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Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Diego Luigi Cortinovis
In recent years immunotherapy has become a fundamental part of the treatment of many solid tumors, including non-small cell lung cancer (NSCLC). With the results of trials investigating the role of monoclonal antibodies against immuno-checkpoints in particular, today these drugs have become part of everyday clinical practice, even though many questions still remain unresolved (optimal duration of treatment, prognostic and predictive role of biomarkers, management of immuno-related toxicity). Here we report the case of our patient with diagnosis of metastatic lung adenocarcinoma "non oncogene driven" successfully treated in second line with nivolumab, analyzing the problems and the questions most frequently evidenced during treatment with these new molecules...
March 2018: Recenti Progressi in Medicina
David Cameron, Jasper Ubels, Fredrik Norström
BACKGROUND: The amount a government should be willing to invest in adopting new medical treatments has long been under debate. With many countries using formal cost-effectiveness (C/E) thresholds when examining potential new treatments and ever-growing medical costs, accurately setting the level of a C/E threshold can be essential for an efficient healthcare system. OBJECTIVES: The aim of this systematic review is to describe the prominent approaches to setting a C/E threshold, compile available national-level C/E threshold data and willingness-to-pay (WTP) data, and to discern whether associations exist between these values, gross domestic product (GDP) and health-adjusted life expectancy (HALE)...
2018: Global Health Action
Anne G Pereira, Michael Kim, Marcus Seywerd, Brooke Nesbitt, Michael B Pitt
BACKGROUND: Use of the electronic health record (EHR) is widespread in academic medical centers, and hands-on EHR experience in medical school is essential for new residents to be able to meaningfully contribute to patient care. As system-specific EHR training is not portable across institutions-even when the same EHR platform is used-students rotating across health systems are often required to spend time away from clinical training to complete each system's, often duplicative, EHR training regardless of their competency within the EHR...
January 2018: Applied Clinical Informatics
Diego Munguia-Izquierdo, Luis Suarez-Arrones, Valter Di Salvo, Victor Paredes-Hernandez, Julian Alcazar, Ignacio Ara, Richard Kreider, Alberto Mendez-Villanueva
This study determined the most effective field method for quantifying body fat percentage in male elite youth soccer players and developed prediction equations based on anthropometric variables. Forty-four male elite-standard youth soccer players aged 16.3-18.0 years underwent body fat percentage assessments, including bioelectrical impedance analysis and the calculation of various skinfold-based prediction equations. Dual X-ray absorptiometry provided a criterion measure of body fat percentage. Correlation coefficients, bias, limits of agreement, and differences were used as validity measures, and regression analyses were used to develop soccer-specific prediction equations...
March 21, 2018: International Journal of Sports Medicine
Louise J Keown, Matthew R Sanders, Nike Franke, Matthew Shepherd
Evidence-based parenting support programs (EBPS) based on social learning and cognitive behavioral principles are effective in reducing conduct-related problems in a diverse range of cultural contexts. However, much less is known about their effects with indigenous families. A Collaborative Participation Adaptation Model (CPAM) was used to culturally adapt a low-intensity, two-session group variant of the Triple P-Positive Parenting Program for Māori parents of young children in New Zealand. CPAM involved collaborating closely with Māori tribal elders, practitioners as end-users, and parents as consumers through a participatory process to identify content and delivery process used in Triple P that would ensure that traditional Māori cultural values were incorporated...
March 22, 2018: Prevention Science: the Official Journal of the Society for Prevention Research
Laura Longoni, Livio Provenzi, Anna Cavallini, Daniela Sacchi, Giunia Scotto di Minico, Renato Borgatti
The NOMAS is by far the most used tool to screen early oral-motor skills in newborns. Here we provide an updated review of scientific literature on the use of the Neonatal Oral Motor Assessment Scale (NOMAS) to screen early oral-motor skills in newborns. An integrative review has been carried out consistent with PRISMA guidelines and standardized qualitative appraisal. Data abstracting and synthesis were executed by two independent co-authors who solved disagreement in conference. Twenty records have been included and reviewed...
March 21, 2018: European Journal of Pediatrics
Akira Nishikado, Ryo Kawata, Shin-Ichi Haginomori, Tetsuya Terada, Masaaki Higashino, Yoshitaka Kurisu, Yoshinobu Hirose
BACKGROUND: This study investigated the clinical outcomes of patients with parotid carcinoma at a single institution during an 18-year period, with the focus on diagnosis, treatment, and survival. METHODS: The subjects were 171 patients with parotid carcinoma treated at our department during the 18-year period from September 1999 to August 2017. There were 19 patients in stage I, 65 patients in stage II, 22 patients in stage III, and 65 patients in stage IV. The symptoms, preoperative diagnosis, node metastasis, survival rate, prognostic factors, and immunohistological findings were investigated...
March 21, 2018: International Journal of Clinical Oncology
Andreas Ströhle
Sports psychiatry has developed for the past 3 decades as an emerging field within psychiatry and sports medicine. An International society has been established in 1994 and also national interest groups were implemented, mostly within the national organizations for psychiatry, some also containing the topic of exercise treatment of mental disorders. Where are we now 30 years later? We systematically but also selectively review the medical literature on exercise, sport, psychiatry, mental health and mental disorders and related topics...
March 21, 2018: European Archives of Psychiatry and Clinical Neuroscience
Torsten C Schmidt
Water analysis has been an important area since the beginning of analytical chemistry. The focus though has shifted substantially: from minerals and the main constituents of water in the time of Carl Remigius Fresenius to a multitude of, in particular, organic compounds at concentrations down to the sub-nanogram per liter level nowadays. This was possible only because of numerous innovations in instrumentation in recent decades, drivers of which are briefly discussed. In addition to the high demands on sensitivity, high throughput by automation and short analysis times are major requirements...
March 21, 2018: Analytical and Bioanalytical Chemistry
Sophia Lazar, Lawrence E Goldfinger
Platelet-derived microparticles (PMPs) have long been known to increase in circulation in the presence of cancer, and have been considered to be cancer promoting by multiple mechanisms including shrouding of circulating tumor cells allowing immune evasion, inducing a procoagulant state associated with increased risk for venous thromboembolic events in cancer patients, and supporting metastatic dissemination by establishment of niches for anchorage of circulating tumor cells. These modes of PMP-enhanced progression of late stage cancer are generally based on the adhesive and procoagulant surfaces of PMPs...
2018: Frontiers in Cardiovascular Medicine
Young Nam Kwon, Sung Sang Yoon, Kyung-Hag Lee
Background: Sarcopenia causes loss of muscle mass in the elderly and is associated with development of metabolic syndrome in those with obesity. This study evaluated the prevalence of sarcopenic obesity (SO) in healthy Korean elderly women. Methods: This study was based on data from the Korea National Health and Nutrition Examination Survey IV and V, 2008-2011. Whole body dual energy X-ray absorptiometry and body mass index measurement were performed for all patients...
February 2018: Journal of Bone Metabolism
Jeong Jae Moon, Sam-Guk Park, Seung Min Ryu, Chan-Ho Park
Background: We sought to develop a novel index based on the skeletal muscle mass that reflects the change of quality of life (QOL), and is the most appropriate index for the body composition of the elderly in Korea. Whether lower extremity skeletal muscle mass index (LESMI) is an appropriate novel new index to diagnose patients with sarcopenia was also evaluated. A cut-off value for each index was reported to facilitate the diagnosis of patients with sarcopenia in a Korean population...
February 2018: Journal of Bone Metabolism
Asit Kumar Sikary, Sumit Dixit, Om P Murty
Background: Carbon monoxide (CO) is a colorless, odorless, tasteless, and nonirritating gas which makes it difficult for those who are exposed, to detect it, leading to unexpected death. This study was undertaken to see the pattern of fatal CO poisoning and to discuss preventive aspect. Materials and Methods: It was a retrospective descriptive study of fatal CO cases which were autopsied at All India Institute of Medical Sciences, New Delhi, from the year 2010 to the year 2015...
October 2017: Journal of Family Medicine and Primary Care
Abolfazl Marvi, Mehran Asadi-Aliabadi, Mehdi Darabi, Fereshteh Rostami-Maskopaee, Hasan Siamian, Ghasem Abedi
Introduction and Aim: Tuberculosis (TB) poses a severe risk to public health through the world but excessively distresses low-income nations. The aim of this study is to analyze silent changes of TB in Iran (2005-2015): A joinpoint regression analysis. Materials and Methods: This is a trend study conducted on all patients ( n = 70) that register in control disease center of Joibar (one of coastal cities and tourism destination in Northern Iran which was recognized as an independent town since 1998) during 2005-2015...
October 2017: Journal of Family Medicine and Primary Care
Maria Shoaib, Jacqueline J Kraus, Muhammad T Khan
Herpes simplex virus encephalitis (HSVE) is a medical emergency associated with high mortality and morbidity. Definitive diagnosis is established by history, clinical examination, neuroimaging studies, supportive electroencephalogram (EEG) findings, and cerebrospinal fluid (CSF) analysis. We report a case of HSVE presenting as a stroke mimic in a 76-year-old female with a history of atrial fibrillation on warfarin. She was admitted to our medical intensive care unit with intermittent fever, lethargy, and new onset left-sided hemiparesis...
January 15, 2018: Curēus
Aparna Kalyan, Sheetal Kircher, Hiral Shah, Mary Mulcahy, Al Benson
Despite significant advances in standard of care therapies, the 5-year survival rate for metastatic colorectal cancer (CRC) remains around 12%. Immunotherapy has not provided the stellar advances in colorectal cancer that has been seen in other malignancies. Immunotherapy appears to play a pivotal role in microsatellite unstable CRC tumors where the response rates are profound. These results have led to FDA approval of pembrolizumab for MSI-H CRC tumors. Additional research into several new immune agents including IDO inhibitors, vaccine therapy and combinatorial agents are being evaluated for CRC...
February 2018: Journal of Gastrointestinal Oncology
Emily B Wroe, Elizabeth L Dunbar, Noel Kalanga, Luckson Dullie, Chiyembekezo Kachimanga, Andrew Mganga, Michael Herce, Jason Beste, Jonas Rigodon, Lawrence Nazimera, Ryan K McBain
Introduction: Partners In Health and the Malawi Ministry of Health collaborate on comprehensive HIV services in Neno, Malawi, featuring community health workers, interventions addressing social determinants of health and health systems strengthening. We conducted an observational study to describe the HIV care continuum in Neno and to compare facility-level HIV outcomes against health facilities nationally. Methods: We compared facility-level outcomes in Neno (n=13) with all other districts (n=682) from 2013 to 2015 using mixed-effects linear regression modelling...
2018: BMJ Global Health
Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog, Walid Al Achkar
Background: Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death...
2018: Molecular Cytogenetics
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