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https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27914061/probing-oligomerized-conformations-of-defensin-in-the-membrane
#2
Wenxun Gan, Dina Schneidman, Ning Zhang, Buyong Ma, Ruth Nussinov
Computational prediction and design of membrane protein-protein interactions facilitate biomedical engineering and biotechnological applications. Due to their antimicrobial activity, human defensins play an important role in the innate immune system. Human defensins are attractive pharmaceutical targets due to their small size, broad activity spectrum, reduced immunogenicity, and resistance to proteolysis. Protein engineering based modification of defensins can improve their pharmaceutical properties. Here we present an approach to computationally probe defensins' oligomerization states in the membrane...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27913938/cardiotoxic-and-dyslipidemic-effects-of-doxorubicin-and-betulinic-acid-amide
#3
M G Klinnikova, E L Lushnikova, E V Koldysheva, T G Tolstikova, I V Sorokina, E I Yuzhik, M M Mzhelskaya
Changes in the blood lipid spectrum and structural reorganization of the rat myocardium in response to injection of a single sublethal dose of doxorubicin (7 mg/kg) alone and in combination with course administration of betulonic acid amide (100 mg/kg/day for 14 days) were studied. Betulinic acid amide in the specified dose exhibited less pronounced cardiotoxic (necrobiotic impairment of cardiomyocytes) and dyslipidemic (increase of cholesterol and triglyceride levels) effects in comparison with doxorubicin...
December 3, 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27913895/work-accommodations-and-natural-supports-for-employees-with-severe-mental-illness-in-social-businesses-an-international-comparison
#4
Patrizia Villotti, Marc Corbière, Ellie Fossey, Franco Fraccaroli, Tania Lecomte, Carol Harvey
Little is known about the types of work accommodations and natural supports that are useful for people experiencing severe mental illness working in social businesses. We conducted an exploratory, descriptive and cross-sectional investigation in Australia, Canada and Italy to study the nature of work accommodations and natural supports available in social businesses. Study findings are drawn from survey responses of a convenience sample of 90 employees with self-reported psychiatric disabilities. Results showed that, regardless of the country, social businesses provide many work accommodations and natural supports, especially those linked to schedule flexibility and support, while work accommodations related to training and schedule flexibility were linked to longer job tenure...
December 3, 2016: Community Mental Health Journal
https://www.readbyqxmd.com/read/27913626/ring-enhancing-spinal-cord-lesions-in-neuromyelitis-optica-spectrum-disorders
#5
Nicholas L Zalewski, Padraig P Morris, Brian G Weinshenker, Claudia F Lucchinetti, Yong Guo, Sean J Pittock, Karl N Krecke, Timothy J Kaufmann, Dean M Wingerchuk, Neeraj Kumar, Eoin P Flanagan
OBJECTIVE: We assessed the frequency and characteristics of ring-enhancing spinal cord lesions in neuromyelitis optica spectrum disorder (NMOSD) myelitis and myelitis of other cause. METHODS: We reviewed spinal cord MRIs for ring-enhancing lesions from 284 aquaporin-4 (AQP4)-IgG seropositive patients at Mayo Clinic from 1996 to 2014. Inclusion criteria were as follows: (1) AQP4-IgG seropositivity, (2) myelitis attack and (3) MRI spinal cord demonstrating ring-enhancement...
December 2, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27913598/describing-visible-acute-injuries-development-of-a-comprehensive-taxonomy-for-research-and-practice
#6
Tony Rosen, Christopher Reisig, Veronica M LoFaso, Elizabeth M Bloemen, Sunday Clark, Thomas J McCarthy, Estomih P Mtui, Neal E Flomenbaum, Mark S Lachs
BACKGROUND: Little literature exists classifying and comprehensively describing intentional and unintentional acute injuries, which would be valuable for research and practice. In preparation for a study of injury patterns in elder abuse, our goal was to develop a comprehensive taxonomy of relevant types and characteristics of visible acute injuries and evaluate it in geriatric patients. METHODS: We conducted an exhaustive review of the medical and forensic literature focusing on injury types, descriptions, patterns and analyses...
December 2, 2016: Injury Prevention: Journal of the International Society for Child and Adolescent Injury Prevention
https://www.readbyqxmd.com/read/27913533/non-hodgkin-lymphoma-across-the-pediatric-and-adolescent-and-young-adult-age-spectrum
#7
John T Sandlund, Mike G Martin
The non-Hodgkin lymphomas (NHLs) occurring in children and adolescents and young adults (AYA) are characterized by various age-related differences in tumor biology and survival. Children generally present with high-grade lymphomas, such as Burkitt lymphoma, diffuse large B-cell lymphoma, lymphoblastic lymphoma, and anaplastic large cell lymphoma, whereas low-grade histologic subtypes, such as follicular lymphoma, occur more frequently with increasing age. Treatment outcome for children with NHL is generally superior to that observed in adults...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913508/risk-stratification-and-management-of-acute-pulmonary-embolism
#8
Cecilia Becattini, Giancarlo Agnelli
The clinical management of patients with acute pulmonary embolism is rapidly changing over the years. The widening spectrum of clinical management strategies for these patients requires effective tools for risk stratification. Patients at low risk for death could be candidates for home treatment or early discharge. Clinical models with high negative predictive value have been validated that could be used to select patients at low risk for death. In a major study and in several meta-analyses, thrombolysis in hemodynamically stable patients was associated with unacceptably high risk for major bleeding complications or intracranial hemorrhage...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913500/fitness-in-the-elderly-how-to-make-decisions-regarding-acute-myeloid-leukemia-induction
#9
Arati V Rao
Acute myeloid leukemia (AML) is a disease of the elderly, but less than half of these patients are offered therapy despite the evidence of better survival with treatment in this patient population. Assessing fit, vulnerable, and frail older adults with AML remains a challenge for the treating oncologist. A majority of AML patients are elderly and often have significant comorbidities, lack of social support, and older caregivers. Performance status (PS), a subjective measure of how a patient will tolerate cancer chemotherapy, has been strongly correlated with mortality in older AML patients...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913440/optical-coherence-tomographic-angiography-of-choroidal-neovascularization-ill-defined-with-fluorescein-angiography
#10
Mehrdad Malihi, Yali Jia, Simon S Gao, Christina Flaxel, Andreas K Lauer, Thomas Hwang, David J Wilson, David Huang, Steven T Bailey
PURPOSE: To evaluate the morphological structure of ill-defined choroidal neovascularisation (CNV) with traditional fluorescein angiography (FA) compared with optical coherence tomographic angiography (OCTA). METHODS: A retrospective case series study of 11 eyes with ill-defined CNV on FA was performed. Eyes were scanned with commercially available spectral-domain optical coherence tomography (OCT) (70 000 A-scans/s). The split-spectrum amplitude-decorrelation angiography (SSADA) algorithm was used to distinguish blood flow from static tissue...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913346/automatic-design-of-high-sensitivity-color-filter-arrays-with-panchromatic-pixels
#11
Jia Li, Chenyan Bai, Zhouchen Lin, Jian Yu
In most of existing digital cameras, color images have to be reconstructed from raw images which only have one color sensed at each pixel, as their imaging sensors are covered by color filter arrays (CFAs). At each pixel a CFA usually allows only a portion of the light spectrum to pass through and thereby reduces the light sensitivity of pixels. To address this issue, previous works have explored adding panchromatic pixels into CFAs. However, almost all existing methods assign panchromatic pixels empirically, making the designed CFAs prone to aliasing artifacts...
December 1, 2016: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/27913343/a-frequency-shift-method-to-measure-shear-wave-attenuation-in-soft-tissues
#12
Simon Bernard, Siavash Kazemirad, Guy Cloutier
In vivo quantification of shear wave attenuation in soft tissues may help to better understand human tissue rheology and lead to new diagnostic strategies. Attenuation is difficult to measure in acoustic radiation force elastography because the shear wave amplitude decreases due to a combination of diffraction and viscous attenuation. Diffraction correction requires assuming a cylindrical wavefront and an isotropic propagation medium, which may not be the case in some applications. In this study, the frequency shift method, used in ultrasound imaging and seismology, was adapted for shear wave attenuation measurement in elastography...
December 1, 2016: IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control
https://www.readbyqxmd.com/read/27913194/genetic-screening-of-thap1-in-primary-dystonia-patients-of-india
#13
Subhajit Giri, Tufan Naiya, Zaffar Equbal, Charulata Savant Sankhla, Shyamal Kumar Das, Kunal Ray, Jharna Ray
BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in Indians. METHODS: The study cohort contained 227 index primary pure dystonia patients with the involvement of cervical region and 254 neurologically control individuals collected from East Indian population...
November 29, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27913157/further-evidence-of-alerted-default-network-connectivity-and-association-with-theory-of-mind-ability-in-schizophrenia
#14
Omar Mothersill, Noreen Tangney, Derek W Morris, Hazel McCarthy, Thomas Frodl, Michael Gill, Aiden Corvin, Gary Donohoe
BACKGROUND: Resting-state functional magnetic resonance imaging (rs-fMRI) has repeatedly shown evidence of altered functional connectivity of large-scale networks in schizophrenia. The relationship between these connectivity changes and behaviour (e.g. symptoms, neuropsychological performance) remains unclear. METHODS: Functional connectivity in 27 patients with schizophrenia or schizoaffective disorder, and 25 age and gender matched healthy controls was examined using rs-fMRI...
November 29, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#15
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27912999/palliative-care-and-physiatry-in-the-oncology-care-spectrum-an-opportunity-for-distinct-and-collaborative-approaches
#16
REVIEW
Vishwa S Raj, Julie K Silver, Terrence M Pugh, Jack B Fu
As cancer evolves from a terminal illness to a chronic medical condition, so too does the view of clinical services. Palliative care and physical medicine and rehabilitation (PM&R) will increase in acceptance because they provide a valuable resource. The overarching theme is improving cancer-related symptoms or treatment-related side effects, improving patient health-related quality of life, lessening caregiver burden, and valuing patient-centered care and shared decision making. Managing symptom burden may improve therapy participation/performance...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27912990/cancer-rehabilitation-an-overview-of-current-need-delivery-models-and-levels-of-care
#17
REVIEW
Andrea L Cheville, Karen Mustian, Kerri Winters-Stone, David S Zucker, Gail L Gamble, Catherine M Alfano
The relevance of cancer rehabilitation as a public health issue grows steadily as cancer incidence, survival, and mean patient age increase. Reported rates of physical impairment and disability are already high, prior to the anticipated influx of aged cancer survivors. Despite the high prevalence of cancer-related disablement, treatment rates, even for readily remediable physical impairments, are as low as 1-2%. In addition to low referral rates, a challenge to patient-centric cancer rehabilitation is a fractured system that requires multiple visits to a range of specialists to address even a single issue, and cancer survivors generally have several...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27912972/fate-of-males-with-urethral-y-duplication-40-year-long-follow-up-in-8-patients
#18
Mario Lima, Francesca Destro, Neil Di Salvo, Tommaso Gargano, Giovanni Ruggeri
PURPOSE: The spectrum of male urethral duplication is heterogeneous and it includes the Y-duplication. The malformation is rare and there is only a few case series reported in the literature. The management of Y-forms remains challenging for the surgeon and the long-term follow-up is still scarcely investigated. We report our 40-year experience in the management of patients with Y-duplication. MATERIALS AND METHODS: We conducted a restrospective analysis collecting information of patients with urethral Y-duplication treated at our department from April 1975 to April 2015...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27912946/addressing-holistic-healthcare-needs-of-oncology-patients-implementation-and-evaluation-of-a-complementary-and-alternative-medicine-cam-course-within-an-elective-module-designed-for-healthcare-professionals
#19
Nadja Klafke, Angelika Homberg, Katharina Glassen, Cornelia Mahler
BACKGROUND: Patients, and especially oncology patients, increasingly demand information and application of complementary therapies to supplement their conventional medical treatment and follow-up care. Due to the widespread interest in holistic treatment opportunities in oncology populations, healthcare professionals need to be prepared in differentiating evidence-based methods of the complementary and alternative medicine (CAM) spectrum and how to consult with patients about it. OBJECTIVE: This paper reports on the implementation and evaluation of a newly designed module "Complementary and Alternative Medicine in oncological healthcare" in the bachelor degree program Interprofessional Health Care (B...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27912876/in-vitro-and-ex-vivo-activity-of-an-azadirachta-indica-a-juss-seed-kernel-extract-on-early-sporogonic-development-of-plasmodium-in-comparison-with-azadirachtin-a-its-most-abundant-constituent
#20
Nisha Dahiya, Giuseppina Chianese, Solomon Mequanente Abay, Orazio Taglialatela-Scafati, Fulvio Esposito, Giulio Lupidi, Massimo Bramucci, Luana Quassinti, George Christophides, Annette Habluetzel, Leonardo Lucantoni
BACKGROUND: NeemAzal(®) (NA) is a quantified extract from seed kernels of neem, Azadirachta indica A.Juss. (Meliaceae), with a wide spectrum of biological properties, classically ascribed to its limonoid content. NA contains several azadirachtins (A to L), azadirachtin A (AzaA) being its main constituent. AzaA has been shown to inhibit microgamete formation of the rodent malaria parasite Plasmodium berghei, and NA was found to completely inhibit the transmission of Plasmodium berghei to Anopheles stephensi mosquitoes when administered to gametocytemic mice at a corresponding AzaA dose of 50mg/kg before exposure to mosquitoes...
December 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
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