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https://www.readbyqxmd.com/read/28732360/a-systematic-review-of-malignancy-associated-hemophagocytic-lymphohistiocytosis-that-needs-more-attentions
#1
REVIEW
Hongluan Wang, Lixia Xiong, Weiping Tang, Ying Zhou, Fei Li
As an infrequent but potentially life-threatening hyperinflammatory syndrome, hemophagocytic lymphohistiocytosis (HLH) is clinically characterized with prolonged fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. Malignancy-associated HLH (M-HLH), one type of acquired HLH, usually presents variable overlaps of symptoms with other types of HLH, thus resulting in higher incidence of misdiagnosis and mortality. In recent years, with the increasing awareness to this disease, the diagnosis and management of HLH have gained more and more attention, and improvements have been made accordingly...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732357/profiling-cancer-related-gene-mutations-in-oral-squamous-cell-carcinoma-from-japanese-patients-by-targeted-amplicon-sequencing
#2
Takafumi Nakagaki, Miyuki Tamura, Kenta Kobashi, Ryota Koyama, Hisayo Fukushima, Tomoko Ohashi, Masashi Idogawa, Kazuhiro Ogi, Hiroyoshi Hiratsuka, Takashi Tokino, Yasushi Sasaki
Somatic mutation analysis is a standard practice in the study of human cancers to identify mutations that cause therapeutic sensitization and resistance. We performed comprehensive genomic analyses that used PCR target enrichment and next-generation sequencing on Ion Proton semiconductor sequencers. Forty-seven oral squamous cell carcinoma (OSCC) samples and their corresponding noncancerous tissues were used for multiplex PCR amplification to obtain targeted coverage of the entire coding regions of 409 cancer-related genes (covered regions: 95...
July 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732242/the-depression-and-marital-status-relationship-is-modified-by-both-age-and-gender
#3
Andrew G M Bulloch, Jeanne V A Williams, Dina H Lavorato, Scott B Patten
BACKGROUND: Marital status is associated with major depression prevalence, however, the strength of association may be modified by age and gender. METHODS: The data sources were a series of cross sectional national health surveys of the Canadian population carried out by Statistics Canada during 1996-2013. These were cross-sectional files from the National Population Health Survey of 1996, together with the Canadian Community Health Surveys from 2000 to 2013; the respondents were 18 years and older...
July 4, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28732234/computational-modelling-of-genome-scale-metabolic-networks-and-its-application-to-cho-cell-cultures
#4
REVIEW
Živa Rejc, Lidija Magdevska, Tilen Tršelič, Timotej Osolin, Rok Vodopivec, Jakob Mraz, Eva Pavliha, Nikolaj Zimic, Tanja Cvitanović, Damjana Rozman, Miha Moškon, Miha Mraz
Genome-scale metabolic models (GEMs) have become increasingly important in recent years. Currently, GEMs are the most accurate in silico representation of the genotype-phenotype link. They allow us to study complex networks from the systems perspective. Their application may drastically reduce the amount of experimental and clinical work, improve diagnostic tools and increase our understanding of complex biological phenomena. GEMs have also demonstrated high potential for the optimisation of bio-based production of recombinant proteins...
July 8, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28732212/ualcan-a-portal-for-facilitating-tumor-subgroup-gene-expression-and-survival-analyses
#5
Darshan S Chandrashekar, Bhuwan Bashel, Sai Akshaya Hodigere Balasubramanya, Chad J Creighton, Israel Ponce-Rodriguez, Balabhadrapatruni V S K Chakravarthi, Sooryanarayana Varambally
Genomics data from The Cancer Genome Atlas (TCGA) project has led to the comprehensive molecular characterization of multiple cancer types. The large sample numbers in TCGA offer an excellent opportunity to address questions associated with tumo heterogeneity. Exploration of the data by cancer researchers and clinicians is imperative to unearth novel therapeutic/diagnostic biomarkers. Various computational tools have been developed to aid researchers in carrying out specific TCGA data analyses; however there is need for resources to facilitate the study of gene expression variations and survival associations across tumors...
July 18, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28732176/a-comprehensive-craniofacial-study-of-22q11-2-deletion-syndrome
#6
A Lewyllie, J Roosenboom, K Indencleef, P Claes, A Swillen, K Devriendt, C Carels, M Cadenas De Llano-Pérula, G Willems, G Hens, A Verdonck
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected individuals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans, 2-dimensional (2D) clinical photographs, panoramic and cephalometric radiographs, and dental casts...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28732098/variability-of-the-pressure-measurements-exerted-by-the-tip-of-laryngoscope-during-laryngeal-sensory-testing-a-clinical-demonstration
#7
Asako Kaneoka, Jessica M Pisegna, Gintas P Krisciunas, Takaharu Nito, Michael P LaValley, Cara E Stepp, Susan E Langmore
Purpose: Clinicians often test laryngeal sensation by touching the laryngeal mucosa with the tip of a flexible laryngoscope. However, the pressure applied to the larynx by using this touch method is unknown, and the expected responses elicited by this method are uncertain. The variability in pressure delivered by clinicians using the touch method was investigated, and the subject responses to the touches were also reported. Methods: A fiberoptic pressure sensor passed through the working channel of a laryngoscope, with its tip positioned at the distal port of the channel...
July 21, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28732038/analysis-of-patient-data-from-laboratories-during-the-ebola-virus-disease-outbreak-in-liberia-april-2014-to-march-2015
#8
Yuki Furuse, Mosoka Fallah, Hitoshi Oshitani, Ling Kituyi, Nuha Mahmoud, Emmanuel Musa, Alex Gasasira, Tolbert Nyenswah, Bernice Dahn, Luke Bawo
An outbreak of Ebola virus disease (EVD) in Liberia began in March 2014 and ended in January 2016. Epidemiological information on the EVD cases was collected and managed nationally; however, collection and management of the data were challenging at the time because surveillance and reporting systems malfunctioned during the outbreak. EVD diagnostic laboratories, however, were able to register basic demographic and clinical information of patients more systematically. Here we present data on 16,370 laboratory samples that were tested between April 4, 2014 and March 29, 2015...
July 21, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28731990/-performance-of-asge-predictive-criteria-in-diagnosis-of-choledocholithiasis-in-the-edgardo-rebagliati-martins-hospital
#9
Harold Eduardo Benites Goñi, Fernando Vicente Palacios Salas, Jairo Luis Asencios Cusihuallpa, Rossmery Aguilar Morocco, Nasthya Solange Segovia Valle
BACKGROUND: In Peru, there are still no local studies designed for evaluating the performance of clinical guidelines designed to stratify patients according to probability of choledocholithiasis. OBJECTIVES: To evaluate the performance of predictive criteria proposed by the American Society for Gastrointestinal Endoscopy (ASGE) in diagnosis of choledocholithiasis. MATERIALS AND METHODS: A retrospective cohort study conducted in a hospital in Lima (Rebagliati hospital)...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28731911/expert-and-self-assessment-of-lifetime-symptoms-and-diagnosis-of-major-depressive-disorder-in-large-scale-genetic-studies-in-the-general-population-comparison-of-a-clinical-interview-and-a-self-administered-checklist
#10
Jessica Martin, Fabian Streit, Jens Treutlein, Maren Lang, Josef Frank, Andreas J Forstner, Franziska Degenhardt, Stephanie H Witt, Thomas G Schulze, Sven Cichon, Markus M Nöthen, Marcella Rietschel, Jana Strohmaier
Major depression disorder (MDD) is a complex neuropsychiatric disorder and an increasing number of genetic risk variants are being identified. Investigation of their influence in the general population requires accurate and efficient assessment of depressive symptoms. Here, clinical interviews conducted by clinicians are the gold standard. We investigated whether valid and reliable clinical phenotypes can be obtained efficiently using self-administered instruments. Lifetime depressive symptoms and lifetime MDD diagnosis were assessed in 464 population-based individuals using a clinical interview and a structured, self-administered checklist...
July 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28731672/-urticaria-pigmentosa-clinical-and-therapeutic-aspects-for-the-paediatrician
#11
Catherina Moll-Manzur, Esteban Araos-Baeriswyl, Camila Downey, María T Dossi
Urticaria pigmentosa, also known as maculopapular mastocytosis, is the most common type of paediatric mastocytosis. It presents with yellow to brown macules or papules, usually located on trunk and extremities. Regarding its diagnostic and therapeutic implications, the objective of this article is to serve as an update for the paediatrician on the most relevant aspects of this pathology.
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731663/-pulmonary-actinomycosis-and-tuberculosis-a-comorbidity-pediatric-case
#12
Elsa D Bisero, Graciela F Luque, Cristina N Rizzo, Alejandra E Zapata, María S Cuello
Actinomycosis is a chronic suppurative infection, produced by anaerobic Gram-positive bacteria or microaerobic Actinomyces species. It is rare in children and adolescents and it is more common in immunocompromised. Mycobacterium tuberculosis collaborates on the development of the disease. Pulmonary involvement appears as a picture of chronic condensation that does not improve with conventional antibiotic treatment. Classic complications affecting the thoracic wallwith drainage in «sulfur granule» and fistulization are described less frequently nowadays...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731661/-melkersson-rosenthal-syndrome-report-of-two-pediatric-cases
#13
Lucas Bordino, Mariana L Juchli, Marcelo Fernández, María de Los Ángeles Fitz Maurice, Andrea Martins, Zaida E Ramírez, Roxana Spini
Melkersson Rosenthal syndrome is a very infrequent disease of unknown etiology, chronic and progressive course, with neurocutaneous disease that affects the orofacial innervation and mucocutaneous tissues with non-caseating granulomatous infiltration. Clinically, it is characterized by the diagnostic triad: recurrent edema of lips and/or face; recurrent and alternating acute peripheral facial paralysis and scrotal or geographic tongue. The condition generally presents as oligosymptomatic or monosymptomatic form...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731508/a-re-examination-of-montreal-cognitive-assessment-moca-cutoff-scores
#14
Nicole Carson, Larry Leach, Kelly J Murphy
OBJECTIVE: The Montreal Cognitive Assessment (MoCA; Nasreddine et al., 2005) is a cognitive screening tool that aims to differentiate healthy cognitive aging from Mild Cognitive Impairment (MCI). Several validation studies have been conducted on the MoCA, in a variety of clinical populations. Some studies have indicated that the originally suggested cutoff score of 26/30 leads to an inflated rate of false positives, particularly for those of older age and/or lower education. We conducted a systematic review and meta-analysis of the literature to determine the diagnostic accuracy of the MoCA for differentiating healthy cognitive aging from possible MCI...
July 21, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28731402/twenty-four-hour-emergency-intervention-versus-early-intervention-in-aneurysmal-subarachnoid-hemorrhage
#15
Joseph R Linzey, Craig Williamson, Venkatakrishna Rajajee, Kyle Sheehan, B Gregory Thompson, Aditya S Pandey
OBJECTIVE Recent observational data suggest that ultra-early treatment of ruptured aneurysms prevents rebleeding, thus improving clinical outcomes. However, advances in critical care management of patients with ruptured aneurysms may reduce the rate of rebleeding in comparison with earlier trials, such as the International Cooperative Study on the Timing of Aneurysm Surgery. The objective of the present study was to determine if an ultra-early aneurysm repair protocol will or will not significantly reduce the number of incidents of rebleeding following aneurysmal subarachnoid hemorrhage (SAH)...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28731391/malpractice-litigation-following-spine-surgery
#16
Alan H Daniels, Roy Ruttiman, Adam E M Eltorai, J Mason DePasse, Bielinsky A Brea, Mark A Palumbo
OBJECTIVE Adverse events related to spine surgery sometimes lead to litigation. Few studies have evaluated the association between spine surgical complications and medical malpractice proceedings, outcomes, and awards. The aim of this study was to identify the most frequent causes of alleged malpractice in spine surgery and to gain insight into patient demographic and clinical characteristics associated with medical negligence litigation. METHODS A search for "spine surgery" spanning February 1988 to May 2015 was conducted utilizing the medicolegal research service VerdictSearch (ALM Media Properties, LLC)...
July 21, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28731215/hypophosphatasia-in-adults-clinical-assessment-and-treatment-considerations
#17
Jay R Shapiro, E Michael Lewiecki
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500-600 known individuals in the US. HPP is due to mutations involving the gene for tissue non-specific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures...
July 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28730968/modulation-of-the-immune-system-for-the-treatment-of-glaucoma
#18
Katharina Bell, Nadine von Thun Und Hohenstein-Blaul, Julia Teister, Franz H Grus
At present intraocular pressure (IOP) lowering therapies are the only approach to treat glaucoma. Neuroprotective strategies to protect the retinal ganglion cells (RGC) from apoptosis are lacking to date. Results from clinical studies revealed altered immunoreactivities against retinal and optic nerve antigens in sera and aqueous humor of glaucoma patients and point toward an autoimmune involvement in glaucomatous neurodegeneration and RGC death. IgG accumulations along with plasma cells were found localised in human glaucomatous retinae in a pro-inflammatory environment possibly maintained by microglia...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28730872/a-dual-label-time-resolved-fluorescence-immunoassay-for-the-simultaneous-determination-of-cystatin-c-and-%C3%AE-2-microglobulin-in-urine
#19
Y Liu, Y H Liu, W J Bei, K Wang, T T Cui, H L Li, D X Wu, S Q Chen, N Tan, J Y Chen
BACKGROUND: Contrast media is widely used in clinical diagnostic and interventional procedures, but may cause damage to the kidney, that is, contrast-induced nephropathy. This study was to establish a dual-label time-resolved fluorescence immunoassay (TRFIA) for the simultaneous determination of renal function markers cystatin-C (Cys-C) and β2-microglobulin (β2-MG) for the early diagnosis and follow-up surveillance of contrast-induced nephropathy. METHODS: A sandwich immunoassay was used to detect the concentration of Cys-C, and the competitive immunoassay was used to detect the concentration of β2-MG in 50 samples of urine...
July 21, 2017: British Journal of Biomedical Science
https://www.readbyqxmd.com/read/28730853/dengue-in-the-elderly-a-review
#20
Ray Junhao Lin, Tau Hong Lee, Yee Sin Leo
Changing dengue epidemiological trends have resulted in a shift in the disease burden to the adult population. Older adults suffer from poorer outcomes as compared to their younger counterparts, making clinical management of this sub-population particularly challenging. Areas covered: We present a review of the current literature on the changing epidemiology of dengue in the elderly, the atypical features of the clinical disease in this population with emphasis on severe disease presentations and challenges in the current management strategies...
July 21, 2017: Expert Review of Anti-infective Therapy
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