5,252,902 results match your criteria disease

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.

Neurology 2022 May 26. Epub 2022 May 26.

Friedrich-Baur-Institut, Department of Neurology Klinikum München, München, Germany.

Background And Objectives: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen accumulation. Avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy designed for increased cellular uptake and glycogen clearance, has been studied for long-term efficacy and safety in patients with late-onset Pompe disease (LOPD). Here we report up to 6. Read More

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Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium.

Neurology 2022 May 26. Epub 2022 May 26.

Sorbonne Université (SU) Unité Mixte de Recherche (UMR) 1127, INSERM U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

Background And Objectives: Considerable heterogeneity exists in the literature concerning genetic determinants of the age of onset (AAO) of Parkinson's disease (PD), which could be attributed to lack of well-powered replication cohorts. The previous largest GWAS identified nd loci on chromosome (Chr) 4 with a significant influence on AAO of PD, these have not been independently replicated. The present study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. Read More

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Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease? The Jury Is Still Out.

Neurology 2022 May 26. Epub 2022 May 26.

Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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Association of Nonalcoholic Fatty Liver Disease and Fibrosis With Incident Dementia and Cognition: The Rotterdam Study.

Neurology 2022 May 26. Epub 2022 May 26.

Department of Epidemiology Erasmus MC university medical center, Rotterdam, The Netherlands

Background: & Objectives: Non-alcoholic fatty liver disease (NAFLD) might affect brain health, via the so-called liver-brain axis. Whether this results in increased risk for dementia remains unclear. Therefore, we investigated the association of NAFLD and fibrosis with incident dementia and cognition among the elderly. Read More

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Pragmatic, Data-Driven Method to Determine Cutoffs for CSF Biomarkers of Alzheimer Disease Based on Validation Against PET Imaging.

Neurology 2022 May 26. Epub 2022 May 26.

Cognitive Neurology Center, Lariboisiere - Fernand Widal Hospital, AP-HP, Université de Paris, Paris, France.

Objective: To elaborate a new algorithm to establish a standardized method to define cuff-offs for CSF biomarkers of Alzheimer's disease (AD) by validating the algorithm against CSF classification derived from PET imaging.

Methods: Low and high levels of CSF phosphorylated tau were first identified to establish optimal cut-offs for CSF amyloid-β peptide (Aβ) biomarkers. These Aβ cut-offs were then used to determine cut-offs for CSF tau and phosphorylated tau markers. Read More

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Non-Alcoholic Fatty Liver Disease: Does This Metabolic Condition Have Brain Function Sequelae?

Neurology 2022 May 26. Epub 2022 May 26.

Laboratory of Epidemiology and Population Sciences, National Institute on Aging, NIA/NIH/IRP, Baltimore, MD.

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Microinfarcts in the Deep Gray Matter on 7T MRI: Risk Factors, MRI Correlates, and Relation to Cognitive Functioning-The SMART-MR Study.

AJNR Am J Neuroradiol 2022 May 26. Epub 2022 May 26.

Julius Center for Health Sciences and Primary Care (R.G., I.R., M.I.G.)

Background And Purpose: The clinical relevance of cortical microinfarcts has recently been established; however, studies on microinfarcts in the deep gray matter are lacking. We examined the risk factors and MR imaging correlates of microinfarcts in the deep gray matter on 7T MR imaging and their relation to cognitive functioning.

Materials And Methods: Within the Second Manifestations of ARTerial disease-Magnetic Resonance (SMART-MR) study, 213 patients (mean age, 68 [SD, 8] years) had a risk-factor assessment, 7T and 1. Read More

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Berberine protects diabetic nephropathy by suppressing epithelial-to-mesenchymal transition involving the inactivation of the NLRP3 inflammasome.

Ren Fail 2022 Dec;44(1):923-932

NHC Key Laboratory of Hormones and Development, Tianjin Key Laboratory of Metabolic Diseases, Chu Hsien-I Memorial Hospital & Tianjin Institute of Endocrinology, Tianjin Medical University, Tianjin.

Accumulating evidence has implicated that berberine (BBR) has a beneficial effect on diabetic kidney disease (DKD), but its mechanism is not clear. The aim of this study was to assess whether berberine could alleviate tubulointerstitial fibrosis and attenuate epithelial-to-mesenchymal transition (EMT) and its possible molecular mechanism. High-fat diet (HFD) followed by injection of STZ was used to induce diabetic rats . Read More

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December 2022

Pro- and anti-fibrotic effects of vascular endothelial growth factor in chronic kidney diseases.

Ren Fail 2022 Dec;44(1):881-892

Department of Nephrology, The First Hospital of Jilin University, Changchun, People's Republic of China.

Renal fibrosis is the inevitable common end-point of all progressive chronic kidney diseases. The underlying mechanisms of renal fibrosis are complex, and currently there is no effective therapy against renal fibrosis. Renal microvascular rarefaction contributes to the progression of renal fibrosis; however, an imbalance between proangiogenic and antiangiogenic factors leads to the loss of renal microvasculature. Read More

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December 2022

What's New in the Management of Neonatal Early-Onset Sepsis?

Arch Dis Child Fetal Neonatal Ed 2022 May 26. Epub 2022 May 26.

Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA

The expert guidelines highlighted in this review provide an evidence-based framework for approaching at-risk infants and allow for a more limited and standardised approach to antibiotic use. While these guidelines have significantly reduced antibiotic utilisation worldwide, optimally each unit would individualise their approach to early onset sepsis (EOS) based on the neonatal population they serve and available resources. As advancements in EOS research continue and limitations with sepsis prediction tools are addressed, it is inevitable that our risk stratification and management guidelines will become more precise. Read More

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The Complement System in the Modern Era of Kidney Transplantation: Mechanisms of Injury and Targeted Therapies.

Semin Nephrol 2022 Jan;42(1):14-28

Division of Nephrology, Department of Medicine, Boston University School of Medicine, Boston, MA. Electronic address:

Kidney transplantation remains the treatment of choice for patients with end-stage kidney disease. Significant progress has been made over the course of many years to improve both patient and graft outcomes after transplant. Modern immunosuppressive therapy has reduced the rate of acute rejection and resulted in excellent short- and long-term graft survival. Read More

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January 2022

Prevalence of depression and anxiety and their predictors among patients undergoing maintenance hemodialysis in Northern China: a cross-sectional study.

Ren Fail 2022 Dec;44(1):933-944

Department of Nephrology, the Attached Hospital of Inner Mongolia Medical University, Hohhot, China.

Objective: To investigate the prevalence of depression and anxiety in patients undergoing maintenance hemodialysis (MHD) in Hohhot, a large city on the northern border of China, and to identify independent risk factors for depression and anxiety in these patients.

Methods: Patients receiving MHD for >3 months were enrolled in the four largest hemodialysis centers between September 2020 and December 2020. Depression and anxiety were assessed using the Zung self-rated depression scale (SDS) and Zung self-rated anxiety scale (SAS), respectively, with demographic and other data collected for logistic regression analyses. Read More

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December 2022

Call for Formalized Pathways in Vascular Medicine Training: JACC Review Topic of the Week.

J Am Coll Cardiol 2022 May;79(21):2129-2139

Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

The burden of vascular diseases and complexity of their management have been growing. Vascular medicine specialists may help to bridge gaps in care, especially as part of multidisciplinary teams. However, there is a limited number of vascular medicine specialists because of constraints in training. Read More

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Becoming a Parent During Cardiovascular Training.

J Am Coll Cardiol 2022 May;79(21):2119-2126

Division of Cardiovascular Medicine, University of Florida College of Medicine, Malcom Randall VA Medical Center, Gainesville, Florida, USA.

Background: Specialty training in cardiovascular diseases is consistently perceived to have adverse job conditions and interfere with family life. There is a dearth of universal workforce support for trainees who become parents during training.

Objectives: This study sought to identify parental policies across cardiovascular training programs internationally. Read More

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Circadian Cadence and NR1D1 Tune Cardiovascular Disease.

J Am Coll Cardiol 2022 May;79(21):2116-2118

Cardiovascular Research Institute and the Department of Medicine, Cardiology, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: https://twitter.com/Cam_phd.

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Disruption of Circadian Rhythms by Shift Work Exacerbates Reperfusion Injury in Myocardial Infarction.

J Am Coll Cardiol 2022 May;79(21):2097-2115

State Key Laboratory for Oncogenes and Related Genes, Division of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Cancer Institute, Shanghai, China. Electronic address:

Background: Shift work is associated with increased risk of acute myocardial infarction (AMI) and worsened prognosis. However, the mechanisms linking shift work and worsened prognosis in AMI remain unclear.

Objectives: This study sought to investigate the impact of shift work on reperfusion injury, a major determinant of clinical outcomes in AMI. Read More

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Genetically Triggered Aortic Disease Outcomes: On the Long Road to Personalized Medicine.

J Am Coll Cardiol 2022 May;79(21):2082-2084

Departament de Cardiologia, Hospital Vall d'Hebron, CIBERCV, Universitat Autonoma de Barcelona, Barcelona, Spain.

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Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.

J Am Coll Cardiol 2022 May;79(21):2069-2081

Division of Cardiology, Weill Cornell Medicine, New York, New York, USA.

Background: The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016.

Objectives: The purpose of this study was to compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery, and cardiovascular mortality among aortopathy etiologies.

Methods: The GenTAC study had a retrospective/prospective design. Read More

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Fracture Risk of Sodium-Glucose Cotransporter-2 Inhibitors in Chronic Kidney Disease.

Clin J Am Soc Nephrol 2022 May 26. Epub 2022 May 26.

Institute for Clinical and Evaluative Sciences (ICES), London, Ontario, Canada.

Background And Objectives: Sodium-glucose cotransporter-2 (SGLT2) inhibitors have been associated with a higher risk of skeletal fractures in some randomized, placebo-controlled trials. Secondary hyperparathyroidism and increased bone turnover (also common in CKD) may contribute to the observed fracture risk. We aimed to determine if SGLT2 inhibitor use associates with a higher risk of fractures compared with dipeptidyl peptidase-4 (DPP-4) inhibitors, which have no known association with fracture risk. Read More

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Safety of SGLT2 Inhibitors in CKD: Walking the Fine Line.

Mirela Dobre

Clin J Am Soc Nephrol 2022 May 26. Epub 2022 May 26.

Division of Nephrology and Hypertension, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, Ohio

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Painful bullae in a febrile woman: a clue to first presentation of multibacillary Hansen's disease.

BMJ Case Rep 2022 May 26;15(5). Epub 2022 May 26.

Department of Dermatology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

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Randomised controlled monocentric trial to compare the impact of using professional actors or peers for communication training in a competency-based inverted biochemistry classroom in preclinical medical education.

BMJ Open 2022 May 26;12(5):e050823. Epub 2022 May 26.

Institute of Biochemistry and Molecular Biolog, Ulm University, Ulm, Germany

Objective: In medical education, biochemistry topics are usually knowledge based, and students often are unaware of their clinical relevance. To improve students' awareness of the relevance, we integrated communication skills training into biochemistry education. No studies before have examined the difference between peer and standardised patient (SP) role plays where students explain the biochemical background of a disease in patient-centred language. Read More

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Remote versus face-to-face home-based exercise programme in people with amyotrophic lateral sclerosis: protocol for a randomised clinical trial.

BMJ Open 2022 May 26;12(5):e056323. Epub 2022 May 26.

Department of Physical Therapy, Federal University of Rio Grande do Norte, Natal, Brazil.

Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease with variable and complex clinical manifestations that requires a multidisciplinary approach. However, face-to-face treatment in this population may experience barriers, such as difficulty accessing physical therapists or other professionals. As a result, strategies (eg, telerehabilitation) emerged to facilitate treatment and physical therapy monitoring. Read More

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Unique role for lncRNA HOTAIR in defining depot-specific gene expression patterns in human adipose-derived stem cells.

Genes Dev 2022 May 26. Epub 2022 May 26.

Division of Diabetes Endocrinology and Metabolism, Johns Hopkins University School of Medicine; Institute for Fundamental Biomedical Research, Johns Hopkins All Children's Hospital, St. Petersburg, Florida 33701, USA.

Accumulation of fat above the waist is an important risk factor in developing obesity-related comorbidities independently of BMI or total fat mass. Deciphering the gene regulatory programs of the adipose tissue precursor cells within upper body or abdominal (ABD) and lower body or gluteofemoral (GF) depots is important to understand their differential capacity for lipid accumulation, maturation, and disease risk. Previous studies identified the HOX transcript antisense intergenic RNA (HOTAIR) as a GF-specific lncRNA; however, its role in adipose tissue biology is still unclear. Read More

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Trans-inguinal pelvic lymphadenectomy in vulvar cancer patients: TRIPLE pilot study.

Int J Gynecol Cancer 2022 May 26. Epub 2022 May 26.

Dipartimento Universitario Scienze della Vita e Sanità Pubblica - Sezione di Ginecologia ed Ostetricia - Università Cattolica del Sacro Cuore, Rome, Italy.

Objective: The goal of this study was to assess the feasibility and safety of a retrograde extraperitoneal trans-inguinal novel approach to pelvic lymphadenectomy in vulvar cancer patients. The secondary objectives were to assess complications (early and late) and oncological outcomes.

Methods: In this pilot study, all patients referred to our institution from November 2019 to May 2021 were evaluated. Read More

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