic regression was used for the statistical analysis. Results: Seventy patients (75%) arrived at the hospital 4.5 hours after stroke symptoms onset. The use of EMS did not improve arrival times. Most patients who recognized their symptoms did not use EMS (p < 0.02). Nineteen patients (20%) were initially misdiagnosed. Eighteen of them were first assessed by non-neurologist physicians (p < 0...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27900106/giant-intrapelvic-malignant-peripheral-nerve-sheath-tumor-mimicking-disc-herniation-a-case-report
#12
Peng Wang, Cong Chen, Xiaotang Xin, Bo Liu, Wei Li, Dezhen Yin, Weidong Mu
Giant intrapelvic malignant peripheral nerve sheath tumors arising in the sciatic nerve in the pelvic cavity are a rare occurrence and their symptomatology is usually misdiagnosed as intervertebral disc herniation. We herein report the case of a 46-year old woman presenting with pain, hypesthesia and weakness of the left lower extremity due to a giant intrapelvic malignant peripheral nerve sheath tumor of the sciatic nerve. Prior to being referred to our institution, the patient was misdiagnosed as a case of sciatica due to a lumbar disc herniation and underwent an operation unsuccessfully, as there was little symptomatic improvement 2 months after the surgery...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27900091/fibular-juxta-articular-ganglion-a-rare-case-report-and-literature-review
#13
Xiaobo Yan, Zhengliang Zhang, Nong Lin, Tao Xie, Zhaoming Ye
This is the case report of a 65-year-old man who experienced left calf pain after spraining his left ankle. On magnetic resonance imaging (MRI), a well-defined fluid collection was identified, with low intensity on T1-weighted images and very high intensity on T2-weighted images. On certain slices, a soft tissue mass in the proximal fibula was identified. Following resection of the fibular lesion, histological examination confirmed a benign tumor with cystic elements, described in the current pathology and radiology literature as juxta-articular myxoma...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#14
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27899309/repeated-misdiagnosis-of-a-relapsed-atypical-anti-nmda-receptor-encephalitis-without-an-associated-ovarian-teratoma
#15
Weihe Zhang, Li Yan, Jinsong Jiao
We present an atypical case of relapsed anti-NMDAR encephalitis in a young female patient without an associated ovarian teratoma. She presented with recurrent seizure attacks with muscle weakness, psychosis, dyskinesia, autonomic failure and insomnia. She was first misdiagnosed as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) then Hashimoto's encephalopathy due to diffuse cerebral lesions, elevated serum lactic acid concentration, increased amount of thyroid peroxidase and thyroglobulin antibodies in serum and diffuse lesions of the thyroid gland...
November 26, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27895946/a-case-of-false-positive-mycobacterium-tuberculosis-caused-by-mycobacterium-celatum
#16
Edward Gildeh, Zaid Abdel-Rahman, Ruchira Sengupta, Laura Johnson
Mycobacterium celatum is a nontuberculous mycobacterium shown to cause symptoms similar to pulmonary M. tuberculosis. Certain strains have been shown to cross-react with the probes used to detect M. tuberculosis, making this a diagnostic challenge. We present a 56-year-old gentleman who developed signs and symptoms of lung infection with computed tomography scan of the chest showing right lung apex cavitation. Serial sputum samples were positive for acid-fast bacilli and nucleic acid amplification testing identified M...
2016: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/27895799/routine-blood-examinations-combined-with-morphological-analysis-for-the-diagnosis-of-myelodysplastic-myeloproliferative-neoplasms
#17
Huanling Wu, Hui Sun, Zhifen Zhang, Xiangli Li, Yuantang Li, Li Li, Rui Xu, Zie Wang, Wenjun Tian
In 2008, the World Health Organization (WHO) introduced a new hematological neoplasm category; myelodysplastic/myeloproliferative neoplasms (MDS/MPN), which included four main subcategories. This disease is often misdiagnosed, which delays effective therapy. The present study evaluated the role of routine blood examinations and morphological analysis of peripheral blood cells in the reliable diagnosis of MDS/MPN. In total, 236 adult MDS/MPN patients were analyzed. The analysis included 10 routine blood parameters measured using a Sysmex XE-2100™, 3 differential percentage parameters and 7 morphological features of peripheral blood cells which were analyzed by optical microscopy, and 3 differential absolute count numbers obtained based on the corresponding differential percentages and absolute count of blood cells...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27895411/reoperation-in-an-adult-female-with-right-sided-hirschsprung-s-disease-complicated-by-refractory-hypertension-and-cough
#18
Zhi-Jian Wei, Lei Huang, A-Man Xu
Hirschsprung's disease (HD) is an intestinal malformation caused by the innate absence of ganglion cells in the neural plexus of the colorectal wall, and is most common in male infants. It is rare in adult, and is usually left-sided. Herein we reported based on the CARE guidelines a case of a 47-year-old adult female suffering from "right-sided" HD complicated by refractory hypertension and cough. The patient with a history of cesarean section and with digestive unfitness (abdominal pain, distention, and constipation) only since 20 years old had recurrence of HD after initial surgery due to the incomplete removal of the HD-affected bowel based on a diagnosis of "chronic ileus", leading to the relapse of the digestive symptoms and the emergence of some intractable circulatory and respiratory complications which could be hardly controlled by conservative treatment...
November 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27894443/the-team-based-approach-to-undiagnosed-and-rare-diseases
#19
REVIEW
Robert M Kliegman, Barbara E Ruggeri, Molly Marquardt Smith
Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen. Most practitioners are unlikely to be familiar with uncommon manifestations of a common disorder and have little or no experience with rare diseases. Multidisciplinary teams are effective in reviewing patients with undiagnosed and rare diseases and in developing a new diagnostic strategy for appropriate evaluation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#20
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
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