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https://www.readbyqxmd.com/read/27933253/primary-intracerebral-osteosarcoma-a-rare-case-report-and-review
#1
Song-Ping Chen, Jin-Long Tang, Xiu-Liang Zhu
BACKGROUND: Primary intracranial osteosarcoma is a extremely rare disease entity. We describe a case of primary intracerebral osteosarcoma in an adult brain. CASE DESCRIPTION: A patient who presented with a 1-week history of headaches, and MRI examination was performed. The immunohistochemical diagnosis confirmed primary intracerebral osteosarcoma. The patient was treated with a surgical resection of the tumor. CONCLUSION: Primary osteosarcomas occurring in the brain are extremely rare...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27933138/treatment-options-for-spontaneous-and-postoperative-sclerosing-mesenteritis
#2
Jennifer Klasen, Ulrich Güller, Brigitte Muff, Daniel Candinas, Christian A Seiler, René Fahrner
Sclerosing mesenteritis is a rare pathology with only a few described cases in the literature. The etiology is unclear; however, several potential triggers, including abdominal surgery and abdominal trauma, have been discussed. The pathology includes a benign acute or chronic inflammatory process affecting the adipose tissue of the mesenterium. Despite it being a rare disease, sclerosing mesenteritis is an important differential diagnosis in patients after abdominal surgery or patients presenting spontaneously with signs of acute inflammation and abdominal pain...
November 27, 2016: World Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27932130/acute-liver-failure-caused-by-primary-non-hodgkin-s-lymphoma-of-the-liver
#3
L Romacho López, F J León Díaz, B Sánchez Pérez, J A Pérez Daga, J L Fernández Aguilar, M C Montiel Casado, J M Aranda Narváez, M A Suárez Muñoz, J Santoyo Santoyo
INTRODUCTION: Acute liver failure (ALF) is a rare syndrome involving maximum liver dysfunction. This disease is characterized by a less than 26-week history of coagulopathy (INR ≥1.5) and hepatic encephalopathy and generally occurs in patients without any previously known disease. METHODS: We report the case of a healthy 25-year-old subject who presented with fulminant liver failure caused by a primary non-Hodgkin's lymphoma of the liver that required emergency liver transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27930568/does-vaccination-ensure-protection-assessing-diphtheria-and-tetanus-antibody-levels-in-a-population-of-healthy-children-a-cross-sectional-study
#4
Ewelina Gowin, Jacek Wysocki, Ewelina Kałużna, Bogna Świątek-Kościelna, Joanna Wysocka-Leszczyńska, Michał Michalak, Danuta Januszkiewicz-Lewandowska
Vaccination effectiveness is proven when the disease does not develop after a patient is exposed to the pathogen. In the case of rare diseases, vaccination effectiveness is assessed by monitoring specific antibody levels in the population. Such recurrent analyses allow the evaluation of vaccination programs. The primary schedule of diphtheria and tetanus vaccinations is similar in various countries, with differences mainly in the number and timing of booster doses. The aim of the study was to assess diphtheria and tetanus antibody concentrations in a population of healthy children...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27928881/measuring-the-quality-of-haemophilia-care-across-different-settings-a-set-of-performance-indicators-derived-from-demographics-data
#5
A Iorio, J S Stonebraker, M Brooker, J M Soucie
BACKGROUND: Haemophilia is a rare disease for which quality of care varies around the world. We propose data-driven indicators as surrogate measures for the provision of haemophilia care across countries and over time. MATERIALS AND METHODS: The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. General population epidemiological data and haemophilia A population data from the World Federation of Hemophilia (WFH) Annual Global Survey (AGS) for the years 2013 and 2010 in a sample of 10 countries were used for this pilot exercise...
December 8, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27928786/-implementation-of-multidisciplinary-team-in-the-diagnosis-and-treatment-of-gastroenteropancreatic-neuroendocrine-neoplasm
#6
Panpan Zhang, Lin Shen
Multidisciplinary team(MDT) has been considered as the best practice in the treatment planning and care for patients with cancer around the world. With the increased range and number of specialists involved, multidisciplinary coordination and communication have been enhanced, and the efficiency and quality of diagnosis and treatment of cancer have been improved. Neuroendocrine neoplasm (NEN) is a heterogeneous group of tumors originating from neuroendocrine cells located throughout the body, most of which is gastroenteropancreatic neuroendocrine neoplasm (GEP-NEN)...
November 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27928263/a-36-year-old-woman-with-coronary-artery-dissection-two-weeks-after-abortion
#7
Arsalan Salari, Mahboobe Gholipur, Maedeh Rezaeidanesh, Anoosh Barzigar, Shahram Rahmani, Mohadeseh Pursadeghi, Hannan Ebrahimi
Spontaneous coronary artery dissection is a rare cause of acute coronary syndrome and sudden cardiac death. We report coronary artery dissection in a 36-year-old woman with retrosternal chest pain 2 weeks after abortion. Electrocardiography showed ST elevation in leads V2-V4 and ST depression in the inferior leads. Lab data were normal. Cardiac catheterization showed a suspicious thrombotic lesion at the proximal portion of the left anterior descending artery with a smooth contour consistent with distal haziness and dissection site...
April 13, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/27926957/-marcello-malpighi-1628-1694-and-the-terms-miliary-and-tubercle
#8
H J Klippe, D Kirsten
Today Miliary Tuberculosis in Central Europe is a rare disease, quite often with resulting diagnostic uncertainty. The terms "miliary" and "tubercle" are outlined with their up to now accepted historical roots. An analysis of Marcello Malpighi's quite unknown post-mortem reports by the Italian author L. Munster reveals an earlier use of both terms than described till now.
December 2016: Pneumologie
https://www.readbyqxmd.com/read/27926670/clinical-and-radiographical-differences-between-thoracic-idiopathic-spinal-cord-herniation-and-spinal-arachnoid-cyst
#9
Hiroaki Nakashima, Shiro Imagama, Hideki Yagi, Fumihiko Kato, Tokumi Kanemura, Koji Sato, Noriaki Kawakami, Mitsuhiro Kamiya, Hisatake Yoshihara, Kenyu Ito, Yukihiro Matsuyama, Yoshihiro Nishida, Naoki Ishiguro
STUDY DESIGN: Retrospective multicenter case-controlled study OBJECTIVE.: The aim of this study was to investigate the clinical and radiographical differences between thoracic idiopathic spinal cord herniation (ISCH) and spinal arachnoid cyst (SAC). SUMMARY AND BACKGROUND DATA: ISCH and SAC are relatively rare diseases. Preoperative misdiagnose was frequently reported in both, however these clinical and radiographical differences remain unclear. METHODS: Out of 30,469 patients who underwent spinal surgery, 18 (0...
December 6, 2016: Spine
https://www.readbyqxmd.com/read/27925469/complications-of-pulmonary-hypertension-a-pictorial-review
#10
Sze Mun Mak, Nicola Strickland, Deepa Gopalan
Pulmonary hypertension (PH) is a rare disease with significant morbidity and mortality if untreated. The disease has multifactorial etiology and is often associated with insidious onset of signs and symptoms. Multimodality imaging is often required for establishing the diagnosis, evaluating the underlying hemodynamic compromise and follow up after institution of therapy. The range of potential complications associated with PH vary widely. We aim to summarise the imaging findings of complications that the radiologist should be familiar with...
December 7, 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27923545/ten-plus-one-challenges-in-diseases-of-the-lysosomal-system
#11
Gregory A Grabowski, Chester Whitley
The advent of the first effective specific therapy for a lysosomal storage disease (LSDs), Gaucher disease type 1, by Roscoe O. Brady was foundational for development of additional treatments for this group of rare diseases. The past 26years, since the approval of enzyme therapy for Gaucher disease type 1, have witnessed a burgeoning understanding of LSDs at genetic, molecular, biochemical, cell biologic, and clinical levels. Simultaneously, this expansion of knowledge has exposed our incomplete understanding of the individual pathophysiologies of LSDs as well as difficult challenges for improvement in therapy and therapeutic outcomes for afflicted individuals...
November 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27923520/sclerodermatomyositis-ocular-manifestations
#12
M Pedroza-Seres, J C Serna-Ojeda, L F Flores-Suárez
BACKGROUND: Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. CLINICAL CASE: A 57 year-old woman presented with ophthalmological manifestations, including scleral thinning 360°, and the presence of cells in the anterior and posterior chamber. Oriented physical examination and laboratory studies led to the diagnosis, with the need for systemic treatment...
December 3, 2016: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/27923222/pediatric-primary-diffuse-leptomeningeal-primitive-neuroectodermal-tumor-a-case-report-and-literature-review
#13
Jesna Mathew Sublett, Caitlin Davenport, Howard Eisenbrock, Shamsher Dalal, Syed A Jaffar Kazmi, Amir Kershenovich
BACKGROUND: Primary diffuse leptomeningeal primitive neuroectodermal tumor (PDL PNET) is extremely rare, with only 19 cases reported in the literature to date. We present a case of a child with rapidly progressive PDL PNET and a literature review. A 10-year-old boy presented with mood lability, hallucinations, generalized pain, enuresis, and headaches. Initial investigation failed to produce a diagnosis. The symptoms progressed to seizure, back pain, and papilledema. Imaging showed acute hydrocephalus and mild diffuse leptomeningeal enhancement without an identifiable primary lesion...
December 7, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27922497/autoimmune-myopathies
#14
Andrew L Mammen
PURPOSE OF REVIEW: This article provides guidelines for diagnosing and treating the different subtypes of autoimmune myopathies. RECENT FINDINGS: The most common subtypes of autoimmune myopathies are dermatomyositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and overlap syndromes; isolated polymyositis is an exceptionally rare disease. Specific autoantibodies are associated with unique clinical phenotypes and may be used for diagnostic and prognostic purposes, such as to assess the risk of coexisting malignancy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27921277/surgery-for-acute-exacerbation-of-chronic-mesenteric-ischemia-a-case-report
#15
Shinji Abe, Tomoji Yamakawa, Hideaki Kawashima, Makoto Yoshida, Setsuji Takanashi, Motoya Kashiyama, Masahiro Ishigooka, Yasushige Shingu, Yoshiro Matsui
BACKGROUND: Chronic mesenteric ischemia (CMI) is a rare disease; however, symptomatic CMI has a risk of acute exacerbation without timely revascularization. CASE PRESENTATION: A 54-year-old man who had had postprandial pain for 6 months was admitted to our hospital because of vomiting and diarrhea. Although the celiac and superior mesenteric arteries were occluded at the proximal portion, contrast enhancement of the bowel wall was good in contrast-enhanced computed tomography (CECT)...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#16
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
December 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27920348/confirmatory-factor-analysis-alternative-free-accessible-cbid-software
#17
Marjorie Bott, Alex G Karanevich, Lili Garrard, Larry R Price, Dinesh Pal Mudaranthakam, Byron Gajewski
New software that performs Classical and Bayesian Instrument Development (CBID) is reported that seamlessly integrates expert (content validity) and participant data (construct validity) to produce entire reliability estimates with smaller sample requirements. The free CBID software can be accessed through a website and used by clinical investigators in new instrument development. Demonstrations are presented of the three approaches using the CBID software: (a) traditional confirmatory factor analysis (CFA), (b) Bayesian CFA using flat uninformative prior, and (c) Bayesian CFA using content expert data (informative prior)...
December 5, 2016: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/27919985/clinical-outcomes-of-definitive-and-postoperative-radiotherapy-for-stage-i-ivb-hypopharyngeal-cancer
#18
Katsuyuki Shirai, Jun-Ichi Saitoh, Atsuhi Musha, Takanori Abe, Daijiro Kobayashi, Yosuke Takakusagi, Yukihiro Takaysu, Masato Shino, Minoru Toyoda, Katsumasa Takahashi, Kazuaki Chikamatsu, Tatsuya Ohno, Takashi Nakano
BACKGROUND: Hypopharyngeal cancer is relatively rare disease and continues to have a poor prognosis. This study analyzed the efficacy and safety of radiotherapy for stage I-IVB hypopharyngeal cancer. PATIENTS AND METHODS: Between 2000 and 2015, 72 patients were treated with definitive radiotherapy and 29 patients with stage IVA were treated with postoperative radiotherapy. RESULTS: With definitive radiotherapy, the 3-year locoregional control rates for stage I-II, III, IVA, and IVB disease were 89%, 74%, 51% and 0%, respectively...
December 2016: Anticancer Research
https://www.readbyqxmd.com/read/27919670/how-to-favour-efficient-networking-of-teams-working-in-the-field-of-rare-diseases-experience-of-the-cer%C3%A3-mai-reference-centre-for-autoinflammatory-diseases
#19
EDITORIAL
Isabelle Touitou, Florian Milhavet, Véronique Hentgen, Isabelle Koné-Paut
No abstract text is available yet for this article.
December 2, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27919470/spontaneous-sublingual-haematoma-in-acquired-haemophilia-case-report
#20
T Spindler, N Mc Goldrick, J McMahon, R Campbell Tait
Acquired haemophilia is a rare disease in which bleeding is more severe than in hereditary haemophilia and usually occurs in the soft tissues, the gastrointestinal tract, or the mucous membranes. There have been only a few presentations of spontaneous sublingual haematoma in acquired haemophilia, but prompt management of the airway and identification of the underlying cause was crucial in all.
December 2, 2016: British Journal of Oral & Maxillofacial Surgery
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