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https://www.readbyqxmd.com/read/29933521/next-generation-sequencing-improves-treatment-efficacy-and-reduces-hospitalization-in-children-with-drug-resistant-epilepsy
#1
Jing Peng, Nan Pang, Ying Wang, Xiao-Le Wang, Jian Chen, Juan Xiong, Pan Peng, Can-Hui Zhu, Miriam Barakael Kessi, Fang He, Fei Yin
BACKGROUND: The purposes of this study were three-fold: (i) to determine the contribution of known genes to the causation of a broad-spectrum of pediatric drug-resistant epilepsy (DRE), (ii) to compare the diagnostic yield and cost among different next-generation sequencing (NGS) approaches, and especially (iii) to assess how NGS approaches can benefit patients by improving diagnosis and treatment efficiency. METHODS: This study enrolled 273 pediatric DRE patients with no obvious acquired etiology...
June 22, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29933496/-recommendations-for-diagnosis-and-treatment-of-fractures-of-the-ring-of-axis
#2
Matti Scholz, Philipp Schleicher, Frank Kandziora, Andreas Badke, Marc Dreimann, Harry Gebhard, Erol Gercek, Oliver Gonschorek, René Hartensuer, Jan-Sven Gilbert Jarvers, Sebastian Katscher, Philipp Kobbe, Holger Koepp, Andreas Korge, Stefan Matschke, Sven Mörk, Christian W Müller, Georg Osterhoff, Ferenc Pécsi, Miguel Pishnamaz, Maximilian Reinhold, Gregor Schmeiser, Klaus John Schnake, Kristian Schneider, Ulrich Josef Albert Spiegl, Bernhard Ullrich
In a consensus process with four sessions in 2017, the working group "upper cervical spine" of the German Society for Orthopaedics and Trauma Surgery (DGOU) formulated "Therapeutic Recommendations for the Diagnosis and Treatment of Upper Cervical Fractures", taking their own experience and the current literature into consideration. The following article describes the recommendations for axis ring fractures (traumatic spondylolysis C2). About 19 to 49% of all cervical spine injuries include the axis vertebra...
June 22, 2018: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/29933490/assessment-of-individuals-with-primary-progressive-aphasia
#3
Maya L Henry, Stephanie M Grasso
Speech-language pathologists play a crucial role in the assessment and treatment of individuals with primary progressive aphasia (PPA). The speech-language evaluation is a critical aspect of the diagnostic and rehabilitative process, informing differential diagnosis as well as intervention planning and monitoring of cognitive-linguistic status over time. The evaluation should include a thorough case history and interview and a detailed assessment of speech-language and cognitive functions, with tasks designed to detect core and associated deficits outlined in current diagnostic criteria...
July 2018: Seminars in Speech and Language
https://www.readbyqxmd.com/read/29933396/diagnostic-performance-of-diffusion-weighted-imaging-for-prostate-cancer-peripheral-zone-versus-transition-zone
#4
Hakmin Lee, Sung Il Hwang, Hak Jong Lee, Seok-Soo Byun, Sang Eun Lee, Sung Kyu Hong
OBJECTIVES: Diffusion-weighted imaging (DWI) has been shown to be an important component of multiparametric magnetic resonance imaging (mpMRI). We compared performance of DWI for detection of prostate cancer (PCa) in peripheral zone (PZ) and transition zone (TZ) of prostate. MATERIALS AND METHODS: We reviewed data of 460 subjects who underwent preoperative 3.0-Tesla mpMRI and subsequently radical prostatectomy. Level of suspicion for PCa was graded using 5-grade Likert-scale from DWI...
2018: PloS One
https://www.readbyqxmd.com/read/29933350/psychodiagnostics-classification-of-the-yips-phenomenon-based-on-musician-s-dystonia
#5
Christos I Ioannou, Martin K Klämpfl, Babett H Lobinger, Markus Raab, Eckart Altenmüller
PURPOSE: Similar to musician's focal dystonia a task-specific phenomenon, known as yips has also been reported in professional athletes. Yips is usually described as focal dystonia, or choking under pressure, or as lying on a continuum between both. Based on the common occupational conditions across musicians and athletes, the present exploratory study aimed to investigate whether musicians diagnosed with focal dystonia and golfers affected with yips, can be similarly sub-classified based on their psychological profiles...
June 21, 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29933288/diagnostic-criteria-and-treatment-algorithm-for-susac-syndrome
#6
Robert A Egan
BACKGROUND: Susac syndrome (SS) classically presents with the clinical triad of retinal artery occlusion, sensorineural hearing loss, and encephalopathy and the neuroimaging triad of white matter lesions, deep gray matter lesions, and leptomeningeal disease. However, patients can present with an incomplete clinical or neuroimaging triads making diagnosis difficult in certain situations. A standard treatment paradigm also is lacking in this illness. It is important for neuro-ophthalmologists to recognize clinical and radiographic findings that are pathognomonic for this syndrome and have a basic understanding of the available treatment options...
June 21, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29933275/incidence-of-venous-air-embolism-during-endoscopic-retrograde-cholangiopancreatography
#7
Lubana K Afreen, Ayesha S Bryant, Tetsuzo Nakayama, Timothy J Ness, Keith A Jones, Charity J Morgan, Charles M Wilcox, Mark C Phillips
BACKGROUND: Known complications of endoscopic retrograde cholangiopancreatography (ERCP) include pancreatitis, bleeding, duodenal perforation, and venous air embolism (VAE). The aim of this study was to determine the incidence of VAE during ERCP and be able to differentiate high-risk versus low-risk ERCP procedures. METHODS: This is a prospective cohort study consisting of patients who underwent ERCP and were monitored with a precordial Doppler ultrasound (PDU) for VAE...
June 20, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29933256/pediatric-baseline-patch-test-series-initial-findings-of-the-pediatric-contact-dermatitis-workgroup
#8
JiaDe Yu, Amber Reck Atwater, Bruce Brod, Jennifer K Chen, Sarah S Chisolm, David E Cohen, Salma de la Feld, Anthony A Gaspari, Kari Lyn Martin, Marjorie Montanez-Wiscovich, Michael Sheehan, Nanette Silverberg, Aida Lugo-Somolinos, Binod K Thakur, Kalman Watsky, Sharon E Jacob
BACKGROUND: Allergic contact dermatitis is a challenging diagnostic problem in children. Although epicutaneous patch testing is the diagnostic standard for confirmation of contact sensitization, it is less used in children by dermatologists treating children, pediatric dermatologists, and pediatricians, when compared with adult practitioners. OBJECTIVE: The aim of the study was to create and evaluate standardization of a pediatric patch test series for children older than 6 years...
June 21, 2018: Dermatitis
https://www.readbyqxmd.com/read/29933223/nano-biosensing-approaches-on-tuberculosis-defy-of-aptamers
#9
REVIEW
Behrouz Golichenari, Rahim Nosrati, Aref Farokhi-Fard, Khalil Abnous, Farzam Vaziri, Javad Behravan
Tuberculosis is a major global health problem caused by the bacterium Mycobacterium tuberculosis (Mtb) complex. According to WHO reports, 53 million TB patients died from 2000 to 2016. Therefore, early diagnosis of the disease is of great importance for global health care programs. The restrictions of traditional methods have encouraged the development of innovative methods for rapid, reliable, and cost-effective diagnosis of tuberculosis. In recent years, aptamer-based biosensors or aptasensors have drawn great attention to sensitive and accessible detection of tuberculosis...
June 11, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29933200/a-finite-element-analysis-of-diaphragmatic-hernia-repair-on-an-animal-model
#10
N de Cesare, C Trevisan, E Maghin, M Piccoli, P G Pavan
The diaphragm is a mammalian skeletal muscle that plays a fundamental role in the process of respiration. Alteration of its mechanical properties due to a diaphragmatic hernia contributes towards compromising its respiratory functions, leading to the need for surgical intervention to restore the physiological conditions by means of implants. This study aims to assess via numerical modeling biomechanical differences between a diaphragm in healthy conditions and a herniated diaphragm surgically repaired with a polymeric implant, in a mouse model...
June 15, 2018: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/29933173/leiomyomatosis-peritonealis-disseminata-a-case-report-of-recurrent-presentation-and-literature-review
#11
Luca Ferrario, Pietro Zerbi, Maria Rachele Angiolini, Alberto Agarossi, Eliana Riggio, Andrea Bondurri, Piergiorgio Danelli
INTRODUCTION: Leiomyomatosis peritonealis disseminata (LPD) is an uncommon disease featured by the presence of multiple nodules of smooth muscle cells scattered in the abdominal cavity. To date only about 150 cases have been reported in literature. We report a case of recurrent LPD after laparotomy. CASE PRESENTATION: In March 2016 a 36-year-old female, with a history of multiple previous laparoscopic myomectomies, consulted her gynaecologist complaining abdominal pain; a MRI was performed and reported multiple pelvic masses, subsequently excised during laparotomy...
June 18, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29933136/reliability-of-dsm-and-empirically-derived-prototype-diagnosis-for-mood-anxiety-and-personality-disorders
#12
Maayan Nagar, Drew Westen, Ora Nakash
BACKGROUND: Prominent psychiatric diagnostic systems such as the DSM-IV and ICD-10 have shown low reliability in clinical practice. An alternative approach to classification of psychiatric disorders is prototype matching. In the current study, we examined reliability of assessing mood, anxiety and personality disorders using a multi-method multi informant approach. More specifically, we examined diagnosis made by treating clinician and independent expert clinical interviewer, using three different diagnostic systems (DSM symptom count, DSM-IV prototype diagnosis and empirically derived prototype diagnosis)...
June 9, 2018: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29933097/safety-and-effectiveness-of-nurse-administered-propofol-sedation-in-outpatients-undergoing-gastrointestinal-endoscopy
#13
Masamichi Sato, Akira Horiuchi, Michio Tamaki, Yasuyuki Ichise, Masashi Kajiyama, Yuta Yamamoto, Naoki Tanaka
BACKGROUND & AIMS: Esophagogastroduodenoscopy (EGD) and colonoscopy are common outpatient gastrointestinal endoscopic procedures that frequently use sedation. We aimed to identify a protocol that combines safety with cost effectiveness. METHODS: We collected data from consecutive outpatients (20-98 years old) who underwent diagnostic EGD (n=117,661) or colonoscopy (n=32,550) with propofol sedation from January 2006 through December 2016. Propofol was administered by a nurse via bolus injection using an age-adjusted standard protocol, up to a total of 200 mg...
June 19, 2018: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29933078/multivalent-targeting-and-killing-of-her2-overexpressing-breast-carcinoma-cells-with-methotrexate-encapsulated-tetra-specific-non-overlapping-variable-domain-heavy-chain-anti-her2-antibody-peg-liposomes-in-vitro-proof-of-concept
#14
Shahryar Khoshtinat Nikkhoi, Fatemeh Rahbarizadeh, Davoud Ahmadvand, Seyed Moein Moghimi
The variable domain of the heavy chain antibodies (VHHs) is the smallest (15 kDa) intact single domain antigen-binding fragment. VHHs often exhibit sub-nanomolar affinity for their designated targets and therefore are receiving increasing attention in molecular targeting and nanomedicine engineering. We cloned and expressed four non-overlapping anti-HER2 VHHs in a prokaryotic expression system that yielded periplasmic expression of disulfide-bonded VHHs. Purified VHHs, before and after thiolation, were characterized by Western blot and their functionality against the ecto-domain of HER2 receptor was confirmed by ELISA and flow cytometry...
June 19, 2018: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29933069/outcomes-of-measurable-residual-disease-in-pediatric-acute-myeloid-leukemia-pre-and-post-hematopoietic-stem-cell-transplant-validation-of-difference-from-normal-flow-cytometry-with-chimerism-studies-and-wilms-tumor-1-gene-expression
#15
David A Jacobsohn, Michael R Loken, Mingwei Fei, Alexia Adams, Lisa Eidenschink Brodersen, Brent R Logan, Kwang Woo Ahn, Bronwen E Shaw, Morris Kletzel, Marie Olszewski, Sana Khan, Soheil Meshinchi, Amy Keating, Andrew Harris, Pierre Teira, Reggie E Duerst, Steven P Margossian, Paul L Martin, Aleksandra Petrovic, Christopher C Dvorak, Eneida R Nemecek, Michael W Boyer, Allen R Chen, Jeffrey H Davis, Shalini Shenoy, Sureyya Savasan, Michelle P Hudspeth, Roberta H Adams, Victor A Lewis, Albert Kheradpour, Kimberly A Kasow, Alfred P Gillio, Ann E Haight, Monica Bhatia, Barbara J Bambach, Hilary L Haines, Troy C Quigg, Robert J Greiner, Julie-An Talano, David C Delgado, Alexandra Cheerva, Madhu Gowda, Sanjay Ahuja, Mehmet Ozkaynak, David Mitchell, Kirk R Schultz, Terry J Fry, David M Loeb, Michael A Pulsipher
We enrolled 150 patients in a prospective multi-center study of children with acute myeloid leukemia undergoing hematopoietic stem cell transplant (HSCT) comparing detection of measurable residual (MRD) disease by a "Difference from Normal" flow cytometry (ΔN) approach with assessment of Wilms tumor 1 (WT-1) gene expression without access to the diagnostic specimen. Prospective analysis of the specimens using this approach showed that 23% of patients being screened for HSCT had detectable residual disease by ΔN (0...
June 19, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29933043/detection-of-immune-complexes-and-evaluation-of-alcoholic-individuals-serological-profile-in-the-diagnosis-of-strongyloidiasis
#16
Alana A S Gonçalves, Camila A de Lopes, Henrique T Gonzaga, Ana Lúcia R Gonçalves, Marcelo A Levenhagen, Luiz Carlos M de Oliveira, Julia M Costa-Cruz
Strongyloidiasis is a human parasitosis that is considered a public health problem. Early diagnosis of this infection is extremely important in immunocompromised patients (i.e. subjects with alcoholism). This study aimed to evaluate anti-Strongyloides immunoglobulin G (IgG) and immunoglobulin A (IgA), assess levels of circulating immune complexes (IC) and determine IgG avidity in serum samples from alcoholic and nonalcoholic individuals. A total of 140 blood samples were collected from male individuals (70 alcoholic and 70 nonalcoholic subjects)...
June 19, 2018: Parasitology International
https://www.readbyqxmd.com/read/29932929/development-and-evaluation-of-the-first-immunochromatographic-test-that-can-detect-specific-antibodies-against-cryptosporidium-parvum
#17
Ragab M Fereig, Hanan H Abdelbaky, Fumiaki Ihara, Yoshifumi Nishikawa
Cryptosporidium parvum is a major cause of diarrhea among human and calves, resulting in severe health hazards and drastic economic losses, respectively. Although C. parvum infection leads to high morbidity and mortality in immunocompromised patients and bovine calves, this infection remains a neglected disease. Currently available diagnostic tests for C. parvum are primarily based on detection of oocysts, DNA, or secreted antigens in fecal specimens. Demonstration of specific antibodies with a rapid immunochromatographic test (ICT) will be advantageous not only in providing a simple, rapid, accurate, and affordable tool but also in surveillance because of the ability to recognize recent and past infections...
June 19, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29932889/brucellosis-after-cardiac-transplantation
#18
Vinitha V Nair, Murali Appukuttan, Kiran Vishnu Narayan, Jayakumar Thanathu Krishnan Nair
Brucellosis is being increasingly recognized after solid organ transplantation but has not been reported after orthotopic heart transplantation. We present the case of a 51-year-old farmer who underwent orthotopic heart transplantation and was readmitted after 3 months in a severely immunosuppressed state with significant nonspecific complaints. He posed a diagnostic and management dilemma to all disciplines, but finally turned out to be harbouring Brucella infection. He responded well to medical management and was discharged in a stable clinical status...
June 19, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29932873/validity-of-clinical-small-fiber-sensory-testing-to-detect-small-nerve-fiber-degeneration
#19
Colette Ridehalgh, Oliver P Sandy-Hindmarch, Aninna B Schmid
Study Design Prospective, cross-sectional diagnostic accuracy study. Background Small nerve fiber degeneration (SFD) commonly occurs in patients with peripheral neuropathies, resulting in deterioration in nerve function. Currently, the gold standard to identify SFD is through skin biopsies. Simple clinical tests aim to identify SFD, but their validity remains unknown. Objectives To examine the validity of clinical tests to assess SFD using carpal tunnel syndrome (CTS) as a model system. Methods 107 participants (22 healthy, 85 with CTS) underwent pinprick testing over the index finger, and had cold and warm detection thresholds taken (CDT, WDT) using quantitative sensory testing (QST)...
June 22, 2018: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/29932871/reliability-of-mechanical-diagnosis-and-therapy-system-in-patients-with-spinal-pain-a-systematic-review
#20
Alessandra Narciso Garcia, Lucíola da Cunha Menezes Costa, Fabrício Soares de Souza, Matheus Oliveira de Almeida, Amanda Costa Araujo, Mark Hancock, Leonardo Oliveira Pena Costa
Study Design Systematic review. Background An updated summary of the evidence for the reliability of Mechanical Diagnosis and Therapy (MDT) System in patients with spinal pain is needed. Objective To investigate the evidence on the intra and inter-rater reliability of MDT system in patients with spinal pain. Methods Search strategies on MEDLINE, CINAHL, EMBASE, PEDro and Scopus were conducted. We included any study design as long as reliability of the MDT method was tested in patients with spinal pain. We collected data on the reliability of MDT to identify: main and sub-syndromes, directional preference, centralization phenomenon and lateral shift...
June 22, 2018: Journal of Orthopaedic and Sports Physical Therapy
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