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Assessment of the Cytoprotective Effects of High-Dose Valproic Acid Compared to a Clinically Used Lower Dose.

J Surg Res 2021 May 11;266:125-141. Epub 2021 May 11.

Department of Surgery, University of Michigan Health System, Ann Arbor, Michigan; Department of Surgery, Feinberg School of Medicine/Northwestern University, Chicago, Illinois. Electronic address:

Objective: Valproic acid (VPA) treatment improves survival in animal models of injuries on doses higher than those allowed by Food and Drug Administration (FDA). We investigated the proteomic alterations induced by a single high-dose (140mg/kg) of VPA (VPA140) compared to the FDA-approved dose of 30mg/kg (VPA30) in healthy humans. We also describe the proteomic and transcriptomic changes induced by VPA140 in an injured patient. Read More

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Trait dissociation as a predictor of induced dissociation by ketamine or esketamine in treatment-resistant depression: Secondary analysis from a randomized controlled trial.

J Psychiatr Res 2021 May 8;138:576-583. Epub 2021 May 8.

Laboratório de Neuropsicofarmacologia, Serviço de Psiquiatria do Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Salvador, Brazil; Programa de Pós-Graduação em Medicina e Saúde, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, Brazil; Departamento de Neurociências e Saúde Mental, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, Brazil. Electronic address:

Dissociative symptoms are common, possibly severe, side effects associated with the use of ketamine and esketamine in depression. We investigated the relationship between trait dissociation and dissociation induced by ketamine and esketamine used as augmentation therapy in treatment-resistant depression (TRD). Adults with TRD were randomly assigned to receive a single intravenous infusion, with a duration of 40 min, of either esketamine 0. Read More

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Decreased Mortality in 1-Year Survivors of Umbilical Cord Blood Transplant vs. Matched Related or Matched Unrelated Donor Transplant in Patients with Hematologic Malignancies.

Transplant Cell Ther 2021 May 12. Epub 2021 May 12.

Division of Hematologic Malignancies and Cellular Therapy, Department of Medicine, Duke University, Durham, North Carolina, United States. Electronic address:

Background: Allogeneic hematopoietic stem cell transplantation (HCT) has the potential to cure hematologic malignancies, but is associated with significant morbidity and mortality. While deaths during the first year after transplant are often attributable to treatment toxicities and complications, death after the first year may be due to sequelae of accelerated aging caused by cellular senescence. Cytotoxic therapies and radiation used in cancer treatments and conditioning regimens for HCT can induce aging at the molecular level; HCT patients experience time-dependent effects, such as frailty and aging-associated diseases, more rapidly than people who have not been exposed to these treatments. Read More

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Investigation of therapeutic effect of Curcumin α and β Glucoside anomers against Alzheimer's disease by the nose to brain drug delivery.

Brain Res 2021 May 12:147517. Epub 2021 May 12.

Zanjan Applied Pharmacology Research Center, Zanjan University of Medical Sciences, Zanjan, Iran; Department of Pharmacology and toxicology, School of Pharmacy, Zanjan University of Medical Sciences, Zanjan, Iran.

Alzheimer's disease (AD) is one of the greatest geriatric medicinal challenges of our century and is the main disease leading to dementia. Despite extensive scientific research advances, available disease-modifying treatment strategies remained limited; thus, increasing demand for new drugs. In recent years, medicinal plants attracted attention due to their potential role in dementia. Read More

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Evaluating the efficacy of nitazoxanide in uncomplicated amebic liver abscess.

Indian J Gastroenterol 2021 May 15. Epub 2021 May 15.

Department of Gastroenterology, SMS Medical College and Hospital, Jaipur 302 004, India.

Background: Amebic liver abscess is treated successfully with metronidazole or another nitroimidazole drug followed by a luminal amebicide. Metronidazole has long been preferred, but has been associated with several adverse effects including intolerance in certain clinical situations. Mechanisms of metronidazole resistance and mutagenic potential have been described. Read More

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Colorectal cancer incidence and mortality after negative fecal immunochemical tests by age 70: a prospective observational study.

Int J Cancer 2021 May 14. Epub 2021 May 14.

Veneto Tumour Registry, Azienda Zero., Padova, Italy.

Limited endoscopy capacity usually represents the main barrier to the extension of screening to subjects older than 70, given the high positivity rate in this age group. We assessed CRC incidence and mortality by number of previous negative faecal immunochemical tests (FIT) among subjects turning 70. We selected persons aged 70 years who had received their last screening invitation when they were 68 or 69 years old within the population-based screening program in the Veneto region of Italy. Read More

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Associations of Hepatosteatosis with Cardiovascular Disease in HIV Positive and HIV Negative Patients: The Liverpool HIV-Heart Project.

J Acquir Immune Defic Syndr 2021 May 8. Epub 2021 May 8.

Department of Cardiology, Royal Liverpool University Hospital, Liverpool UK Institute of Translational Medicine, University of Liverpool, Liverpool, UK Liverpool Centre for Cardiovascular Science, University of Liverpool and Liverpool Heart & Chest Hospital, Liverpool UK School of Computer Science and Mathematics, Liverpool John Moores University, Liverpool UK.

Background: Hepatosteatosis (HS) has been associated with cardiovascular disorders in the general population. We sought to investigate whether HS is a marker of CVD risk in HIV-positive individuals given that metabolic syndrome is implicated in the increasing CVD burden in this population.

Aims: To investigate the association of hepatosteatosis (HS) with cardiovascular disease (CVD) in HIV-positive and HIV-negative individuals. Read More

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Life-Threatening Bleeding in Children: A Prospective Observational Study.

Crit Care Med 2021 May 12. Epub 2021 May 12.

Division of Emergency Medicine, Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH. Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA. Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA. Division of Pediatric Critical Care Medicine, Department of Pediatrics, University of Oklahoma College of Medicine, The Children's Hospital at University of Oklahoma Health Sciences Center, Oklahoma City, OK. Department of Anesthesia and Critical Care, ARCO Rome, Bambino Gesù Children's Hospital, Rome, Italy. Division of Pediatric Emergency Medicine, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada. Division of Pediatric Emergency Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY. Department of Anesthesiology and Critical Care Medicine, Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA. Division of Pediatric Surgery, Department of Surgery, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA. Department of Anesthesiology, Critical Care and Pain Medicine, Harvard Medical School, Boston Children's Hospital, Boston, MA. Department of Pediatrics, Critical Care Section, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI. Division of Pediatric Emergency Medicine, Department of Pediatrics, University of Utah School of Medicine, Primary Children's Medical Center, Salt Lake City, UT. Division of Emergency Medicine, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Orange Park Medical Center, Orange Park, Florida. Division of Pediatric Surgery, Akron Children's Hospital, Akron, OH. Division of Critical Care Medicine, Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH. Division of Neonatology, Department of Pediatrics, University of California San Francisco Pritzker School of Medicine, University of California San Francisco Medical Center Parnassus, San Francisco, CA. Division of Pediatric Critical Care Medicine, Department of Child Health, University of Arizona College of Medicine, Phoenix Children's Hospital, Phoenix, AZ. Department of Surgery, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, IN. Department of Emergency Medicine, University of Michigan, C.S. Mott Children's Hospital, Ann Arbor, MI. Department of Pediatrics, Dartmouth Hitchcock Medical Center, Children's Hospital at Dartmouth, Lebanon, NH. Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Minnesota Medical School, Department of Pediatric Critical Care Medicine, University of Minnesota Masonic Children's Hospital, Minneapolis, MN. Department of Pediatric Surgery, Vanderbilt University College of Medicine, Monroe Carell Jr Children's Hospital Nashville, TN. Keck School of Medicine of University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA. Department of Pediatric Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX. Department of Surgery, Texas A&M University College of Medicine, McLane Children's Hospital, Temple TX. Division of Pediatric Surgery, Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI. Southlake Pediatrics, Birmingham, AL. Department of Pediatrics, University of Alabama School of Medicine, Children's of Alabama, Birmingham, AL. Division of Critical Care, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis Children's Hospital, St. Louis, MO.

Objectives: The purpose of our study was to describe children with life-threatening bleeding.

Design: We conducted a prospective observational study of children with life-threatening bleeding events.

Setting: Twenty-four childrens hospitals in the United States, Canada, and Italy participated. Read More

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Increasing uptake of long-acting reversible contraception with structured contraceptive counselling: cluster randomised controlled trial (the LOWE trial).

BJOG 2021 May 14. Epub 2021 May 14.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Objectives: To evaluate the effect of structured contraceptive counselling on uptake of long-acting reversible contraceptives (LARCs), and pregnancy rates.

Design: Cluster randomised trial SETTING: Abortion, youth, and maternal health clinics in Stockholm, Sweden.

Population: Sexually active women ≥18 years without a wish for pregnancy seeking abortion and/or contraceptive counselling. Read More

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Subjective Global Nutritional Assessment as a nutritional tool in childhood chronic liver disease.

Br J Nutr 2021 May 14:1-27. Epub 2021 May 14.

Department of Pediatric Hepatology.

Objective of the study was to assess subjective global nutritional assessment (SGNA) in children with chronic liver diseases (CLD). Children aged 3 months to 18 years with CLD were prospectively enrolled (January 2016 to October 2018). SGNA was performed as per validated proforma for children. Read More

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Conversion factors to derive organ doses for canine subjects undergoing CT examinations.

Vet Radiol Ultrasound 2021 May 14. Epub 2021 May 14.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

Although a large number of CT scans are being conducted on small animals, especially in Western countries, little is known of absorbed dose from veterinary CT scans. In the current retrospective analytical study, we estimated the radiation dose delivered to dogs from CT scans with various scan protocols and compared the results with those of human patients. We adopted a total of three computerized canine models with three sizes combined with a computer simulation model of a CT scanner. Read More

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A 12-week, randomized, double-blind, placebo-controlled study assessing the efficacy of EGHB010, a standardized extract of and , in patients with early age-related macular degeneration.

Ann Transl Med 2021 Apr;9(7):541

Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background: EGHB010, a standardized extract of and , inhibits choroidal neovascularization. The aim of this study is to evaluate the efficacy and safety of EGHB010 on early age-related macular degeneration (AMD) progression inhibition.

Methods: The study was designed as a randomized, double-blind, single-center, placebo-controlled study. Read More

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Long Term Outcome of Postoperative Atrial Fibrillation After Cardiac Surgery-A Propensity Score-Matched Cohort Analysis.

Front Cardiovasc Med 2021 27;8:650147. Epub 2021 Apr 27.

Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.

Postoperative atrial fibrillation (POAF) results in a longer hospital stay and excess mortality. However, whether POAF would increase stroke rate has been debated for years. When and how long should anticoagulation be used to prevent stroke are unknown. Read More

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AKI Epidemiology and Outcomes: A Retrospective Cohort Study from the Prenephrology Era.

Int J Nephrol 2021 26;2021:5549316. Epub 2021 Apr 26.

Zentrum für Innere Medizin 1, Kardiologie, Angiologie, Nephrologie, Klinikum Brandenburg, Medizinische Hochschule Brandenburg, Brandenburg, Germany.

Background: Acute kidney injury substantially worsens the prognosis of hospitalized patients. The Brandenburg Medical School was founded in 2014, and a nephrology section was opened in summer 2017. The aim of the study was to analyze AKI epidemiology and outcomes in one of two university hospitals belonging to the medical school. Read More

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Ocular surface complications result from dysregulation of the OGF-OGFr signaling pathway in female diabetic rats.

Exp Ther Med 2021 Jul 28;22(1):687. Epub 2021 Apr 28.

Department of Neural and Behavioral Sciences, Penn State University College of Medicine, Hershey, PA 17033, USA.

Approximately 4.5 million women in the United States exhibit diabetes-associated ocular complications. The time course and magnitude of these complications, and their association with the dysregulation of the opioid growth factor (OGF)-OGF receptor (OGFr) signaling pathway are unknown. Read More

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Providing a nurse-led complex nursing INtervention FOcused on quality of life assessment on advanced cancer patients: The INFO-QoL pilot trial.

Eur J Oncol Nurs 2021 Apr 18;52:101961. Epub 2021 Apr 18.

Department of Health Sciences, University of Genoa, Via Antonio Pastore, 1, 16132, Genoa, Italy. Electronic address:

Purpose: Unmet needs for advanced-disease cancer patients are fatigue, pain, and emotional support. Little information is available about the feasibility of interventions focused on patient-reported outcome measurement developed according to the Medical Research Council (MRC) Framework in advanced-disease cancer patients. We aimed to pilot a nurse-led complex intervention focused on QoL assessment in advanced-disease cancer patients. Read More

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A ventromedial prefrontal dysrhythmia in obsessive-compulsive disorder is attenuated by nucleus accumbens deep brain stimulation.

Brain Stimul 2021 May 10. Epub 2021 May 10.

Laboratory for Clinical Neuroscience, Centre for Biomedical Technology, Universidad Politécnica de Madrid, Spain.

Background: Obsessive-compulsive disorder (OCD) has consistently been linked to abnormal frontostriatal activity. The electrophysiological disruption in this circuit, however, remains to be characterized.

Objective/hypothesispabst: The primary goal of this study was to investigate the neuronal synchronization in OCD patients. Read More

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Outbreak investigation of symptomatic SARS-COV-2 VOC 202012/01-lineage B.1.1.7 infection in healthcare workers, Italy.

Clin Microbiol Infect 2021 May 10. Epub 2021 May 10.

Department of Biomedical Sciences and Human Oncology-Hygiene Section, University of Bari, Bari, Italy. Electronic address:

Objectives: In December 2020, Italy began a national immunization campaign using the BNT162b2 mRNA COVID-19 vaccine, prioritizing healthcare workers (HCWs). Immune serum from vaccinated subjects seems to (largely) retain titres of neutralizing antibodies, even against SARS-CoV-2 VOC 202012/01-lineage B.1. Read More

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Compartmentalization of cerebrospinal fluid inflammation across the spectrum of untreated HIV-1 infection, central nervous system injury and viral suppression.

PLoS One 2021 13;16(5):e0250987. Epub 2021 May 13.

Department of Neurology, University of California San Francisco, San Francisco, CA, United States of America.

Objective: To characterize the evolution of central nervous system (CNS) inflammation in HIV-1 infection applying a panel of cerebrospinal fluid (CSF) inflammatory biomarkers to grouped subjects representing a broad spectrum of systemic HIV-1 immune suppression, CNS injury and viral control.

Methods: This is a cross-sectional analysis of archived CSF and blood samples, assessing concentrations of 10 functionally diverse soluble inflammatory biomarkers by immunoassays in 143 HIV-1-infected subjects divided into 8 groups: untreated primary HIV-1 infection (PHI); four untreated groups defined by their blood CD4+ T lymphocyte counts; untreated patients presenting with subacute HIV-associated dementia (HAD); antiretroviral-treated subjects with ≥1 years of plasma viral suppression; and untreated elite controllers. Twenty HIV-1-uninfected controls were included for comparison. Read More

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Parametric-based feature selection via spherical harmonic coefficients for the left ventricle myocardial infarction screening.

Med Biol Eng Comput 2021 May 13. Epub 2021 May 13.

Department of Biomedical Engineering and Medical Physics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Computer-aided diagnosis (CAD) of heart diseases using machine learning techniques has recently received much attention. In this study, we present a novel parametric-based feature selection method using the three-dimensional spherical harmonic (SHs) shape descriptors of the left ventricle (LV) for intelligent myocardial infarction (MI) classification. The main hypothesis is that the SH coefficients of the parameterized endocardial shapes in MI patients are recognizable and distinguishable from healthy subjects. Read More

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Real-world evidence of cytomegalovirus reactivation in non-Hodgkin lymphomas treated with bendamustine-containing regimens.

Open Med (Wars) 2021 21;16(1):672-682. Epub 2021 Apr 21.

Hematology and Transplant Center, University Hospital "San Giovanni di Dio e Ruggi d'Aragona", Salerno, 84131, Italy.

Cytomegalovirus (CMV) reactivation during chemotherapy or after organ or hematopoietic stem cell transplantation is a major cause of morbidity and mortality, and the risk of reactivation increases with patients' age. Bendamustine, an alkylating agent currently used for treatment of indolent and aggressive non-Hodgkin lymphomas, can augment the risk of secondary infections including CMV reactivation. In this real-world study, we described an increased incidence of CMV reactivation in older adults (age >60 years old) with newly diagnosed and relapsed/refractory indolent and aggressive diseases treated with bendamustine-containing regimens. Read More

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Successful Treatment of AA Amyloidosis in Ankylosing Spondylitis Using Tocilizumab: Report of Two Cases and Review of the Literature.

Front Med (Lausanne) 2021 26;8:661101. Epub 2021 Apr 26.

Department of Biomedical and Clinical Sciences, Division of Inflammation and Infection, Linköping University, Linköping, Sweden.

Historically, secondary amyloidosis has been a feared complication of chronic inflammatory conditions. The fibril protein AA derives from the acute phase reactant serum amyloid A (SAA). Long-term elevation of SAA levels remains a major risk factor for the development of AA amyloidosis in rheumatic diseases, and the prognosis may be unpredictable. Read More

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Capecitabine as Maintenance Therapy for High-Risk, Resected Colorectal Cancer.

Gastrointest Tumors 2021 Apr 10;8(2):81-86. Epub 2021 Mar 10.

Department of Medicine, West Virginia University, Morgantown, West Virginia, USA.

Introduction: In 2020, colorectal cancer will be the fourth most frequently diagnosed malignant neoplasm and the second leading cause of site-specific, cancer-related deaths in the USA. Notably, 80% of the new cases are, by staging criteria, potentially curable even those with completely resected stage 4 disease. If slightly more than half the losses can be attributed to metastatic disease at presentation, then the remaining portion of deaths may be linked to disease relapse after surgery and, if applicable, adjuvant chemotherapy. Read More

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Repeat Epidural Injections of SP-102 (Dexamethasone Sodium Phosphate Injectable Gel) in Subjects with Lumbosacral Radiculopathy.

J Pain Res 2021 5;14:1231-1239. Epub 2021 May 5.

Global Research and Development, Scilex Pharmaceuticals Inc, Palo Alto, CA, USA.

Purpose: SP-102 is a novel epidural steroid injection (ESI) formulation of 10 mg dexamethasone sodium phosphate in a viscous gel solution. Repeat dosing of ESIs is possible if required for pain relief, but with consideration of hypothalamic-pituitary-adrenal (HPA) axis suppression from prolonged systemic exposure. This phase I/II study investigated the effect of initial and repeat SP-102 injections on HPA suppression and analgesia. Read More

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Pain Perception in Cataract Surgery: Topical versus Peribulbar Anaesthesia.

Nepal J Ophthalmol 2021 Jan;13(25):50-58

Himalaya Eye Hospital, Gharipatan, Pokhara.

Introduction: The requirement for very deep akinesia has decreased with the use of modern phacoemulsification technique for cataract surgery. The use of topical anesthesia has increased as a way to reduce complications associated with anaesthesia with injection and to allow the most rapid visual recovery. The objective of this study was to assess the patient reported pain in phacoemulsification cataract surgery under topical anaesthesia versus peribulbar anaesthesia administered using an injection. Read More

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January 2021

Awareness, treatment, control, and determinants of dyslipidemia among adults in China.

Sci Rep 2021 May 12;11(1):10056. Epub 2021 May 12.

Department of Social Medicine and Health Management, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, China.

Effective management of dyslipidemia is important. This study aimed to determine the awareness, treatment, control, and determinants of dyslipidemia in middle-aged and older Chinese adults in China. Using data from the 2015 China National Stroke Screening and Prevention Project (CNSSPP), a nationally representative sample of 135,403 Chinese adults aged 40 years or more were included in this analysis. Read More

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Integrative Nutritional Counseling Combining Chinese Medicine and Biomedicine for Chinese Americans with Type 2 Diabetes: A Mixed-Methods Feasibility Study.

J Altern Complement Med 2021 May 12. Epub 2021 May 12.

Division of General Internal Medicine, University of California San Francisco, San Francisco, CA, USA.

This study describes the development and feasibility of Integrative Nutritional Counseling (INC), a Chinese medicine (CM)+biomedicine-based nutrition curriculum for Chinese Americans with type 2 diabetes. Although Chinese Americans often incorporate CM principles into their diet, scant research has explored how to integrate CM with biomedical nutrition standards in a culturally appropriate manner or if such a program could improve diabetes self-management. This is a 1-month pre-post study design including three points of contact: baseline, in-person class, and 1-month follow-up. Read More

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Efficacy of domiciliary noninvasive ventilation on clinical outcomes in posthospital chronic obstructive pulmonary disease patients: a meta-analysis of randomized controlled trials.

Ann Palliat Med 2021 Apr 30. Epub 2021 Apr 30.

Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, China; Research Unit of Respiratory Disease, Central South University, Changsha, China; Diagnosis and Treatment Center of Respiratory Disease, Central South University, Changsha, China.

Background: As newly emerging evidence was given, we conducted a meta-analysis of randomized controlled trials (RCTs) with the following objectives: (I) to evaluate the effect of long-term noninvasive ventilation (NIV) on posthospital chronic obstructive pulmonary disease (COPD) patients with respiratory failure in mortality, blood gas, exacerbation frequency; (II) to distinguish different follow-up length of longterm NIV and its effect on these outcomes.

Methods: We tried to conduct and report this meta-analysis in accordance with the Cochrane Handbook (version 5.1. Read More

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Randomized Prospective Open Label Study Shows No Impact on Clinical Outcome of Adding Losartan to Hospitalized COVID-19 Patients with Mild Hypoxemia.

Infect Dis Ther 2021 May 11. Epub 2021 May 11.

Sharp Memorial Hospital, Sharp Memorial Research Pharmacy, 7901 Frost Street, San Diego, CA, 92123, USA.

Introduction: Despite considerable scientific debate, there have been no prospective clinical studies on the effects of angiotensin II receptor blockers (ARBs) on the course of COVID-19 infection. Losartan is the ARB that was chosen to be tested in this study.

Methods: Patients with COVID-19 and mild hypoxia (receipt of ≤ 3 L/min O by nasal cannula) admitted to three hospitals were randomized in a 1:1 ratio within 72 h of SARS-CoV-2 nucleic acid testing confirmation to prospectively receive standard of care (SOC) alone or SOC plus losartan 12. Read More

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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.

JIMD Rep 2021 May 27;59(1):60-68. Epub 2021 Jan 27.

Developmental Neuropsychopharmacology Laboratory, Department of Anatomy Howard University College of Medicine Washington District of Columbia USA.

Population studies point to regional and ethnicity-specific differences in genetic predisposition for some lysosomal storage disorders (LSDs). The aim of the study was to determine the prevalence of the three treatable forms of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of mostly urban-dwelling individuals of African ancestry, a previously unknown genetic landscape for LSDs. Large-scale selective multistep biochemical and genetic screening was performed in patients seeking healthcare for various health concerns. Read More

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