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Application of a classifier combining bronchial transcriptomics and chest CT features facilitates the diagnostic evaluation of lung cancer in smokers and non-smokers.

Int J Cancer 2021 May 8. Epub 2021 May 8.

Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Lung cancer screening by computed tomography (CT) reduces mortality but exhibited high false-positive rates. We established a diagnostic classifier combining chest CT features with bronchial transcriptomics. Patients with CT-detected suspected lung cancer were enrolled. Read More

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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Clin Genet 2021 May 8. Epub 2021 May 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain-of-function (GoF) variants in the auto-inhibitory domain cause multiple congenital abnormalities. We herein report five new patients with de novo PPP3CA variants. Read More

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6 Years of Breast Reconstruction in One Center - An Objective Analysis.

Chirurgia (Bucur) 2021 Mar-Apr;116(2 Suppl):98-104

Breast cancer represents the most common type of neoplasm in women around the world. Breast reconstruction following mastectomy has become a demanding procedure in the treatment of patients suffering from breast cancer. Their major role is to improve the quality of life of women, leading to better aesthetic outcomes. Read More

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Pathological Response and Survival after Neoadjuvant Therapy for Her-2 Positive Breast Cancer.

Chirurgia (Bucur) 2021 Mar-Apr;116(2 Suppl):91-97

Pathological complete response (pCR) after neoadjuvant systemic treatment represents a good surrogate marker for the prognosis of Her-2 positive Breast Cancer (BCs). The results improved after adding anti-Her-2 therapy to chemotherapy in neoadjuvant setting. Our retrospective study enrolled a cohort of 56 invasive Her-2 positive non-metastatic BCs treated with neoadjuvant systemic therapy between 2001 and 2018. Read More

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Contralateral Prophylactic Mastectomy in Patients with Breast Cancer.

Chirurgia (Bucur) 2021 Mar-Apr;116(2 Suppl):73-83

The rate of contralateral prophylactic mastectomy (CPM) increased within the recent years. The main reasons are: genetic testing, availability of breast reconstruction, more often use of preoperative breast MRI, improvement of postoperative aesthetic results and reimbursement of breast reconstruction. The purpose of this study was to analyze the indication of CPM, it's evolution and the surgical techniques used for this type of surgery. Read More

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Validation of a quantitative systems pharmacology model of calcium homeostasis using elagolix Phase 3 clinical trial data in women with endometriosis.

Clin Transl Sci 2021 May 7. Epub 2021 May 7.

Clinical Pharmacology and Pharmacometrics, AbbVie Inc, North Chicago, Illinois, USA.

Elagolix is a novel, oral gonadotropin-releasing hormone receptor antagonist indicated for the management of moderate to severe pain associated with endometriosis and heavy menstrual bleeding associated with uterine fibroids. Consistent with its mechanism of action, elagolix exhibited dose-dependent suppression of estradiol (E2) in clinical studies. A dose-response model that describes the relationship between elagolix dosages and average E2 levels was combined with a previously published quantitative systems pharmacology (QSP) model of calcium homeostasis to predict bone mineral density (BMD) changes during and following elagolix treatment. Read More

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Framework Fracture of Zirconia Supported Full Arch Implant Rehabilitation: A Retrospective Evaluation of Cantilever Length and Distal Cross-Sectional Connection Area in 140 Patients Over an Up-To-7 Year Follow-Up Period.

J Prosthodont 2021 May 8. Epub 2021 May 8.

Freelance statistician, Ferrara, Italy.

Purpose: To evaluate the relationship between different dimensional parameters in implant-supported monolithic zirconia fixed complete dental prostheses (IFCDPs) and the incidence of framework fracture in a large sample of cases in-vivo.

Materials And Methods: This retrospective observational study evaluated all patients rehabilitated with screw-retained zirconia IFCDPs between January 2013 and April 2019 at a private practice. The minimum follow-up period was 1 year after occlusal loading. Read More

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STARS overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways.

Exp Physiol 2021 May 7. Epub 2021 May 7.

Institute for Physical Activity and Nutrition (IPAN), School of Exercise and Nutrition Sciences, Deakin University, Geelong, Australia.

New Findings: What is the central question of this study? Striated Muscle activator of Rho signalling (STARS) is an actin-binding protein that regulates transcriptional pathways controlling muscle function, growth and myogenesis; processes impaired in dystrophic muscle. Regulation of the STARS pathway in Duchenne muscular dystrophy (DMD is unknown. What is the main finding and its importance? Members of the STARS signalling pathway are reduced in the quadriceps of patients with DMD and in mouse models of muscular dystrophy. Read More

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RT-PCR/MALDI-TOF mass spectrometry-based detection of SARS-CoV-2 in saliva specimens.

J Med Virol 2021 May 8. Epub 2021 May 8.

Department of Pathology, Molecular, and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

As severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections continue, there is a substantial need for cost-effective and large-scale testing that utilizes specimens that can be readily collected from both symptomatic and asymptomatic individuals in various community settings. Although multiple diagnostic methods utilize nasopharyngeal specimens, saliva specimens represent an attractive alternative as they can rapidly and safely be collected from different populations. While saliva has been described as an acceptable clinical matrix for detection of SARS-CoV-2, evaluations of analytic performance across platforms for this specimen type are limited. Read More

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Nonfunctional adrenal adenomas and impaired glucose metabolism: a systematic review and meta-analysis.

Endocrine 2021 May 7. Epub 2021 May 7.

First Department of Internal Medicine, Unit of Endocrinology, Laiko Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Purpose: Evidence on nonfunctioning adrenal incidentaloma's (NFAI) associated comorbidities and in particular, glucose disorders, is unclear in contrast to adrenal tumors with mild autonomous cortisol secretion. The current systematic review and meta-analysis aimed to assess the burden of impaired glucose metabolism including diabetes mellitus type 2 (T2DM), fasting blood glucose (FBG), and fasting blood insulin (FBI) levels in patients with NFAI and 1-mg overnight dexamethasone suppression test (ODST) ≤ 1.8 μg/dl across published studies. Read More

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Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents.

Curr Atheroscler Rep 2021 May 8;23(6):30. Epub 2021 May 8.

Department of Molecular Medicine, Lipid Clinic and Atherosclerosis Prevention Centre, Immunohematology and Transfusion Medicine, Regional Centre for Rare Diseases, Extracorporeal Therapeutic Techniques Unit - Severe Genetic Dyslipidemias, Umberto I Hospital, 'Sapienza' University of Rome, Rome, Italy.

Purpose Of Review: To elucidate the current approach of care in pediatric patients with familial hypercholesterolemia (FH). We sought an answer to the question whether the advances and major changes in lipid management are relevant and apply to children and adolescents.

Recent Findings: Latest research findings clearly demonstrate that lowering cholesterol levels at a young age prevents vascular atherosclerotic changes and decreases cardiovascular events in adulthood and emphasizes the importance of early detection and intervention in the pediatric FH patients group. Read More

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The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.

Fam Cancer 2021 May 8. Epub 2021 May 8.

Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.

Women with neurofibromatosis type 1 (NF1) have an increased risk of developing early breast cancer with a poorer prognosis compared to the general population. Therefore, international management guidelines recommend regular screening in women with NF1 starting from 30 to 35 years. As the psychological impacts of breast cancer screening in other high-risk populations cannot be extended to women with NF1, due to increased incidence of cognitive and mental health issues, the psychological harms of breast screening in women with NF1 are unknown. Read More

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The impact of gender, age, race/ethnicity, and stage on quality of life in a spectrum of cutaneous lymphomas.

Support Care Cancer 2021 May 7. Epub 2021 May 7.

Division of Dermatology, City of Hope, Duarte, USA.

Purpose: Cutaneous lymphomas (CLs) are a group of rare, potentially disfiguring and disabling cancers that can have a significant impact on quality of life (QoL). While previous studies have shown that mycosis fungoides (MF) and Sézary syndrome (SS) impair QoL, the effect of other types of CL on QoL has not been evaluated.

Objective: To determine the impact of disease on QoL in all CL patients and to assess how QoL between the CL sub-types varies by demographic and clinical factors. Read More

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Impact of bioprosthetic valve type on peri-procedural myocardial injury and mortality after transcatheter aortic valve replacement.

Heart Vessels 2021 May 7. Epub 2021 May 7.

DICATOV-Cardiothoracic and Vascular Department, San Martino Hospital, IRCCS for Oncology and Neurosciences, Genoa, Italy.

Peri-procedural myocardial injury (PPMI) is a common complication after transcatheter valve replacement (TAVR), often remaining clinically silent. The role of valve type on PPMI and the association between PPMI and mortality are still unclear. We sought to evaluate predictors and outcome of PPMI after TAVR, and the impact of self-expandable valve (SEV) vs. Read More

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False lumen enhancement characteristics on computed tomography angiography predict risk of aneurysm formation in acute type B aortic dissection.

Interact Cardiovasc Thorac Surg 2021 May 8. Epub 2021 May 8.

Department of Radiology, University of Michigan, Ann Arbor, MI, USA.

Objectives: Differential luminal enhancement [between true lumen (TL) and false lumen (FL)] results from differential flow patterns, most likely due to outflow restriction in the FL. We aimed to assess the impact of differential luminal enhancement at baseline computed tomography angiography on the risk of adverse events in patients with acute type B aortic dissection (TBAD).

Methods: Baseline computed tomography angiographies of patients with acute TBAD between 2007 and 2016 (n = 48) were analysed using three-dimensional software at multiple sites along the descending thoraco-abdominal aorta. Read More

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Association of transport time with adverse outcome in paediatric trauma.

BJS Open 2021 May;5(3)

Department of Clinical Sciences, Paediatrics, Lund University, Lund, Sweden.

Background: It is unclear how the length of prehospital transport time affects outcome in paediatric trauma. This study evaluated the association of transport time from alarm to arrival at hospital with adverse outcome in paediatric trauma patients in Sweden.

Methods: This was a retrospective study based on prospectively collected data from the Swedish trauma registry between 2012 and 2019 of children less than 18 years with major trauma (New Injury Severity Score (NISS) greater than 15). Read More

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Neuroprotective strategies in acute aortic dissection: an analysis of the UK National Adult Cardiac Surgical Audit.

Eur J Cardiothorac Surg 2021 May 8. Epub 2021 May 8.

South Tees Hospitals NHS Trust, Middlesbrough, UK.

Objectives: The risk of brain injury following surgery for type A aortic dissection (TAAD) remains substantial and no consensus has still been reached on which neuroprotective technique should be preferred. We aimed to investigate the association between neuroprotective strategies and clinical outcomes following TAAD repair.

Methods: Using the UK National Adult Cardiac Surgical Audit, we identified 1929 patients undergoing surgery for TAAD (2011-2018). Read More

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PLK1/vimentin signaling facilitates immune escape by recruiting Smad2/3 to PD-L1 promoter in metastatic lung adenocarcinoma.

Cell Death Differ 2021 May 7. Epub 2021 May 7.

Department of Pharmacy, College of Pharmacy, Hanyang University, Ansan, Gyeonggi-do, Korea.

The prerequisite function of vimentin for the epithelial-mesenchymal transition (EMT) is not clearly elucidated yet. Here, we show that vimentin phosphorylated by PLK1, triggers TGF-β-signaling, which consequently leads to metastasis and PD-L1 expression for immune suppression in lung adenocarcinoma. The clinical correlation between expression of both vimentin and PLK1, and overall survival rates of patients was significant in lung adenocarcinoma but not in squamous cell carcinoma. Read More

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Knockout of immunotherapy prognostic marker genes eliminates the effect of the anti-PD-1 treatment.

NPJ Precis Oncol 2021 May 7;5(1):37. Epub 2021 May 7.

Department of Basic Medical Science, School of Medicine, Tsinghua University, Beijing, China.

The efficacy of immunotherapy is largely patient-specific due to heterogeneity in tumors. Combining statistic power from a variety of immunotherapies across cancer types, we found four biological pathways significantly correlated with patient survival following immunotherapy. The expression of immunotherapy prognostic marker genes (IPMGs) in these pathways can predict the patient survival with high accuracy not only in the TCGA cohort (89. Read More

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Detrusor sphincter dyssynergia: can a more specific definition distinguish between patients with and without an underlying neurological disorder?

Spinal Cord 2021 May 7. Epub 2021 May 7.

Department of Neuro-Urology, Balgrist University Hospital, University of Zürich, Zürich, Switzerland.

Study Design: Cross-sectional study.

Objectives: To evaluate if specific definitions of detrusor sphincter dyssynergia (DSD) might distinguish between individuals with spinal cord injury (SCI) and those with no underlying neurological disorder (NO ND).

Setting: Single tertiary university SCI center. Read More

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Applicability of pan-TRK immunohistochemistry for identification of NTRK fusions in lung carcinoma.

Sci Rep 2021 May 7;11(1):9785. Epub 2021 May 7.

Diagnostic and Research Institute of Pathology, Medical University of Graz, Neue Stiftingtalstrasse 6, 8010, Graz, Austria.

In the last two decades, various therapies have been introduced for lung carcinoma patients, including tyrosine-kinase inhibitors for different mutations. While some of them are specific to specific tumor types, others, like NTRK1-3 fusions, are found in various solid tumors. The occurrence of an NTRK1,2 or 3 fusion acts as a biomarker for efficient treatment with NTRK inhibitors, irrespectively of the tumor type. Read More

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Collagen fiber regulation in human pediatric aortic valve development and disease.

Sci Rep 2021 May 7;11(1):9751. Epub 2021 May 7.

Department of Cell and Molecular Pharmacology, MUSC Proteomics Center, Bruker-MUSC Clinical Glycomics Center of Excellence, Medical University of South Carolina, 173 Ashley Ave, BSB358, Charleston, SC, 29425, USA.

Congenital aortic valve stenosis (CAVS) affects up to 10% of the world population without medical therapies to treat the disease. New molecular targets are continually being sought that can halt CAVS progression. Collagen deregulation is a hallmark of CAVS yet remains mostly undefined. Read More

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Identification of an optimal prolactin threshold to determine prolactinoma size using receiver operating characteristic analysis.

Sci Rep 2021 May 7;11(1):9801. Epub 2021 May 7.

Department of Endocrinology ASO/EASO COM, King's College Hospital NHS Foundation Trust, Denmark Hill, London, SE5 9RS, UK.

Prolactinomas represent the most common type of secretory pituitary neoplasms, with a therapeutic management that varies considerably based on tumour size and degree of hyperprolactinemia. The aim of the current study was to evaluate the relationship between serum prolactin (PRL) concentrations and prolactinoma size, and to determine a cut-off PRL value that could differentiate micro- from macro-prolactinomas. A retrospective cohort study of 114 patients diagnosed with prolactinomas between 2007 and 2017 was conducted. Read More

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Spotlight on PSMA as a new theranostic biomarker for bladder cancer.

Sci Rep 2021 May 7;11(1):9777. Epub 2021 May 7.

IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via P. Maroncelli 40, 47014, Meldola, Italy.

Bladder cancer (BCa) patients are diagnosed by cytology and cystoscopy. However, these diagnostic tests bear some limitations. We sought for reliable biomarkers to better determine BCa extension. Read More

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A Review of Recent Research on the Role of MicroRNAs in Renal Cancer.

Med Sci Monit 2021 May 8;27:e930639. Epub 2021 May 8.

Department of Urology, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi, China (mainland).

Renal cell carcinoma (RCC) is a most common type of urologic neoplasms; it accounts for 3% of malignant tumors, with high rates of relapse and mortality. The most common types of renal cancer are clear cell carcinoma (ccRCC), papillary renal cell carcinoma (pRCC), and chromophobe renal carcinoma (chRCC), which account for 90%, 6-15%, and 2-5%, respectively, of all renal malignancies. Although surgical resection, chemotherapy, and radiotherapy are the most common treatment method for those diseases, their effects remain dissatisfactory. Read More

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Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3.

Thorax 2021 May 7. Epub 2021 May 7.

Respiratory and Sleep Medicine, Children's Health Queensland Hospital and Health Service, South Brisbane, Queensland, Australia.

Introduction: Nusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.

Aim: To assess the effects of nusinersen on respiratory function in paediatric SMA during first year of treatment.

Methods: A prospective observational study in paediatric patients with SMA who began receiving nusinersen in Queensland, Australia, from June 2018 to December 2019. Read More

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Prevalence of Venous Thromboembolism Following Acute Spinal Cord Injury in an Urban Inner City Hospital.

Int J Spine Surg 2021 May 7. Epub 2021 May 7.

Temple University Department of Orthopedic Surgery and Sports Medicine, Philadelphia, Pennsylvania.

Background: Venous thromboembolism (VTE) is known to occur at high rates in patients who suffer spinal cord injury (SCI). Large population studies in the United States have shown a prevalence of approximately 4-5%, with some studies suggesting higher prevalence. While the specific mechanism behind increased VTE incidence in the SCI population is unknown, it is likely tied to immobility and functional decline. Read More

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Chronic Low Back Pain Occurring in Association With Hypermobility Spectrum Disorder and Ehlers-Danlos Syndrome.

Int J Spine Surg 2021 May 7. Epub 2021 May 7.

Guy's and St Thomas' Hospitals, London, England.

Background: This review paper outlines recent advances in diagnostic criteria for hypermobility spectrum disorder (HSD) and its association with Ehlers-Danlos syndrome (EDS), as well as current literature on the association between joint hypermobility syndrome and lumbar back pain. We outline the optimal multidisciplinary management of lumbar back pain in the context of joint hypermobility syndrome, as well as the indications and possible side effects of surgical management of patients with these conditions.Several studies have suggested a link between chronic low back pain and hypermobility. Read More

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Possible Correlation Between Kyphosis of Lumbar Osteoporosis Fractures and the Spinal Signal Intensity Ratio (SSIR).

Int J Spine Surg 2021 May 7. Epub 2021 May 7.

Trauma Department, Hannover Medical School (MHH), Lower Saxony, Germany.

Background: The aim of this study was to examine the correlation between the risk of increasing kyphosis as well as collapse of the osteoporotic vertebral body fractures and the intensity of the bone edema in magnetic resonance imaging (MRI) scans. Inclusion criteria included the following: age >18 years and osteoporotic vertebral body fracture grade I-IV according to OF classification. Exclusion criteria included the following: other pathological fractures due to primary tumors or metastasis, OF grade V fractures, and AO type B or C fractures. Read More

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Associations of Diet Quality and All-Cause Mortality Across Levels of Cardiometabolic Health and Disease: A 7.6-Year Prospective Analysis From the Dutch Lifelines Cohort.

Diabetes Care 2021 May 7. Epub 2021 May 7.

Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Objective: To simultaneously investigate the association of diet quality and all-cause mortality in groups with varying cardiometabolic diseases (CMDs) at baseline.

Research Design And Methods: From the population-based Lifelines cohort, 40,892 non-underweight participants aged ≥50 years with data on diet quality and confounding factors were included (enrollment 2006-2013). From food-frequency questionnaire data, tertiles of the Lifelines Diet Score were calculated (T1 = poorest, T3 = best diet quality). Read More

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