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https://www.readbyqxmd.com/read/28817827/role-of-next-generation-sequencing-as-a-diagnostic-tool-for-the-evaluation-of-bone-and-soft-tissue-tumors
#1
Kinga Szurian, Karl Kashofer, Bernadette Liegl-Atzwanger
Bone and soft-tissue tumors are in general rare. Diagnosing these tumors is challenging based on the significant number of different tumor entities, the rareness of these tumors, and the considerable morphological heterogeneity which can be found within a single tumor entity. Considering that more than half of the described soft-tissue tumors and approximately 25% of the bone tumors harbor recurrent genetic alterations, the use of auxiliary molecular examinations should be strongly considered. Molecular analyses are important to confirm the diagnosis, to guide treatment, to provide information about prognosis, and to allow patient recruitment for basket trials based on the molecular signature of a tumor...
August 18, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28817765/preventive-effects-of-lamotrigine-in-bipolar-ii-versus-bipolar-i-disorder
#2
Takeshi Terao, Atsuko Ishida, Toshifumi Kimura, Masao Yarita, Terufumi Hara
OBJECTIVE: The preventive effects of mood stabilizers on recurrence/relapse in bipolar disorders have been investigated mostly in bipolar I disorder (BPI) patients, with limited reports on bipolar II disorder (BPII) patients. Here, we conducted an explorative data analysis to investigate whether the preventive effect of lamotrigine on recurrence /relapse in BPII is better than in BPI. METHODS: Data from Japanese patients with a diagnosis of BPI or BPII according to DSM-IV-TR were analyzed in an open-label, noninterventional, naturalistic, prospective postmarketing surveillance study of lamotrigine...
August 15, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28817682/experimental-study-of-tuberculosis-from-animal-models-to-complex-cell-systems-and-organoids
#3
REVIEW
Kaori L Fonseca, Pedro N S Rodrigues, I Anna S Olsson, Margarida Saraiva
Tuberculosis (TB) is a devastating disease to mankind that has killed more people than any other infectious disease. Despite many efforts and successes from the scientific and health communities, the prospect of TB elimination remains distant. On the one hand, sustainable public health programs with affordable and broad implementation of anti-TB measures are needed. On the other hand, achieving TB elimination requires critical advances in three areas: vaccination, diagnosis, and treatment. It is also well accepted that succeeding in advancing these areas requires a deeper knowledge of host-pathogen interactions during infection, and for that, better experimental models are needed...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28817680/human-alpha-defensin-5-is-a-candidate-biomarker-to-delineate-inflammatory-bowel-disease
#4
Amanda D Williams, Olga Y Korolkova, Amos M Sakwe, Timothy M Geiger, Samuel D James, Roberta L Muldoon, Alan J Herline, J Shawn Goodwin, Michael G Izban, Mary K Washington, Duane T Smoot, Billy R Ballard, Maria Gazouli, Amosy E M'Koma
Inability to distinguish Crohn's colitis from ulcerative colitis leads to the diagnosis of indeterminate colitis. This greatly effects medical and surgical care of the patient because treatments for the two diseases vary. Approximately 30 percent of inflammatory bowel disease patients cannot be accurately diagnosed, increasing their risk of inappropriate treatment. We sought to determine whether transcriptomic patterns could be used to develop diagnostic biomarker(s) to delineate inflammatory bowel disease more accurately...
2017: PloS One
https://www.readbyqxmd.com/read/28817675/deaths-during-tuberculosis-treatment-among-paediatric-patients-in-a-large-tertiary-hospital-in-nigeria
#5
Aishatu L Adamu, Muktar H Aliyu, Najiba Aliyu Galadanci, Baba Maiyaki Musa, Muktar A Gadanya, Auwalu U Gajida, Taiwo G Amole, Imam W Bello, Safiya Gambo, Ibrahim Abubakar
BACKGROUND: Despite availability of effective cure, tuberculosis (TB) remains a leading cause of death in children. In many high-burden countries, childhood TB is underdiagnosed and underreported, and care is often accessed too late, resulting in adverse treatment outcomes. In this study, we examined the time to death and its associated factors among a cohort of children that commenced TB treatment in a large treatment centre in northern Nigeria. METHODS: This is a retrospective cohort study of children that started TB treatment between 2010 and 2014...
2017: PloS One
https://www.readbyqxmd.com/read/28817650/snorna-and-pirna-expression-levels-modified-by-tobacco-use-in-women-with-lung-adenocarcinoma
#6
Natasha Andressa Nogueira Jorge, Gabriel Wajnberg, Carlos Gil Ferreira, Benilton de Sa Carvalho, Fabio Passetti
Lung cancer is one of the most frequent types of cancer worldwide. Most patients are diagnosed at advanced stage and thus have poor prognosis. Smoking is a risk factor for lung cancer, however most smokers do not develop lung cancer while 20% of women with lung adenocarcinoma are non-smokers. Therefore, it is possible that these two groups present differences besides the smoking status, including differences in their gene expression signature. The altered expression patterns of non-coding RNAs in complex diseases make them potential biomarkers for diagnosis and treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28817585/selecting-targets-for-the-diagnosis-of-schistosoma-mansoni-infection-an-integrative-approach-using-multi-omic-and-immunoinformatics-data
#7
Gardenia B F Carvalho, Daniela M Resende, Liliane M V Siqueira, Marcelo D Lopes, Débora O Lopes, Paulo Marcos Z Coelho, Andréa Teixeira-Carvalho, Jeronimo C Ruiz, Cristina T Fonseca
In order to effectively control and monitor schistosomiasis, new diagnostic methods are essential. Taking advantage of computational approaches provided by immunoinformatics and considering the availability of Schistosoma mansoni predicted proteome information, candidate antigens of schistosomiasis were selected and used in immunodiagnosis tests based on Enzime-linked Immunosorbent Assay (ELISA). The computational selection strategy was based on signal peptide prediction; low similarity to human proteins; B- and T-cell epitope prediction; location and expression in different parasite life stages within definitive host...
2017: PloS One
https://www.readbyqxmd.com/read/28817465/new-insights-into-the-recognition-classification-and-management-of-systemic-sclerosis-associated-pulmonary-hypertension
#8
Christopher J Mullin, Stephen C Mathai
PURPOSE OF REVIEW: Pulmonary hypertension is a common complication of systemic sclerosis (SSc), and remains a leading cause of morbidity and mortality. We will review recent developments in the recognition, classification and treatment of pulmonary hypertension in SSc. RECENT FINDINGS: Advances in screening for pulmonary arterial hypertension (PAH) and use of exercise haemodynamics may help to identify pulmonary vascular disease earlier in SSc. Recent studies have led to changes in recommendations for adjunct therapy and selection of pulmonary vasodilators for the treatment of SSc-associated PAH...
August 16, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28817451/relative-temperature-maximum-in-wound-infection-and-inflammation-as-compared-with-a-control-subject-using-long-wave-infrared-thermography
#9
Arjun Chanmugam, Diane Langemo, Korissa Thomason, Jaimee Haan, Elizabeth A Altenburger, Aletha Tippett, Linda Henderson, Todd A Zortman
OBJECTIVE: The purpose of this retrospective case series was to determine whether a long-wave infrared thermography (LWIT, or thermal imaging) camera can detect specific temperature changes that are associated with wound infection and inflammation as compared with normal control subjects with similar anatomical wound locations. DESIGN: A retrospective, observational, collective, multiple case series of patients who underwent digital and thermal imaging of wounds in various states...
September 2017: Advances in Skin & Wound Care
https://www.readbyqxmd.com/read/28817385/novel-molecular-defects-associated-with-very-early-onset-inflammatory-bowel
#10
Sara Ciullini Mannurita, Eleonora Gambineri
PURPOSE OF REVIEW: Immune dysregulation disorders present with common clinical features of multiorgan autoimmunity. Gastrointestinal involvement is the hallmark of an impaired immune homeostasis. This review will give an overview on the novel phenotypes, highlighting the major points that will help to enable early diagnosis and treatment. RECENT FINDINGS: The rapid progress on DNA sequencing technologies have led to the identification of monogenic defects that adversely impact the control of immune homeostasis...
August 16, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28817367/nutrition-implications-for-long-term-survivors-of-pancreatic-cancer-surgery
#11
Maria Q B Petzel, Leah Hoffman
With slowly increasing survival rates in pancreatic cancer and international consensus guidelines recommending surgical resection of premalignant lesions, survival post-pancreatic resection is increasing. With longer survival time, the significant comorbidities of such major surgery have far-reaching effects on the nutrition status of the survivor of pancreatic cancer. This review describes the many nutrition-related side effects of pancreatic surgery, including the development of pancreatic enzyme insufficiency, micronutrient deficiencies, diabetes, fatty liver, and metabolic bone disease...
August 1, 2017: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/28817315/experience-of-menopause-in-women-with-inflammatory-bowel-disease-pilot-study
#12
E Kaley Donaldson, V Huang, S Ross, B C Sydora
OBJECTIVE: Inflammatory bowel diseases (IBD) are debilitating chronic intestinal diseases requiring extensive medical intervention. Little is known how IBD symptoms and treatments affect menopause experience and quality of life. The study's goal was to investigate the relationship between IBD and menopause. METHOD: Women with IBD, between the ages of 30 and 65 years, were recruited from an outpatient IBD clinic. They completed surveys on obstetric, medical, and IBD history and clinical disease activity...
August 17, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28817227/patterns-of-glycaemic-control-in-patients-with-type-2-diabetes-mellitus-initiating-second-line-therapy-after-metformin-monotherapy-retrospective-data-for-10-256-individuals-from-the-united-kingdom-and-germany
#13
Kamlesh Khunti, Thomas R Godec, Jesús Medina, Laura Garcia-Alvarez, Josh Hiller, Marilia B Gomes, Javier Cid-Ruzafa, Bernard Charbonnel, Peter Fenici, Niklas Hammar, Kiyoshi Hashigami, Mikhail Kosiborod, Antonio Nicolucci, Marina V Shestakova, Linong Ji, Stuart Pocock
AIM: To investigate determinants of change in glycated haemoglobin (HbA1c) in patients with type 2 diabetes mellitus (T2DM) at 6 months after initiating uninterrupted second-line glucose-lowering therapies. MATERIALS AND METHODS: This cohort study utilized retrospective data from 10 256 patients with T2DM who initiated second-line glucose-lowering therapy (switch from or add-on to metformin) between 2011 and 2014 in Germany and the UK. Effects of pre-specified patient characteristics on 6-month HbA1c changes were assessed using analysis of covariance...
August 17, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28817188/changes-in-standardized-mortality-rates-from-thyroid-cancer-in-korea-between-1985-and-2015-analysis-of-korean-national-data
#14
Yun Mi Choi, Won Gu Kim, Hyemi Kwon, Min Ji Jeon, Minkyu Han, Tae Yong Kim, Young Kee Shong, Sang Mo Hong, Eun-Gyoung Hong, Won Bae Kim
BACKGROUND: The incidence of thyroid cancer has increased very rapidly in Korea; however, most previous studies suggested that the mortality rate for thyroid cancer remained stable. The objective of the current study was to evaluate recent changes in standardized thyroid cancer mortality using data from Statistics Korea. METHODS: Population and mortality data from 1985 through 2015 were obtained from Statistics Korea. Age-standardized mortality rates (ASMRs) from thyroid cancer per 100,000 population were calculated based on the World Health Organization standard population...
August 17, 2017: Cancer
https://www.readbyqxmd.com/read/28817183/combined-high-intensity-local-treatment-and-systemic-therapy-in-metastatic-head-and-neck-squamous-cell-carcinoma-an-analysis-of-the-national-cancer-data-base
#15
Zachary S Zumsteg, Michael Luu, Emi J Yoshida, Sungjin Kim, Mourad Tighiouart, John M David, Stephen L Shiao, Alain C Mita, Kevin S Scher, Eric J Sherman, Nancy Y Lee, Allen S Ho
BACKGROUND: There is increasing evidence that primary tumor ablation can improve survival for some cancer patients with distant metastases. This may be particularly applicable to head and neck squamous cell carcinoma (HNSCC) because of its tropism for locoregional progression. METHODS: This study included patients with metastatic HNSCC undergoing systemic therapy identified in the National Cancer Data Base. High-intensity local treatment was defined as radiation doses ≥ 60 Gy or oncologic resection of the primary tumor...
August 17, 2017: Cancer
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#16
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28817065/evaluation-and-treatment-of-mild-traumatic-brain-injury-the-role-of-neuropsychology
#17
REVIEW
Carolyn Prince, Maya E Bruhns
Awareness of mild traumatic brain injury (mTBI) and persisting post-concussive syndrome (PCS) has increased substantially in the past few decades, with a corresponding increase in research on diagnosis, management, and treatment of patients with mTBI. The purpose of this article is to provide a narrative review of the current literature on behavioral assessment and management of patients presenting with mTBI/PCS, and to detail the potential role of neuropsychologists and rehabilitation psychologists in interdisciplinary care for this population during the acute, subacute, and chronic phases of recovery...
August 17, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28816943/spinal-cord-compression-syndrome-caused-by-intraspinal-epidural-fibrous-cord-three-case-reports
#18
Yingjie Zhou, Xubin Chai, Huailiang Zheng, Renqian Song, Xiaofei Qin
RATIONALE: The spinal cord compression caused by intraspinal epidural fibrous cord. PATIENT CONCERNS: All patients in this study had spinal cord compression syndrome caused by an intraspinal epidural fibrous cord, manifested as abnormally increased epidural adipose tissue by imaging. DIAGNOSE: These abnormal fibrous connective tissue strips were not identical to the known pathological tissue such as "meningovertebral ligament." Instead, it might be a novel pathogenic cause for the spinal cord compression...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#19
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816932/postmenopausal-choriocarcinoma-a-rare-case-report-and-review-of-the-literature
#20
Na Guo, Rutie Yin, Qingli Li, Liang Song, Danqing Wang
OBJECTIVE: Choriocarcinoma is rare in postmenopausal women, and an early diagnosis contributes to a potential cure. METHODS: We report a rare case of a postmenopausal woman with choriocarcinoma. The 61-year-old patient presented with irregular vaginal bleeding, 11 years after menopause and 30 years after the birth of the last child. RESULTS: Radiological investigation found a 3-cm mass on the lower left part of the vaginal wall, and also bilateral lung nodules...
August 14, 2017: Menopause: the Journal of the North American Menopause Society
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