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https://www.readbyqxmd.com/read/28102961/assessing-the-use-of-4dct-ventilation-in-pre-operative-surgical-lung-cancer-evaluation
#1
Yevgeniy Vinogradskiy, Matthew Jackson, Leah Schubert, Bernard Jones, Richard Castillo, Edward Castillo, Thomas Guerrero, John Mitchell, Chad Rusthoven, Moyed Miften, Brian Kavanagh
PURPOSE: A primary treatment option for lung cancer patients is surgical resection. Patients who have poor lung function prior to surgery are at increased risk of developing serious and life-threatening complications after surgical resection. Surgeons use nuclear medicine ventilation-perfusion (VQ) scans along with pulmonary function test (PFT) information to assess a patient's pre-surgical lung function. The nuclear medicine images and pre-surgery PFTs are used to calculate percent predicted postoperative (%PPO) PFT values by estimating the amount of functioning lung tissue that would be lost with surgical resection...
January 2017: Medical Physics
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#2
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102863/a-taxonomy-of-medical-uncertainties-in-clinical-genome-sequencing
#3
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, Robert C Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B Waterston, Leslie G Biesecker, Barbara B Biesecker
PURPOSE: Clinical next-generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of an unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. METHODS: Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts and themes were extracted in order to expand on a previously published three-dimensional taxonomy of medical uncertainty...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#4
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#5
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#6
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#7
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#8
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28101623/-102-patients-with-suspected-myocarditis-clinical-presentation-diagnostics-therapy-and-prognosis
#9
S Streuber, F Noack, D Stoevesandt, A Schlitt
INTRODUCTION: Myocarditis is a disease which is difficult to diagnose and which includes a risk of the development of dilated cardiomyopathy and sudden cardiac death. METHODS AND PATIENTS: In this study 102 patients were included from the time period 2003-2013 after diagnosis or suspected diagnosis of myocarditis in the department of internal medicine at the University Hospital Halle (Saale). RESULTS: Of the study participants 77.5% were male and the average age was 35...
January 18, 2017: Herz
https://www.readbyqxmd.com/read/28101307/review-and-recommendations-on-management-of-adult-female-thalassemia-patients-with-hypogonadism-based-on-literature-review-and-experience-of-icet-a-network-specialists
#10
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Alice Albu, Soad Al Jaouni, Salvatore Anastasi, Maria Grazia Bisconte, Duran Canatan, Soteroula Christou, Shahina Daar, Salvatore Di Maio, Mohamed El Kholy, Doaa Khater, Mohamed Elshinawy, Yurdanur Kilinc, Roberto Mattei, Hala H Mosli, Alessandra Quota, Maria Grazia Roberti, Praveen Sobti, Saif Al Yaarubi, Saveria Canpisi, Christos Kattamis
BACKGROUND: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28101150/promising-effects-of-chinese-traditional-treatment-for-child-typhoid-complicated-by-myocarditis
#11
Jing Tian, Xinjiang An, Mingyu Fu, Qingwen Wang
The clinical effects were compared and analyzed of traditional Chinese medicine (TCM) 'Ling Gui Long Mu soup' combined with the conventional Western medications in treating child typhoid complicated by myocarditis. From July, 2010 to May, 2014, 54 children suffering from typhoid complicated by myocarditis were enrolled in the present study. The patients were divided into the observation and control groups (n=27 cases per group) according to the random number table. Patients in the observation group were treated with basic Western medicine combined with TCM 'Ling Gui Long Mu soup' while patients in the control group were treated only with Western medicine...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100559/what-is-involved-in-medicines-management-across-care-boundaries-a-qualitative-study-of-healthcare-practitioners-experiences-in-the-case-of-acute-kidney-injury
#12
Denham L Phipps, Rebecca L Morris, Tom Blakeman, Darren M Ashcroft
OBJECTIVES: To examine the role of individual and collective cognitive work in managing medicines for acute kidney injury (AKI), this being an example of a clinical scenario that crosses the boundaries of care organisations and specialties. DESIGN: Qualitative design, informed by a realist perspective and using semistructured interviews as the data source. The data were analysed using template analysis. SETTING: Primary, secondary and intermediate care in England...
January 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28100276/realising-stratified-psychiatry-using-multidimensional-signatures-and-trajectories
#13
Dan W Joyce, Angie A Kehagia, Derek K Tracy, Jessica Proctor, Sukhwinder S Shergill
BACKGROUND: Stratified or personalised medicine targets treatments for groups of individuals with a disorder based on individual heterogeneity and shared factors that influence the likelihood of response. Psychiatry has traditionally defined diagnoses by constellations of co-occurring signs and symptoms that are assigned a categorical label (e.g. schizophrenia). Trial methodology in psychiatry has evaluated interventions targeted at these categorical entities, with diagnoses being equated to disorders...
January 18, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28100206/hypoglycemic-effects-of-trichosanthes-kirilowii-and-its-protein-constituent-in-diabetic-mice-the-involvement-of-insulin-receptor-pathway
#14
Hsin-Yi Lo, Tsai-Chung Li, Tse-Yen Yang, Chia-Cheng Li, Jen-Huai Chiang, Chien-Yun Hsiang, Tin-Yun Ho
BACKGROUND: Diabetes is a serious chronic metabolic disorder. Trichosanthes kirilowii Maxim. (TK) is traditionally used for the treatment of diabetes in traditional Chinese medicine (TCM). However, the clinical application of TK on diabetic patients and the hypoglycemic efficacies of TK are still unclear. METHODS: A retrospective cohort study was conducted to analyze the usage of Chinese herbs in patients with type 2 diabetes in Taiwan. Glucose tolerance test was performed to analyze the hypoglycemic effect of TK...
January 18, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28100204/acceptance-and-attitudes-of-healthcare-staff-towards-the-introduction-of-clinical-pharmacy-service-a-descriptive-cross-sectional-study-from-a-tertiary-care-hospital-in-sri-lanka
#15
Lelwala Guruge Thushani Shanika, Chandrani Nirmala Wijekoon, Shaluka Jayamanne, Judith Coombes, Ian Coombes, Nilani Mamunuwa, Andrew Hamilton Dawson, Hithanadura Asita De Silva
BACKGROUND: Multidisciplinary patient management including a clinical pharmacist shows an improvement in patient quality use of medicine. Implementation of a clinical pharmacy service represents a significant novel change in practice in Sri Lanka. Although attitudes of doctors and nurses are an important determinant of successful implementation, there is no Sri Lankan data about staff attitudes to such changes in clinical practice. This study determines the level of acceptance and attitudes of doctors and nurses towards the introduction of a ward-based clinical pharmacy service in Sri Lanka...
January 18, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28099985/-prospective-evaluation-of-the-quality-of-the-results-of-thyroid-surgery-in-an-ent-department
#16
Peter Rolf Issing, Hendrik Tebben, Martin Wenger, Torsten Köhler
Although the thyroid gland is located in the neck it is not a matter of fact that it is a clinical issue for the otorhinolaryngologist in Germany. Probably due to historic reasons general surgeons usually perform operations on the thyroid. As at our department this kind of treatment is an established procedure we prospectively evaluated our thyroid cases in order to present our results.The prospective study started in the year of 2014. So far 231 patients were enrolled with an average age of 53,5 years (16-89)...
January 18, 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28099977/a-step-by-step-clinical-approach-for-the-management-of-neuroendocrine-tumours
#17
A Yordanova, H Ahmadzadehfar, M Gonzalez-Carmona, C Strassburg, K Mayer, G Feldmann, I Schmidt-Wolf, R Lingohr, S Fischer, G Kristiansen, M Essler
Neuroendocrine tumours (NET) are rare neoplasms, but the incidence is permanently increasing. Most of the NETs are slow proliferating and clinically silent, and for that reason, they are often diagnosed at a stage with advanced disease. The complexity and diversity of the NET-biology require the treatment of patients in specialised centres to guarantee a qualified, multidisciplinary treatment planning. At our institution, we developed an interdisciplinary model for the assessment and treatment of NET. The aim was to adapt the guidelines to the clinical practice, exchange of current knowledge, and a tailored approach to the individual patient...
January 18, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28099904/tianfoshen-oral-liquid-a-cfda-approved-clinical-traditional-chinese-medicine-normalizes-major-cellular-pathways-disordered-during-colorectal-carcinogenesis
#18
Siliang Wang, Hengbin Wang, Yin Lu
Colorectal cancer remains the third leading cause of cancer death worldwide, suggesting exploration of novel therapeutic avenues may be useful. In this study, therefore, we determined whether Tianfoshen oral liquid, a Chinese traditional medicine that has been used to treat non-small cell lung cancer, would be therapeutically beneficial for colorectal cancer patients. Our data show that Tianfoshen oral liquid effectively inhibits growth of colorectal cancer cells both in vitro and in vivo. We further employed a comprehensive strategy that included chemoinformatics, bioinformatics and network biology methods to unravel novel insights into the active compounds of Tianfoshen oral liquid and to identify the common therapeutic targets and processes for colorectal cancer treatment...
January 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099548/teledermatology-in-tijuana-mexico
#19
Megan Brown
The Health Frontiers in Tijuana (HFiT) clinic is a binational partnership between the University of California, San Diego School of Medicine (San Diego, California); the Universidad Autónoma de Baja California School of Medicine (Tijuana, Mexico); and Desayunador Salesiano Padre Chava, a community grassroots organization in Tijuana, Mexico. Health Frontiers in Tijuana provides accessible quality health care for the underserved in Tijuana's Zona Norte. This article is a narrative meant to share my clinical experience as a dermatology resident who worked with HFiT to establish teledermatology services at this clinic...
December 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28099450/advanced-neonatal-medicine-in-china-a-national-baseline-database
#20
Xiang-Peng Liao, Selma Chipenda-Dansokho, Antoine Lewin, Nadia Abdelouahab, Shu-Qin Wei
Previous surveys of neonatal medicine in China have not collected comprehensive information on workforce, investment, health care practice, and disease expenditure. The goal of the present study was to develop a national database of neonatal care units and compare present outcomes data in conjunction with health care practices and costs. We summarized the above components by extracting data from the databases of the national key clinical subspecialty proposals issued by national health authority in China, as well as publicly accessible databases...
2017: PloS One
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