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Transplant Cell Ther 2021 May 4. Epub 2021 May 4.

Department of Haematology, UCL Cancer Institute, University College London, London, UK; Department of Haematology, University College London Hospitals NHS Foundation Trust, London, UK.

Background: Epstein-Barr virus (EBV) load monitoring post-allogeneic haematopoietic stem cell transplantation (HSCT) enables earlier detection of EBV replication and is often used as a trigger for pre-emptive therapies aiming to reduce EBV-related diseases. Our institutional strategy is to treat patients with clinical signs of EBV-related disease accompanied by a rising viral load, rather than to intervene solely based on viral load. This affords an opportunity to study the natural history of EBV replication and to assess if our strategy reduces over-treatment without compromising outcomes. Read More

J Mol Diagn 2021 May 4. Epub 2021 May 4.

NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Barker Street, Randwick, New South Wales 2031, Australia; Neuroscience Research Australia (NeuRA), 139 Barker Street, Randwick, New South Wales 2031, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, High Street Randwick New South Wales 2031, Australia. Electronic address:

Massively parallel sequencing has improved Mendelian diagnostic rates dramatically. The authors assessed the effects of custom alterations to a diagnostic genomic bioinformatic pipeline in response to clinical need and derived practice recommendations relative to diagnostic rates and efficiency. The Genomic Annotation and Interpretation Application (GAIA) bioinformatics pipeline was designed to detect panel/exome/genome sample integrity and prioritize gene variants in Mendelian disorders. Read More

Disabil Rehabil 2021 May 7:1-11. Epub 2021 May 7.

Institute of Nursing and Health Research, Ulster University, Newtownabbey, UK.

Purpose: Despite the clinical benefits, coronary artery disease patient participation rates in cardiac rehabilitation (CR) and long-term exercise are poor. This study explored the factors related to participation in these interventions from the perspectives of post-acute myocardial infarction (AMI) patients and their significant others.

Methods: Semi-structured interviews were performed with post-AMI patients (number () = 10) and their significant others ( = 10) following phase-III and phase-IV CR. Read More

Ann Surg Oncol 2021 May 7. Epub 2021 May 7.

Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

Background: Unlike other sarcoma subtypes, myxoid liposarcoma (MLS) has a propensity for extra-pulmonary metastases. Computed tomography (CT) scan of the chest, abdomen, and pelvis has become an accepted practice for surveillance. However, recent literature suggests that this may be inadequate. Read More

Br J Haematol 2021 May 7. Epub 2021 May 7.

Department of Haematology, Oxford University Hospital NHS Foundation Trust, Oxford, UK.

Mantle cell lymphoma (MCL) presenting in elderly, unfit patients represents a clinical challenge. Front-line 'attenuated' or low-intensity immunochemotherapy is often employed, although outcomes are relatively unexplored. We report outcomes of attenuated immunochemotherapy in 95 patients with MCL across 19 centres in the UK and Ireland considered unfit for full-dose rituximab-bendamustine or rituximab-cyclophosphamide, doxorubicin, vincristine, prednisolone (R-CHOP). Read More

R Soc Open Sci 2021 Mar 3;8(3):201715. Epub 2021 Mar 3.

Biomathematics and Statistics Scotland, James Clerk Maxwell Building, Edinburgh EH9 3FD, UK.

We develop and apply analytically tractable generative models of livestock movements at national scale. These go beyond current models through mechanistic modelling of heterogeneous trade partnership network dynamics and the trade events that occur on them. Linking resulting animal movements to disease transmission between farms yields analytical expressions for the basic reproduction number . Read More

Nat Med 2021 May 6. Epub 2021 May 6.

UCLA Children's Discovery and Innovation Institute, Mattel Children's Hospital UCLA, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

Cystic fibrosis (CF) is a lethal autosomal recessive disorder that afflicts more than 70,000 people. People with CF experience multi-organ dysfunction resulting from aberrant electrolyte transport across polarized epithelia due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF-related lung disease is by far the most important determinant of morbidity and mortality. Read More

Clin Infect Dis 2021 May 6. Epub 2021 May 6.

Division of Healthcare Quality Promotion, US Centers for Disease Control and Prevention, Atlanta, USA.

Introduction: The 2019 coronavirus (COVID-19) pandemic has been an unprecedented global health challenge. Traditional modes of knowledge dissemination have not been feasible. A rapid solution was needed to share guidance and implementation examples among the global Infection Prevention and Control (IPC) community. Read More

Blood Adv 2021 May;5(9):2403-2411

Cellular and Molecular Therapeutics Branch, NHLBI/NIDDK, National Institutes of Health, Bethesda, MD.

Recent studies suggest that plerixafor mobilization and apheresis in patients with sickle cell disease (SCD) is safe and can allow collection of sufficient CD34+ hematopoietic stem cell (HSC) collection for clinical gene therapy applications. However, the quantities of plerixafor-mobilized CD34+ cells vary between different SCD patients for unknown reasons. Twenty-three participants with SCD underwent plerixafor mobilization followed by apheresis, processing, and HSC enrichment under a phase 1 safety and efficacy study conducted at 2 institutions. Read More

JAMA Ophthalmol 2021 May 6. Epub 2021 May 6.

Department of Ophthalmology and Vision Science, University of Arizona, Tucson.

Importance: The Pediatric Eye Disease Investigator Group Cataract Registry provides a multicenter assessment of visual outcomes and complications after lensectomy for traumatic pediatric cataract.

Objective: To report visual acuity (VA) and the cumulative proportion with strabismus, glaucoma, and other ocular complications by 15 months after lensectomy for traumatic cataract among children younger than 13 years at the time of surgery.

Design, Setting, And Participants: From June 18, 2012, to July 8, 2015, 1266 eyes of 994 children from 33 pediatric eye care practices seen within 45 days after lensectomy were enrolled in a multicenter, prospective observational registry. Read More

Sci Rep 2021 May 5;11(1):9560. Epub 2021 May 5.

MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.

Tonne-Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by variants in the gene encoding the E3 ubiquitin ligase gene RLIM, also known as RNF12. Here we report identification of a novel RLIM missense variant, c. Read More

Nat Commun 2021 05 5;12(1):2547. Epub 2021 May 5.

Shanghai Institute for Advanced Immunochemical Studies, ShanghaiTech University, Shanghai, China.

Receptors and their ligands are important therapeutic targets for about one third of marketed drugs. Here, we describe an epitope-guided approach for selection of antibodies that modulate cellular signaling of targeted receptors. We chose CXC chemokine receptor 2 (CXCR2) in the G-protein coupled receptor superfamily as receptor and a CXCR2 N-terminal peptide for antibody selection. Read More

Ann Am Thorac Soc 2021 May 5. Epub 2021 May 5.

University of Michigan, 1259, Ann Arbor, Michigan, United States.

Rationale: Acute hypercapnic respiratory failure has been shown to be associated with worse outcomes for various disease states, but less is known about patients with compensated hypercapnic respiratory failure. Although these patients have a normal pH, it remains unknown whether chronically elevated partial pressures of carbon dioxide (PaCO2), irrespective of etiology, put patients at risk of adverse events.

Objectives: To understand the burden of and clinical factors associated with morbidity and mortality in patients with compensated hypercapnic respiratory failure. Read More

Age Ageing 2021 05;50(3):617-630

Introduction: Increased mortality has been demonstrated in older adults with coronavirus disease 2019 (COVID-19), but the effect of frailty has been unclear.

Methods: This multi-centre cohort study involved patients aged 18 years and older hospitalised with COVID-19, using routinely collected data. We used Cox regression analysis to assess the impact of age, frailty and delirium on the risk of inpatient mortality, adjusting for sex, illness severity, inflammation and co-morbidities. Read More

Elife 2021 May 5;10. Epub 2021 May 5.

Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

In vivo function of CDK5 and Abl enzyme substrate 2 (Cables2), belonging to the Cables protein family, is unknown. Here, we found that targeted disruption of the entire locus () caused growth retardation and enhanced apoptosis at the gastrulation stage and then induced embryonic lethality in mice. Comparative transcriptome analysis revealed disruption of , 50% down-regulation of abutting on the locus, and up-regulation of p53-target genes in gastrulas. Read More

Brain Behav 2021 May 5:e02168. Epub 2021 May 5.

Department of Neurology, The first affiliated hospital, School of Clinical Medicine of Guangdong Pharmaceutical University, Guangzhou, China.

Background: Wilson's disease (WD) is one of the few hereditary diseases that can be successfully treated with medicines. We conduct this survey research to assess treatment persistence among patients with WD and try to identify what factors affect the treatment persistence.

Methods: We employed WeChat which is the most popular social software in China to carry out this anonymous questionnaire research. Read More

Br J Gen Pract 2021 Jan 20. Epub 2021 Jan 20.

Centre for Medicine Use and Safety, Faculty of Pharmacy and Pharmaceutical Sciences.

Background: GPs have limited capacity to routinely provide smoking cessation support. New strategies are needed to reach all smokers within this setting.

Aim: To evaluate the effect of a pharmacist-coordinated interdisciplinary smoking cessation intervention delivered in Australian general practice. Read More

Biomolecules 2021 04 29;11(5). Epub 2021 Apr 29.

Department of Parasitology, Noguchi Memorial Institute for Medical Research, College of Health Sciences, University of Ghana, Legon, Accra P.O. Box LG 581, Ghana.

Severely ill coronavirus disease 2019 (COVID-19) patients show elevated concentrations of pro-inflammatory cytokines, a situation commonly known as a cytokine storm. The p38 MAPK receptor is considered a plausible therapeutic target because of its involvement in the platelet activation processes leading to inflammation. This study aimed to identify potential natural product-derived inhibitory molecules against the p38α MAPK receptor to mitigate the eliciting of pro-inflammatory cytokines using computational techniques. Read More

Am J Perinatol 2021 May 4. Epub 2021 May 4.

Department of Cardiology, TriHealth Heart Institute, TriHealth-Good Samaritan Hospital, Cincinnati, Ohio.

Objective: Few obstetric-specific guidelines detail the indications for screening echocardiography in pregnancy. The objective of the study is to examine the association of common indications for maternal echocardiography with the likelihood of abnormality identification, pregnancy management alteration, and conformity with current American College of Cardiology Foundation (ACCF) guidelines.

Study Design:  This retrospective cohort analysis categorized all echocardiograms performed within pregnancy and the first month postpartum within a tertiary health system to correlate indications with abnormal findings. Read More

Fetal Pediatr Pathol 2021 May 4:1-10. Epub 2021 May 4.

Department of Clinical Biochemistry, Medical Faculty, Yildirim Beyazit University, Ankara, Turkey.

Background: The aim of the present study was to assess thiol/disulfide homeostasis (TDH) parameters and ischemia-modified albumin (IMA) levels in children with Wilson Disease (WD) and to compare them to healthy controls. Based on the inclusion and exclusion criteria, fifteen children with WD and twenty-nine healthy children were enrolled, and serum thiol/disulfide and IMA levels were compared between groups. The mean values of native and total thiols were significantly lower in the WD group than in the control group. Read More

Dev Neurobiol 2021 May 3. Epub 2021 May 3.

Department of Biomedical Engineering Sciences, School of Medicine, Loma Linda University, Loma Linda, CA, USA.

Oxidative stress (OS) is one of the most significant propagators of systemic damage with implications for widespread pathologies such as vascular disease, accelerated aging, degenerative disease, inflammation, and traumatic injury. OS can be induced by numerous factors such as environmental conditions, lifestyle choices, disease states, and genetic susceptibility. It is tied to the accumulation of free radicals, mitochondrial dysfunction, and insufficient antioxidant protection, which leads to cell aging and tissue degeneration over time. Read More

Genet Med 2021 May 3. Epub 2021 May 3.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the "warning signals" to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2-7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Read More

Am J Med 2021 Apr 30. Epub 2021 Apr 30.

Department of Pharmacotherapy and Translational Research, University of Florida College of Pharmacy, Gainesville, FL. Electronic address:

In 2020, the US Food and Drug Administration (FDA) approved 53 novel drugs. Thirty six of the 53 (68%) novel drug approvals were reviewed and approved through an expedited review pathway while 31 of the 53 (58%) were approved for treatment of a rare disease. This review includes a summary of the novel drugs approved by the FDA in 2020. Read More

Cureus 2021 Mar 29;13(3):e14180. Epub 2021 Mar 29.

Internal Medicine, University of Texas Health Science Center at Houston, Houston, USA.

Due to the infrequently reported location, malignancies of the ear are usually misdiagnosed at the time of first presentation. To the best of our knowledge, there have been no reports in literature regarding diffuse large B-cell lymphoma (DLBCL) presenting as an ear mass, as was seen in our patient. We describe a case of a 38-year-old gentleman who presented with four months of worsening dyspnea on exertion and nonproductive cough. Read More

Front Pharmacol 2021 15;12:622268. Epub 2021 Apr 15.

Department of Pharmacy, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.

Gan-Dou-Fu-Mu decoction (GDFMD) improves liver fibrosis in experimental and clinical studies including those on toxic mouse model of Wilson disease (Model). However, the mechanisms underlying the effect of GDFMD have not been characterized. Herein, we deciphered the potential therapeutic targets of GDFMD using transcriptome analysis. Read More

J Alzheimers Dis 2021 Apr 28. Epub 2021 Apr 28.

Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.

Background: Self-reported discrimination is a source of psychosocial stress that has been previously associated with poor cognitive function in older African Americans without dementia.

Objective: Here, we examine the association of discrimination with dementia and cognitive impairment in racially diverse older Brazilians.

Methods: We included 899 participants 65 years or older (34. Read More

Environ Health Perspect 2021 Apr 30;129(4):47013. Epub 2021 Apr 30.

Laboratory of Environmental Chemistry and Toxicology, Department of Environmental Health Sciences, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.

Background: Humans are exposed to tens of thousands of chemical substances that need to be assessed for their potential toxicity. Acute systemic toxicity testing serves as the basis for regulatory hazard classification, labeling, and risk management. However, it is cost- and time-prohibitive to evaluate all new and existing chemicals using traditional rodent acute toxicity tests. Read More