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https://www.readbyqxmd.com/read/28804516/the-role-of-sebelipase-alfa-in-the-treatment-of-lysosomal-acid-lipase-deficiency
#1
REVIEW
Angelika L Erwin
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28803356/the-prognostic-impact-of-malnutrition-in-patients-with-severely-decompensated-acute-heart-failure-as-assessed-using-the-prognostic-nutritional-index-pni-and-controlling-nutritional-status-conut-score
#2
Akihiro Shirakabe, Noritake Hata, Nobuaki Kobayashi, Hirotake Okazaki, Masato Matsushita, Yusaku Shibata, Suguru Nishigoori, Saori Uchiyama, Kuniya Asai, Wataru Shimizu
Patients with heart failure (HF) are sometimes classified as malnourished, but the prognostic value of nutritional status in acute HF (AHF) remains largely unstudied. 1214 patients who were admitted to the intensive care unit between January 2000 and June 2016 were screened based on their serum albumin, lymphocyte count, and total cholesterol measures. A total of 458 HF patients were enrolled in this study. The Prognostic Nutritional Index (PNI) is calculated as 10 × serum albumin (g/dL) + 0.005 × lymphocyte count (per mm(3)) (lower = worse)...
August 12, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28803350/comparison-of-mitral-competence-after-mitral-repair-with-papillary-muscle-approximation-versus-papillary-muscle-relocation-for-functional-mitral-regurgitation
#3
Koji Furukawa, Mitsuhiro Yano, Eisaku Nakamura, Masakazu Matsuyama, Masanori Nishimura, Katsuya Kawagoe, Kunihide Nakamura
The purpose of this study was to evaluate the surgical results of papillary muscle approximation (PMA) and papillary muscle relocation (PMR) for functional mitral regurgitation (FMR) and to compare the effects of both procedures on the change in mitral regurgitation (MR) and echocardiogram parameters associated with tethering. Eighteen patients with moderate-to-severe FMR (MR grade ≥2) who underwent PMA or PMR were retrospectively analyzed. Underlying diseases were ischemic cardiomyopathy, idiopathic dilated cardiomyopathy, and aortic valve disease for seven, six, and five patients, respectively...
August 12, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28802823/access-to-and-use-of-health-services-as-factors-associated-with-neonatal-mortality-in-the-north-northeast-and-vale-do-jequitinhonha-regions-brazil
#4
Cristiane B Batista, Márcia L de Carvalho, Ana Glória G Vasconcelos
OBJECTIVE: To analyze the factors associated with neonatal mortality related to health services accessibility and use. METHODS: Case-control study of live births in 2008 in small- and medium-sized municipalities in the North, Northeast, and Vale do Jequitinhonha regions, Brazil. A probabilistic sample stratified by region, population size, and information adequacy was generated for the choice of municipalities. Of these, all municipalities with 20,000 inhabitants or less were included in the study (36 municipalities), whereas the remainder were selected according to the probability method proportional to population size, totaling 20 cities with 20,001-50,000 inhabitants and 19 municipalities with 50,001-200,000 inhabitants...
August 9, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#5
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28800758/validation-of-verbal-autopsy-determination-of-cause-of-deaths-in-malaysia-2013
#6
Shubash Shander Ganapathy, Yi Yi Khoo, Mohd Omar Azahadi, Mohamad Anuar Mohamad Fuad, Chandrika Jeevananthan, Chalapati Rao
BACKGROUND: Mortality statistics by age, sex and cause are the foundation of basic health data required for health status assessment, epidemiological research and formation of health policy. Close to half the deaths in Malaysia occur outside a health facility, are not attended by medical personnel, and are given a lay opinion as to the cause of death, leading to poor quality of data from vital registration. Verbal autopsy (VA) is a very useful tool in diagnosing broad causes of deaths for events that occur outside health facilities...
August 11, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28800455/in%C3%A2-vitro-targeting-of-colon-cancer-cells-using-spiropyrazoline-oxindoles
#7
Rute C Nunes, Carlos J A Ribeiro, Ângelo Monteiro, Cecília M P Rodrigues, Joana D Amaral, Maria M M Santos
We report on the synthesis and biological evaluation of a library of twenty-three spiropyrazoline oxindoles. The antiproliferative activity of the chemical library was evaluated in HCT-116 p53((+/+)) human colon cancer cell line with eight derivatives displaying good activities (IC50<15 μM). To characterize the molecular mechanisms involved in compound antitumoral activity, two spiropyrazoline oxindoles were selected for further studies. Both compounds were able to induce apoptosis and cell cycle arrest at G0/G1 phase and upregulated p53 steady-state levels, while decreasing its main inhibitor MDM2...
July 24, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28799068/colorectal-cancer-screening-in-asia
#8
REVIEW
Han-Mo Chiu, Wen-Feng Hsu, Li-Chun Chang, Ming-Hsiang Wu
PURPOSE OF REVIEW: Colorectal cancer (CRC) is increasing in Asia, especially in regions with higher levels of economic development. Several Asian countries have launched population CRC screening programs to combat this devastating disease because previous studies have demonstrated that either fecal occult blood test or lower gastrointestinal endoscopy can effectively reduce CRC mortality. RECENT FINDINGS: Screening includes engaging the population, testing, administering a confirmation examination, and treating screening-detected neoplasms; thus, monitoring the whole process using measurable indicators over time is of utmost importance...
August 10, 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28798680/striatal-network-models-of-huntington-s-disease-dysfunction-phenotypes
#9
Pengsheng Zheng, James Kozloski
We present a network model of striatum, which generates "winnerless" dynamics typical for a network of sparse, unidirectionally connected inhibitory units. We observe that these dynamics, while interesting and a good match to normal striatal electrophysiological recordings, are fragile. Specifically, we find that randomly initialized networks often show dynamics more resembling "winner-take-all," and relate this "unhealthy" model activity to dysfunctional physiological and anatomical phenotypes in the striatum of Huntington's disease animal models...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28797852/talking-about-death-with-terminally-ill-cancer-patients-what-contributes-to-the-regret-of-bereaved-family-members
#10
Masanori Mori, Saran Yoshida, Mariko Shiozaki, Mika Baba, Tatsuya Morita, Maho Aoyama, Yoshiyuki Kizawa, Satoru Tsuneto, Yasuo Shima, Mitsunori Miyashita
CONTEXT: Talking about death is an important issue for terminally-ill cancer patients and their families. Little is known about how often and which bereaved families regret not having talked about death with their deceased loved one. OBJECTIVES: To explore the prevalence of a regret of not having talked about death with a deceased loved one among bereaved family members of adult cancer patients, and to systematically explore factors contributing to their regret...
August 7, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28797565/low-adherence-to-antidepressants-is-associated-with-increased-mortality-in-parkinson-disease-patients
#11
Gal Shoval, Brendon Stubbs, Ran D Balicer, Becca Feldman, Moshe Hoshen, Gil Zalsman, Roi Sagy, Eldar Hochman, Abraham Weizman, Amir Krivoy
INTRODUCTION: The purpose of this study was to evaluate the relationship between adherence to antidepressants (AD) and all-cause mortality in a population-based cohort of patients with Parkinson's Disease (PD). METHODS: From a database of more than 4 million people, 8553 patients with PD who purchased an AD at least once between the years 2008-2011 were retrospectively followed for all-cause mortality over 4-years. Adherence was measured as a ratio between dispensed and prescribed durations and was modeled as: non-adherence (<20%, n = 1566), poor (20%-50%, n = 1184), moderate (50%-80%, n = 1584), and good (>80%, n = 4219) adherence...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28797175/role-of-lipids-and-intraplaque-hypoxia-in-the-formation-of-neovascularization-in-atherosclerosis
#12
Dimitry A Chistiakov, Alexandra A Melnichenko, Veronika A Myasoedova, Andrey V Grechko, Alexander N Orekhov
According to the current paradigm, chronic vascular inflammation plays a central role in the pathogenesis of atherosclerosis. The plaque progression is typically completed with rupture and subsequent acute cardiovascular complications. Previously, the role of adventitial vasa vasorum in atherogenesis was underestimated. However, investigators then revealed that vasa vasorum neovascularization can be observed when no clinical manifestation of atherosclerosis is present. Vasa vasorum is involved in various proatherogenic processes such as intimal accumulation of inflammatory leukocytes, intimal thickening, necrotic core formation, intraplaque hemorrhage, lesion repture, and atherothrombosis...
August 11, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28796681/vasa-previa-diagnosis-clinical-practice-and-outcomes-in-australia
#13
Elizabeth A Sullivan, Nasrin Javid, Gregory Duncombe, Zhuoyang Li, Nadom Safi, Robert Cincotta, Caroline S E Homer, Lesley Halliday, Yinka Oyelese
OBJECTIVE: To estimate the incidence of women with vasa previa in Australia and to describe risk factors, timing of diagnosis, clinical practice, and perinatal outcomes. METHODS: A prospective population-based cohort study was undertaken using the Australasian Maternity Outcomes Surveillance System between May 1, 2013, and April 30, 2014, in hospitals in Australia with greater than 50 births per year. Women were included if they were diagnosed with vasa previa during pregnancy or childbirth, confirmed by clinical examination or placental pathology...
August 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28795900/translation-and-testing-of-the-italian-version-of-famcare-2-measuring-family-caregivers-satisfaction-with-palliative-care
#14
Daniela D'Angelo, Antonella Cinzia Punziano, Chiara Mastroianni, Annamaria Marzi, Roberto Latina, Valerio Ghezzi, Michela Piredda, Maria Grazia De Marinis
Family satisfaction is an important outcome of palliative care and is a critical measure for health care professionals to address when assessing quality of care. The FAMCARE-2 is a widely used measure of family satisfaction with the health care received by both patient and family in palliative care. In this study, a team of Italian researchers culturally adapted the FAMCARE-2 to the Italian language and psychometrically tested the instrument by measuring satisfaction of 185 family caregivers of patients admitted into two palliative care services...
May 2017: Journal of Family Nursing
https://www.readbyqxmd.com/read/28795690/ir-780-loaded-polymeric-micelles-enhance-the-efficacy-of-photothermal-therapy-in-treating-breast-cancer-lymphatic-metastasis-in-mice
#15
Bin He, Hai-Yan Hu, Tao Tan, Hong Wang, Kao-Xiang Sun, Ya-Ping Li, Zhi-Wen Zhang
Cancer metastasis is responsible for over 90% of breast cancer-related deaths, and inhibiting lymph node metastasis is an option to treat metastatic disease. Herein, we report the use of IR-780-loaded polymeric micelles (IPMs) for effective photothermal therapy (PTT) of breast cancer lymphatic metastasis. The IPMs were nanometer-sized micelles with a mean diameter of 25.6 nm and had good stability in simulated physiological solutions. Under 808-nm laser irradiation, IPMs exhibited high heat-generating capability in both in vitro and in vivo experiments...
August 10, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28795214/derivation-validation-and-application-of-a-pragmatic-risk-prediction-index-for-benchmarking-of-surgical-outcomes
#16
Richard T Spence, David C Chang, Haytham M A Kaafarani, Eugenio Panieri, Geoffrey A Anderson, Matthew M Hutter
BACKGROUND: Despite the existence of multiple validated risk assessment and quality benchmarking tools in surgery, their utility outside of high-income countries is limited. We sought to derive, validate and apply a scoring system that is both (1) feasible, and (2) reliably predicts mortality in a middle-income country (MIC) context. METHODS: A 5-step methodology was used: (1) development of a de novo surgical outcomes database modeled around the American College of Surgeons' National Surgical Quality Improvement Program (ACS-NSQIP) in South Africa (SA dataset), (2) use of the resultant data to identify all predictors of in-hospital death with more than 90% capture indicating feasibility of collection, (3) use these predictors to derive and validate an integer-based score that reliably predicts in-hospital death in the 2012 ACS-NSQIP, (4) apply the score in the original SA dataset and demonstrate its performance, (5) identify threshold cutoffs of the score to prompt action and drive quality improvement...
August 9, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28795141/posttransplant-outcomes-of-kidneys-donated-after-brain-death-followed-by-circulatory-death-a-cohort-study-of-128-chinese-patients
#17
Ning Na, Ke Li, Zhengyu Huang, Bin Miao, Cheng Hu, Heng Li, Dejuan Wang, Jianguang Qiu
BACKGROUND: Donation after brain death followed by circulatory death (DBCD) is a new class in the unique Chinese donor classification system. Currently, in China, the organ transplantation of DBCD is rising. However, there is a dearth of research on the characteristics and outcomes of DBCD kidney transplantation. METHOD: We collected 128 DBCD renal transplant patients who underwent surgery between June 2013 and May 2016 at our center to analyze clinical outcomes and to share our experience to enhance perioperative management in DBCD kidney transplantation...
August 2017: Transplantation Direct
https://www.readbyqxmd.com/read/28794388/long-term-outcomes-after-video-assisted-thoracoscopic-pericardiectomy-for-pericardial-effusion
#18
Yasushi Mizukami, Nobuhito Ueda, Hirofumi Adachi, Jun Arikura, Keishi Kondo
PURPOSE: Chronic or recurrent pericardial effusion is often associated with malignant disease. However, there have been few reports of the long-term outcomes after video-assisted thoracoscopic (VATS) pericardiectomy. We have performed it since 1992, and report our procedure and outcomes. METHODS: Patients who underwent VATS pericardiectomy were investigated. RESULTS: In all, 29 patients (12 men; median age: 61 (23-88) years) were evaluated; 8 had no malignancies and 21 did...
August 9, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28792353/czech-adaption-of-the-collett-lester-fear-of-death-scale-in-a-sample-of-nursing-students
#19
Radka Bužgová, Eva Janíková
The use of multidimensional scales for assessing fear of death among nursing students can assist in teaching and evaluating the effectiveness of targeted training in thanatology. Research has demonstrated good psychometric characteristics of the Czech version of the Collett-Lester Fear of Death Scale (CL-FODS). It was applied to nursing students ( N = 256), who reported as their biggest fear the process of their own dying. Greater fear of death and dying was found in students who had no experience of the dying and death of a loved one...
January 1, 2017: Omega
https://www.readbyqxmd.com/read/28791773/sarcoidosis-with-takayasu-arteritis-a-model-of-overlapping-granulomatosis-a-report-of-seven-cases-and-literature-review
#20
Catherine Chapelon-Abric, David Saadoun, Isabelle Marie, Cloé Comarmond, Anne Claire Desbois, Fanny Domont, Léa Savey, Patrice Cacoub
OBJECTIVE: To describe the features of exceptional coexisting Takayasu arteritis (TA) and sarcoidosis, two conditions of unknown cause associated with a common immunologic pattern. METHODS: We report seven cases of concomitant sarcoidosis-Takayasu or Takayasu-like vasculitis, observed in two referral centers between 1995 and 2015. RESULTS: All patients were female. The mean age at sarcoidosis diagnosis and TA diagnosis was 36 and 37 years, respectively...
August 8, 2017: International Journal of Rheumatic Diseases
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