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https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#1
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28527174/cerebral-venous-sinus-thrombosis-and-posterior-reversible-encephalopathy-syndrome-coexisting-in-a-woman-a-rare-coincidence
#2
Surekha Dabla, Himanshu Juneja, Anubha Garg, Renu Bansal, Surender Kumar
Cerebral venous sinus thrombosis (CVST) and posterior reversible encephalopathy syndrome (PRES) are two rare diseases which may present with similar symptoms and signs. We report a case with coexisting PRES and CVST in a 34 years old postpartum female presented with multiple episodes of generalized seizures and bilateral vision loss after delivery. MRI brain and venography revealed left transverse sinus, sigmoid sinus and internal cerebral vein thrombosis with vasogenic edema in bilateral parieto-occipital, right temporal and left frontal area, which was suggestive of posterior reversible encephalopathy syndrome (PRES)...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28527172/metastatic-crohn-s-disease
#3
Deepak N Amarapurkar, Amey Sonavane, Anjali D Amarapurkar
Metastatic cutaneous involvement is a rare extraintestinal manifestation of Crohn's disease. Presence of cutaneous noncaseating granulomas that are anatomically noncontiguous in location with a fistula or the gastrointestinal tract is a diagnostic hallmark. We present a case of inflammatory bowel disease initially diagnosed as ulcerative colitis, but later manifesting as intra-abdominal abscesses and ulcerated cutaneous lesions that on biopsy proved to be metastatic Crohn's disease. The patient promptly responded to corticosteroid therapy...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28526880/prognostic-relevance-of-uch-l1-and-%C3%AE-internexin-in-pancreatic-neuroendocrine-tumors
#4
Yu-Li Song, Run Yu, Xin-Wei Qiao, Chun-Mei Bai, Chong-Mei Lu, Yu Xiao, Ding-Rong Zhong, Jie Chen, Yu-Pei Zhao, Tai-Ping Zhang, Tian-Tian Song, He-Li Gao, Ying-Hua Wan, Lin Shen, Jie Chen, Bin Lv, Jian-Jiang Hao, Ye Zhang, Laura Tang, Yuan-Jia Chen
Prognostic biomarkers for the pancreatic neuroendocrine tumors are needed. Proteomic study on insulinoma has been rarely reported. We identified the differential expression of proteins between insulinoma and their paired tissues by proteomic analysis, and evaluated the prognostic significance of specific proteins in pancreatic neuroendocrine tumors including insulinoma. The differential expression of select proteins was validated in more than 300 tumors using immunohistochemical staining and western blot. Methylation of UCH-L1 promoter in tumors was examined by methylation specific PCR and validated by sequencing...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526593/cardiac-tamponade-as-an-initial-presentation-for-systemic-lupus-erythematosus
#5
William Li, Thomas Frohwein, Kenneth Ong
Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease which follows a relapsing and remitting course that can manifest in any organ system. While classic manifestations consist of arthralgia, myalgia, frank arthritis, a malar rash and renal failure to name a few, cardiac tamponade, however, is a far less common and far more dangerous presentation. We highlight the case of a 61year-old male with complaints of acute onset shortness of breath and generalized body aches associated with a fever and chills in the ER...
April 29, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28526564/direct-detection-of-anaplasma-phagocytophilum-by-polymerase-chain-reaction-followed-by-electrospray-ionization-mass-spectrometry-from-human-blood
#6
Heimo Lagler, Nicole Harrison, Manuel Kussmann, Markus Obermüller, Heinz Burgmann, Athanasios Makristathis, Michael Ramharter
Bacterial pathogens not detectable in commercial blood culture assays constitute an important challenge for infectious disease physicians, in particular if clinical symptoms of the illness are unspecific. In this report Anaplasma phagocytophilum was detected directly from a peripheral blood sample of a febrile patient reporting a tick bite by a commercial system based on polymerase chain reaction followed by electrospray ionization mass spectrometry. Therefore, the diagnosis of human granulocytic anaplasmosis infection was established by this diagnostic methodology for the first time...
May 16, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28526480/human-seasonal-and-circadian-studies-in-antarctica-halley-75-0-s
#7
Josephine Arendt, Benita Middleton
Living for extended periods in Antarctica exposes base personnel to extremes of daylength (photoperiod) and temperature. At the British Antarctic Survey base of Halley, 75(0)S, the sun does not rise for 110 d in the winter and does not set for 100 d in summer. Photoperiod is the major time cue governing the timing of seasonal events such as reproduction in many species. The neuroendocrine signal providing photoperiodic information to body physiology is the duration of melatonin secretion which reflects the length of the night: longer in the short days of winter and shorter in summer...
May 16, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28526473/coronary-flow-reserve-is-reduced-in-sarcoidosis
#8
Seref Kul, Gonul Aciksari Kutlu, Tolga Sinan Guvenc, Murat Kavas, Kenan Demircioglu, Yusuf Yilmaz, Halil Ibrahim Yakar, Asiye Kanbay, Sibel Boga, Mustafa Caliskan
BACKGROUND AND AIMS: Sarcoidosis is a multisystem disease with frequent cardiac involvement, albeit manifest cardiac disease is rare. Though epicardial coronary arteries are not frequently involved, microvascular disease is rather common in both symptomatic and asymptomatic patients. The mechanism of microvascular involvement has not been elaborated yet. The aim of this study is to investigate coronary flow velocity reserve (CFVR) using transthoracic echocardiography in patients with sarcoidosis but without known atherosclerotic coronary artery disease or risk factors for atherosclerosis...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28526295/large-scale-exploratory-genetic-analysis-of-cognitive-impairment-in-parkinson-s-disease
#9
Ignacio F Mata, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Vivianna M Van Deerlin, Beate Ritz, Rebecca Rausch, Stewart A Factor, Cathy Wood-Siverio, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Alberto J Espay, Fredy J Revilla, Johnna Devoto, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Cognitive impairment is a common and disabling problem in Parkinson's disease (PD). Identification of genetic variants that influence the presence or severity of cognitive deficits in PD might provide a clearer understanding of the pathophysiology underlying this important nonmotor feature. We genotyped 1105 PD patients from the PD Cognitive Genetics Consortium for 249,336 variants using the NeuroX array. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised [HVLT-R]), working memory/executive function (Letter-Number Sequencing and Trail Making Test [TMT] A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation [JoLO]), and global cognitive function (Montreal Cognitive Assessment)...
April 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#10
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28526246/impaired-mitophagy-facilitates-mitochondrial-damage-in-danon-disease
#11
Sherin I Hashem, Anne N Murphy, Ajit S Divakaruni, Matthew L Klos, Bradley C Nelson, Emily C Gault, Teisha J Rowland, Cynthia N Perry, Yusu Gu, Nancy D Dalton, William H Bradford, Eric J Devaney, Kirk L Peterson, Kenneth L Jones, Matthew R G Taylor, Ju Chen, Neil C Chi, Eric D Adler
RATIONALE: Lysosomal associated membrane protein type-2 (LAMP-2) is a highly conserved, ubiquitous protein that is critical for autophagic flux. Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized by developmental delay, skeletal muscle weakness, and severe cardiomyopathy. We previously found that human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from Danon patients exhibited significant mitochondrial oxidative stress and apoptosis...
May 16, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28526059/severe-polyserositis-induced-by-the-13-valent-pneumococcal-conjugate-vaccine-a-case-report
#12
Pierre Tawfik, Elie Gertner, Charlene E McEvoy
BACKGROUND: The United States Advisory Committee on Immunization Practices recommends administration of the 13-valent pneumococcal conjugate vaccine in series with the 23-valent pneumococcal polysaccharide vaccine for prevention of pneumonia in the elderly. Reports of autoimmune or auto-inflammatory diseases as a result of pneumococcal vaccination, especially pneumococcal conjugate vaccine, are extremely rare. CASE PRESENTATION: We present a case of severe serositis in a 75-year-old Caucasian woman complicated by pericardial and pleural effusions in the setting of recent 13-valent pneumococcal conjugate vaccine vaccination and no other obvious etiology...
May 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28526043/management-of-rare-diseases-of-the-head-neck-and-teeth-results-of-a-french-population-based-prospective-8-year-study
#13
Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla
BACKGROUND: In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France...
May 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28526015/construction-and-implications-of-structural-equation-modeling-network-for-pediatric-cataract-a-data-mining-research-of-rare-diseases
#14
Erping Long, Shuangjuan Xu, Zhenzhen Liu, Xiaohang Wu, Xiayin Zhang, Jinghui Wang, Wangting Li, Runzhong Liu, Zicong Chen, Kexin Chen, Tongyong Yu, Dongxuan Wu, Xutu Zhao, Jingjing Chen, Zhuoling Lin, Qianzhong Cao, Duoru Lin, Xiaoyan Li, Jingheng Cai, Haotian Lin
BACKGROUND: The majority of rare diseases are complex diseases caused by a combination of multiple morbigenous factors. However, uncovering the complex etiology and pathogenesis of rare diseases is difficult due to limited clinical resources and conventional statistical methods. This study aims to investigate the interrelationship and the effectiveness of potential factors of pediatric cataract, for the exploration of data mining strategy in the scenarios of rare diseases. METHODS: We established a pilot rare disease specialized care center to systematically record all information and the entire treatment process of pediatric cataract patients...
May 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28525934/parathyroid-hormone-levels-predict-long-term-outcome-after-operative-management-of-parathyroid-cancer
#15
Andreas Machens, Kerstin Lorenz, Henning Dralle
The role of parathyroid hormone (PTH) serum levels for prediction of outcome is ill defined for parathyroid cancer, which is a very rare disease. This investigation of 17 consecutive patients with parathyroid cancer, (re-)operated on at a tertiary referral center between 1994 and July 2016, with a mean follow-up of 179.6 months (15 years) aimed to clarify the suitability of PTH serum levels for prediction of clinical outcome after comprehensive operative management of parathyroid cancer. Cancer-specific mortality occurred significantly more often with the performance of sternotomy before or at first operation at this institution (80 vs...
May 19, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28525812/clinical-characteristics-and-prrt2-gene-mutation-analysis-of-sporadic-patients-with-paroxysmal-kinesigenic-dyskinesia-in-china
#16
Yu Zhang, Lin Li, Wei Chen, Jing Gan, Zhen Guo Liu
OBJECTIVE: As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China. PATIENTS AND METHODS: We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients with paroxysmal kinesigenic dyskinesia in china. The clinical and investigational data of our patients was recorded and analyzed meticulously...
May 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28525619/epidemiology-and-clinical-characteristics-of-invasive-mould-infections-a-multicenter-retrospective-analysis-in-five-asian-countries
#17
R Porpon, Y C Chen, A Chakrabarti, R Y Li, R M Shivaprakash, J Yu, H C Kung, S Watcharananan, A L Tan, S E Saffari, B H Tan
Formal, large-scale, multicenter studies of invasive mould infection (IMI) in Asia are rare. This 1-year, retrospective study was designed to assess the incidence and clinical determinants of IMI in centers in five countries (Thailand, Taiwan, Singapore, China, India). Patients treated in a single year (2012) were identified through discharge diagnoses, microbiology, and histopathology logs, and entered based on published definitions of IMI. A total of 155 cases were included (median age 54 years; 47.7% male)...
May 19, 2017: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/28525588/diving-and-long-term-cardiovascular-health
#18
K Åsmul, Å Irgens, M Grønning, A Møllerløkken
Background: Short-term cardiovascular effects from ambient pressure exposure are known. However, long-term cardiovascular effects from diving in humans have been less studied. Aims: To examine possible long-term cardiovascular health effects from occupational diving. Methods: We compared the prevalence of cardiovascular disease in former divers to non-divers. We obtained data on male former divers with a certificate valid for professional diving after 1980, from the Norwegian Diver 2011 project, and matched data on the general male population from the HUNT3 Survey...
May 19, 2017: Occupational Medicine
https://www.readbyqxmd.com/read/28525523/acute-exacerbation-of-interstitial-lung-disease-after-cryobiopsy
#19
Rade Tomic, Gustavo A Cortes-Puentes, Paari Murugan, Hyun Joo Kim, Khalid Amin, H Erhan Dincer
Cryotherapy has been used in treatment of lung cancer for decades. The utility of cryotechnology in diagnosis of lung diseases is emerging and gaining popularity. Cryobiopsy (CB) of the lung, when compared with conventional transbronchial forceps lung biopsy, has proposed to have a higher diagnostic yield in interstitial lung disease by providing larger biopsy specimen and less crush artifact. Acute exacerbation of interstitial lung disease (AEILD) has been well described with surgical lung biopsies and, rarely, with conventional transbronchial forceps biopsy...
May 18, 2017: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/28525463/fdg-pet-ct-as-a-new-method-for-diagnosis-and-whole-body-evaluation-of-lemierre-syndrome
#20
Jordy P Pijl, Andor W J M Glaudemans, Riemer H J A Slart, Thomas C Kwee
Lemierre syndrome is a rare disease that is defined by a pharyngeal infection, complicated by septicemia and internal jugular vein thrombosis followed by septic emboli. Because of its rarity, a delay in diagnosis is not uncommon. However, given the mortality rate of approximately 2%, prompt diagnosis and detection of septic emboli are essential to initiate prompt treatment, preventing organ damage and ongoing sepsis. We present 3 cases that demonstrate the value of FDG-PET/CT as a possible alternative or adjunct to conventional imaging methods for diagnosis and whole-body evaluation of Lemierre syndrome...
May 19, 2017: Clinical Nuclear Medicine
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