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https://www.readbyqxmd.com/read/28821205/cerebrospinal-fluid-circulating-tumor-cells-a-novel-tool-to-diagnose-leptomeningeal-metastases-from-epithelial-tumors
#1
Xuling Lin, Martin Fleisher, Marc Rosenblum, Oscar Lin, Adrienne Boire, Samuel Briggs, Yevgeniya Bensman, Brenda Hurtado, Larisa Shagabayeva, Lisa M DeAngelis, Katherine S Panageas, Antonio Omuro, Elena I Pentsova
Background: Diagnosis of leptomeningeal metastasis (LM) remains challenging due to low sensitivity of CSF cytology and infrequent unequivocal MRI findings. In a previous pilot study, we showed that rare cell capture technology (RCCT) could be used to detect circulating tumor cells (CTC) in the CSF of patients with LM from epithelial tumors. To establish the diagnostic accuracy of CSF-CTC in the diagnosis of LM, we applied this technique in a distinct, larger cohort of patients. Methods: In this institutional review board-approved prospective study, patients with epithelial tumors and clinical suspicion of LM underwent CSF-CTC evaluation and standard MRI and CSF cytology examination...
September 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28821190/fibromatosis-of-the-breast-diagnostic-accuracy-of-core-needle-biopsy
#2
M Gabriela Kuba, Susan C Lester, Catherine S Giess, Monica M Bertagnolli, Tad J Wieczorek, Jane E Brock
Objectives: Fibromatosis of the breast is an uncommon neoplasm with potential for local recurrence. Treatment has traditionally been surgical excision with current trends toward conservative management. Given the option of observation after diagnosis by core needle biopsy (CNB), we sought to evaluate the accuracy of CNB for diagnosing fibromatosis. Methods: We identified a total of 31 cases in which fibromatosis had been diagnosed or included in the differential diagnosis on a CNB, an excision, or both...
September 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28820901/using-local-ecological-knowledge-to-monitor-threatened-mekong-megafauna-in-lao-pdr
#3
Thomas N E Gray, Amphone Phommachak, Kongseng Vannachomchan, Francois Guegan
Pressures on freshwater biodiversity in Southeast Asia are accelerating yet the status and conservation needs of many of the region's threatened fish species are unclear. This impacts the ability to implement conservation activities and to understand the effects of infrastructure developments and other hydrological changes. We used Local Ecological Knowledge from fishing communities on the Mekong River in the Siphandone waterscape, Lao PDR to estimate mean and mode last capture dates of eight rare or culturally significant fish species in order to provide conservation monitoring baselines...
2017: PloS One
https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#4
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28820866/-surgical-treatment-of-choledocholithiasis-in-a-patient-with-situs-inversus-totalis-a-case-report-and-literature-review
#5
Jerson Francisco Morales-Rodríguez, Estefania Corina Cotillo, Oscar Moreno-Loaiza
Situs inversus totalis (SIT) is a rare condition, in which there is transposition of the thoraco-abdominal organs. This situation leads to diagnostic and therapeutic difficulties in patients with acute surgical abdomen. The objective of this report is to present the case of a patient who presented with colonic pain in the epigastrium and left hypochondrium, in which the diagnosis of SIT, cholelithiasis and choledocholithiasis was reached after the respective imaging studies. Once the diagnosis was made, treatment was performed through retrograde endoscopic cholangiopancreatography (ERCP) and subsequent surgical exploration of bile ducts...
July 26, 2017: Medwave
https://www.readbyqxmd.com/read/28820736/long-qt-syndrome-diagnosed-in-two-sisters-with-propionic-acidemia-a-case-report
#6
Ensar Duras, Ahmet İrdem, Ozan Özkaya
Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28820731/emphysematous-infections-of-the-urinary-tract-an-audit-of-20-patients-with-review-of-literature
#7
REVIEW
Sasanka Kumar Barua, Somor Jyoti Bora, Puskal Kumar Bagchi, Debanga Sarma, Mandeep Phukan, Saumar Jyoti Baruah, Thekampadum Puthenveetil Rajeev
Emphysematous infection of the urinary tract is a rapidly progressive, necrotizing infection which results into collection of gas and subsequent destruction of the tissues. Although very rare among general population, such necrotizing infection is common, particularly among those with compromised immune status. With the rising trend of people afflicted with diabetes mellitus globally, this fulminating infection may pose a serious threat to the medical fraternity. A high index of suspicion and abdominal CT scan usually helps to establish the diagnosis at an early stage and thereby facilitating aggressive antimicrobial therapy and percutaneous drainage where indicated...
August 18, 2017: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/28820727/sustained-off-treatment-response-after-discontinuation-of-long-term-nucleos-t-ide-analogue-treatment-in-hbeag-seronegative-hepatitis-b-a-case-series
#8
Marion Muche, Ulrike Meyer, Britta Siegmund, Rajan Somasundaram, Hans-Joerg Epple
International guidelines recommend lifelong nucleos(t)ide analogue (NA) treatment in individuals with chronic hepatitis B (CHB) infection who are hepatitis B e antigen (HBeAg) seronegative, because hepatitis B surface antigen (HBsAg) seroconversion is rarely achieved. However, after terminating therapy, sustained responses and HBsAg loss have been observed. Clinical characteristics identifying persons with favorable outcomes after discontinuing NA therapy have not yet been defined. This case series describes outcomes of 6 individuals with HBeAg-seronegative CHB infection without cirrhosis and low plasma levels of HBsAg who discontinued long-term NA treatment...
July 2017: Topics in Antiviral Medicine
https://www.readbyqxmd.com/read/28820647/acute-fatigue-negatively-affects-risk-factors-for-injury-in-trained-but-not-well-trained-habitually-shod-runners-when-running-barefoot
#9
Nicholas Tam, Devon R Coetzee, Safwaan Ahmed, Robert P Lamberts, Yumna Albertus-Kajee, Ross Tucker
INTRODUCTION: Many factors may contribute to running-related injury. These include fatigue and footwear, the combination of which has rarely been studied, in particular with reference to barefoot running, recently advocated as a method to reduce injury risk. METHODS: Twenty-two runners (12 well-trained and 10 trained) participated in a 10 km fatiguing trial. Knee and ankle joint kinematics and kinetics and electromyography were assessed during overground running in the barefoot and shod condition...
August 18, 2017: European Journal of Sport Science
https://www.readbyqxmd.com/read/28820560/severe-valvular-aortic-stenosis-and-fixed-subvalvular-aortic-stenosis-a-rare-and-challenging-combination
#10
Ayman Elbadawi, Marwan Saad, Islam Y Elgendy, Basarat Baig, Farhad Abtahian
A 58-year-old man with a history of hypertension presented with accelerating angina. Transthoracic echocardiography revealed a thickened aortic valve with pressure gradients and an estimated aortic valve area suggestive of mild aortic stenosis. Left heart catheterization demonstrated non-significant coronary artery disease. Pressure tracings showed a high left ventricular pressure and a mean gradient across the aortic valve of 69 mmHg. Subsequent transesophageal echocardiography revealed a subvalvular aortic stenosis that was secondary to the subaortic membrane, with severe valvular aortic stenosis...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820556/unusual-locations-for-cardiac-papillary-fibroelastomas
#11
Davide Carino, Francesco Nicolini, Alberto Molardi, Clara Indira Dadamo, Tiziano Gherli
Papillary fibroelastomas (PFEs) are rare and benign cardiac tumors which usually are localized on the valves (mostly on the aortic valve), though they may originate also from the ventricles or atrial walls. Whilst, in the large majority of cases, these lesions are asymptomatic they may cause serious complications such as thromboembolic events, or more rarely valvular dysfunctions. Surgical excision is necessary for a symptomatic lesion. The management of asymptomatic lesions is not defined. Herein are reported the details of a miniseries of six cases operated on at the authors' institution between 2005 and 2015...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820555/satellite-atrial-septal-vegetations-secondary-to-mitral-valve-endocarditis
#12
Germán Cedielq, Marta Guillen Marzo, Ramón de Castro Aritmendiz, Jairo Toro Gil, Alfredo Bardají
Infective endocarditis is a challenging clinical problem with a high rate of mortality. Early recognition of this disease, and especially its complications, remain a critical task for the cardiologist. In this scenario, atrial endocarditis is a rare and sometimes unrecognized complication of mitral valve endocarditis. Herein is reported a clinical case that shows how a satellite vegetation in the atrial septum can be produced in a patient with mitral regurgitation secondary to mitral valve endocarditis. Video 1: Transthoracic echocardiography showing the presence of vegetation in the posterior mitral leaflet, severe secondary mitral regurgitation, and satellite vegetation in the atrial septum...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820551/fungal-endocarditis-due-to-aspergillus-oryzae-the-first-case-reported-in-the-literature
#13
Andrea Mazza, Nicola Luciani, Marco Luciani, Federico Cammertoni, Alessia Giaquinto, Natalia Pavone, Piergiorgio Bruno, Massimo Massetti
Infective endocarditis (IE) is a severe disease with high mortality and morbidity. Prosthetic valve endocarditis is a life-threatening complication which can occur in less than 10% of patients with valve prosthesis. A fungal etiology of IE is rare and accounts for only 2-4% of all case of endocarditis, but is associated with a higher mortality and morbidity. Herein is reported the first case of fungal endocarditis of aortic valve prosthesis due to Aspergillus oryzae in a 67-year-old caucasian man who nine years previously underwent mitral and aortic valve replacement with mechanical prostheses, and tricuspid annuloplasty for acute IE due to Enterococcus spp...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820418/pathological-adherence-of-placenta-case-reports
#14
R Sulukhia, L Melia, N Pirtskhalava, A Sukhiashvili
Major obstetric hemorrhage is the leading cause of maternal morbidity and mortality. In rare cases, life-threatening hemorrhage in pregnant women may result from abnormal adherence of placenta. Three grades of abnormal placental attachment are defined according to the depth of invasion: placenta accreta, placenta increta, and placenta percreta. An important risk factor for placenta abnormal adherence of placenta is placenta previa in the presence of a uterine scar. The increased prevalence of cesarean section, uterine surgery, and increasing parturient age and parity have led to an increased incidence of abnormal placentation, from one in 2,500 a quarter century ago, to one in 533 deliveries currently...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28820345/erythema-multiforme-triggered-by-treponema-pallidum-infection-in-an-hiv-infected-patient
#15
Luiz Gfab D'Elia Zanella, Érika F Sampaio, Rute F Lellis
We are currently facing a worldwide epidemic of syphilis. Clinical manifestations that are rarely seen have been encountered, leading the dermatologist to confront unusual clinical conditions in daily practice. Erythema multiforme triggered by syphilis is very rare and is also seldom reported in the literature. We report a case of secondary syphilis in an HIV-positive patient, whose clinical, pathologic and serologic features were consistent with the diagnosis of erythema multiforme triggered by syphilis.
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28820316/cell-cycle-related-metabolism-and-mitochondrial-dynamics-in-a-replication-competent-pancreatic-beta-cell-line
#16
Chiara Montemurro, Suryakiran Vadrevu, Tatyana Gurlo, Alexandra E Butler, Kenny E Vongbunyong, Anton Petcherski, Orian S Shirihai, Leslie S Satin, Daniel Braas, Peter C Butler, Slavica Tudzarova
Cell replication is a fundamental attribute of growth and repair in multicellular organisms. Pancreatic beta-cells in adults rarely enter cell cycle, hindering the capacity for regeneration in diabetes. Efforts to drive beta-cells into cell cycle have so far largely focused on regulatory molecules such as cyclins and cyclin-dependent kinases (CDKs). Investigations in cancer biology have uncovered that adaptive changes in metabolism, the mitochondrial network, and cellular Ca(2+) are critical for permitting cells to progress through the cell cycle...
August 18, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28820306/prognostic-value-of-estrogen-receptor-in-who-grade-iii-meningioma-a-long-term-follow-up-study-from-a-single-institution
#17
Lingyang Hua, Hongda Zhu, Jingrun Li, Hailiang Tang, Dapeng Kuang, Yin Wang, Feng Tang, Xiancheng Chen, Liangfu Zhou, Qing Xie, Ye Gong
OBJECTIVE Malignant meningioma is rare and classified as Grade III in the WHO classification of CNS tumors. However, the presence of estrogen receptor (ER) in WHO Grade III meningiomas and its correlation with patients' outcomes are still unclear. In this single-center cohort study, the authors analyzed clinical features, treatment, and prognosis of these malignant tumors in patients with long-term follow-up. METHODS A total of 87 patients who were pathologically diagnosed with WHO Grade III meningiomas between 2003 and 2008 were enrolled in this study and followed for at least 7 years...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28820293/lacrimal-gland-abscess-in-children-two-case-reports-and-literature-review
#18
Tracy Hiu Ting Lai, Frank Hiu Ping Lai, Tommy Chung Yan Chan, Alvin Lerrmann Young, Kelvin Kam Lung Chong
Acute suppurative bacterial dacryoadenitis (ASBD) with abscess formation is rarely seen in clinical practice. A retrospective review of medical records in the past 8 years identified two unilateral cases in children, one developed presumably after methicillin-sensitive Staphylococcus aureus (MSSA) conjunctivitis and the other due to community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infection. Computerized tomography scans showed globe indentation by the enlarged lacrimal glands with rim-enhancing lesions...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28820225/bilateral-thalamic-edema-from-coexisting-choroid-plexus-arteriovenous-malformation-and-sinus-thrombosis-case-report
#19
Ryan B Kochanski, Andrew K Johnson, Roham Moftakhar
Bilateral thalamic dysfunction secondary to venous congestion may result from either venous sinus thrombosis or high flow arteriovenous malformations or a combination of both. We present a case of bilateral thalamic edema resulting from concomitant choroid plexus arteriovenous malformation (AVM) and straight sinus thrombosis and describe our treatment approach. The patient presented with several weeks of progressive confusion and memory deficits. Magnetic resonance imaging and venography (MRI/ MRV) showed bilateral thalamic T2 hyperintensities and straight sinus thrombosis...
2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28820172/timing-of-surgery-in-traumatic-globe-dislocation
#20
Md Shahid Alam, Olma Veena Noronha, Bipasha Mukherjee
Traumatic globe dislocation into the maxillary sinus is a rare event and usually associated with a poor visual outcome if not managed appropriately. We report a 45-year-old female patient who presented to the emergency after blunt injury to her face with a door. Initial evaluation revealed nil perception of light and an apparently anophthalmic socket. Neuroimaging revealed large floor and medial wall fracture with dislocation of the globe into the maxillary sinus. The patient underwent exploration with repositioning of the globe and fracture repair...
August 2017: Indian Journal of Ophthalmology
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