132 results match your criteria: "  University College London[Affiliation]"

Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Neurol Genet

December 2024

From the Division of Neurology (A.H.T., S.-Y.L.), Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Programa de Pós-Graduação em Ciências Médicas da Universidade Federal do Rio Grande do Sul (P.S.-A.), Clínica Santa María, Santiago, Chile; Departamento de Farmacologia (A.F.S.S.), Universidade Federal do Rio Grande do Sul; Serviço de Neurologia (A.F.S.S.), Hospital de Clínicas de Porto Alegre, Brazil; Institute of Neurogenetics (H.M., M.L.D., C.K.), University of Lübeck, Germany; Department of Biomedical Science (A.A.-A.), Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Michael J. Fox Foundation for Parkinson's Research (J.S., B.F.), New York; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neuroscience and Brain Health (M.L.D.), Metropolitan Medical Center, Manila, Philippines; Centre for Preventive Neurology (S.D., M.T.P., A.J.N.), Wolfson Institute of Population Health, Queen Mary University of London, United Kingdom; Unidad de Trastornos del Movimiento (M.T.P.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Laboratory of Neurogenetics (M.B.M.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.B.M., H.R.M.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (R.N.A.), Columbia University Irving Medical Center, New York; Movement Disorders Division (R.N.A.), Neurological Institute, Tel Aviv Sourasky Medical Center and Tel Aviv School of Medicine, Tel Aviv University, Israel; Molecular Medicine Laboratory and Neurology Department (K.R.K.), Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney; Translational Neurogenomics Group (K.R.K.), Genomic and Inherited Disease Program, Garvan Institute of Medical Research; and St Vincent's Healthcare Campus (K.R.K.), Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

View Article and Find Full Text PDF

Amyloid-PET quantification through the tracer-independent Centiloid (CL) scale has emerged as an essential tool for the accurate measurement of amyloid-β (Aβ) pathology in Alzheimer's disease (AD) patients. The AMYPAD consortium set out to integrate existing literature and recent work from the consortium to provide clinical context-of-use recommendations for the CL scale. Compared to histopathology, visual reads, and cerebrospinal fluid, CL quantification accurately reflects the amount of AD pathology.

View Article and Find Full Text PDF
Article Synopsis
  • Prostate cancer treatment resistance is a major challenge, with genomic studies revealing how cancer cells evade therapies, yet the tumor microenvironment's (TME) role remains unclear.
  • A study using advanced techniques on samples from 120 patients offers a detailed transcriptomic profile of the prostate TME throughout the treatment process.
  • The research highlights a unique cell type called club-like cells that interact with the immune system, suggesting their involvement in inflammation and resistance to androgen deprivation therapy, indicating they could be potential targets for new treatments.
View Article and Find Full Text PDF
Article Synopsis
  • Knowledge of the genetic factors contributing to Parkinson's disease has significantly expanded, starting from the identification of the first mutation in α-synuclein to discovering various other related genes.
  • Genetic research helps understand the diverse symptoms of Parkinson's disease and promotes the search for new biomarkers and treatment options, with several clinical trials in progress.
  • Efforts to include previously under-represented populations in genetic studies are fostering collaboration and promising new insights, although challenges persist, offering opportunities for a more comprehensive understanding of the disease worldwide.
View Article and Find Full Text PDF

In this case report, we present the treatment outcomes of the first patient enrolled in the LuDO-N trial. The patient is a 21-month-old girl diagnosed with high-risk neuroblastoma (NB) and widespread skeletal metastasis. The patient initially underwent first-line therapy according to SIOPEN HRNBL-1 but was switched to second-line treatments due to disease progression, and she was finally screened for enrollment in the LuDO-N trial due to refractory disease.

View Article and Find Full Text PDF

The role of dysbiotic gut mycobiota in modulating risk for abdominal aortic aneurysm.

Microbiol Spectr

November 2024

State Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Department of Cardiology, Qilu Hospital of Shandong University, Jinan, China.

Unlabelled: Abdominal aortic aneurysm (AAA) is a large-vessel disease with high mortality, characterized by complex pathogenic mechanisms. Current therapeutic approaches remain insufficient to halt its progression. Fungi are important members of the gut microbiota.

View Article and Find Full Text PDF
Article Synopsis
  • The CheckMate 914 trial investigated the effectiveness of adjuvant nivolumab monotherapy compared to placebo in patients with localized renal cell carcinoma (RCC) at high risk of recurrence after surgery.
  • Despite enrolling 825 patients, the results showed that nivolumab did not significantly improve disease-free survival (DFS) compared to placebo.
  • Additionally, safety data indicated that adverse events were reported at different rates among the treatment groups, but overall, the trial did not achieve its primary goal of improved DFS for nivolumab.
View Article and Find Full Text PDF

Cerebrovascular and Alzheimer's disease biomarkers in dementia with Lewy bodies and other dementias.

Brain Commun

August 2024

Division of Clinical Geriatrics, Center for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, 171 77 Stockholm, Sweden.

Article Synopsis
  • The study examines the prevalence of cerebrovascular and Alzheimer's disease co-pathologies in patients with dementia with Lewy bodies against various other cognitive states, including mild cognitive impairment and Alzheimer's disease.
  • A multi-cohort dataset of 4,549 participants was analyzed, revealing that 43% of dementia with Lewy bodies patients had a high load of white matter hyperintensities, indicating a significant difference compared to other groups.
  • Findings showed that white matter hyperintensities in dementia with Lewy bodies correlate with medial temporal atrophy, suggesting that the impact of these co-pathologies is particularly pronounced in this group compared to others.
View Article and Find Full Text PDF

Background: Selumetinib is the first approved treatment for pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic, inoperable plexiform neurofibromas (PN) in the EU and US, as well as in multiple other countries. Evidence for the management of selumetinib-associated adverse events (AEs) is mostly limited to clinical trials and expanded-access programs. We gathered a panel of European healthcare practitioners with clinical experience prescribing selumetinib and/or managing pediatric patients with NF1-PN to provide recommendations on the prevention and management of AEs.

View Article and Find Full Text PDF
Article Synopsis
  • Six-monthly ultrasound screenings for liver cancer are important for patients with cirrhosis, but many do not participate in these checks, despite the benefits in early detection and survival.
  • Researchers used the COM-B model and worked with patients and advocacy groups to find out why people avoid these screenings and to create new invitations and information materials to encourage participation.
  • Key barriers identified included fear of serious illness and stigma from healthcare providers; the developed materials aim to be supportive and informative to help overcome these challenges.
View Article and Find Full Text PDF

Objectives: The aim of this research was to identify patient barriers and facilitators of abdominal aortic aneurysm (AAA) screening in London.

Methods: A survey was distributed to 4211 adults, who had been invited for AAA screening in 2023. Barriers and facilitators were identified by comparing responses between attenders and non-attenders, using univariate logistic regression.

View Article and Find Full Text PDF

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Nat Rev Endocrinol

December 2024

Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates how specific immune cell types in blood samples from patients with metastatic castration-resistant prostate cancer (mCRPC) can affect survival rates.
  • Researchers analyzed pre-treatment blood samples from 152 patients and found that lower CD8 T-cell counts and higher monocyte levels were linked to shorter survival.
  • Their results suggest that these immune cell types could act as important biomarkers for mCRPC management, supporting the need for further research in clinical trials.
View Article and Find Full Text PDF

Purpose: To provide practice guideline/procedure standards for diagnostics and therapy (theranostics) of meningiomas using radiolabeled somatostatin receptor (SSTR) ligands.

Methods: This joint practice guideline/procedure standard was collaboratively developed by the European Association of Nuclear Medicine (EANM), the Society of Nuclear Medicine and Molecular Imaging (SNMMI), the European Association of Neurooncology (EANO), and the PET task force of the Response Assessment in Neurooncology Working Group (PET/RANO).

Results: Positron emission tomography (PET) using somatostatin receptor (SSTR) ligands can detect meningioma tissue with high sensitivity and specificity and may provide clinically relevant information beyond that obtained from structural magnetic resonance imaging (MRI) or computed tomography (CT) imaging alone.

View Article and Find Full Text PDF

Background: There is good evidence that elevated amyloid-β (Aβ) positron emission tomography (PET) signal is associated with cognitive decline in clinically normal (CN) individuals. However, it is less well established whether there is an association between the Aβ burden and decline in daily living activities in this population. Moreover, Aβ-PET Centiloids (CL) thresholds that can optimally predict functional decline have not yet been established.

View Article and Find Full Text PDF

Background: Moderately hypofractionated radiotherapy regimens or stereotactic body radiotherapy (SBRT) are standard of care for localised prostate cancer. However, some patients are unable or unwilling to travel daily to the radiotherapy department and do not have access to, or are not candidates for, SBRT. For many years, The Royal Marsden Hospital NHS Foundation Trust has offered a weekly ultra-hypofractionated radiotherapy regimen to the prostate (36 Gy in 6 weekly fractions) to patients unable/unwilling to travel daily.

View Article and Find Full Text PDF
Article Synopsis
  • A clinical trial called RADICALS-HD studied the effects of adding short-course androgen deprivation therapy (ADT) to postoperative radiotherapy in patients with localized prostate cancer after surgery.
  • It involved 1480 patients, examining how ADT impacts metastasis-free survival compared to radiotherapy alone, and measured outcomes like distant metastasis and overall survival.
  • The trial aimed to see if combining ADT with radiotherapy could improve the 10-year metastasis-free survival rate, potentially increasing it from 80% to 86%.
View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the effectiveness and optimal duration of androgen deprivation therapy (ADT) combined with postoperative radiotherapy for patients with localized prostate cancer following radical prostatectomy.
  • A randomised controlled trial, RADICALS-HD, compared short-course ADT (6 months) to long-course ADT (24 months) among participants who met specific criteria, including PSA levels and absence of metastatic disease.
  • The primary outcome measured was metastasis-free survival, with the trial aiming to determine if longer ADT duration leads to better survival rates, involving over 1,500 patients from 2008 to 2015.
View Article and Find Full Text PDF

Background: Immune checkpoint inhibitors (ICIs) improve overall survival (OS) in advanced/metastatic urothelial cancer (a/mUC) patients. Preliminary evidence suggests a prognostic role of inflammatory biomarkers in this setting. We aimed to develop a disease-specific prognostic inflammatory index for a/mUC patients on ICIs.

View Article and Find Full Text PDF

Peripheral arterial disease (PAD) and abdominal aortic aneurysms (AAAs) often coexist and pose significant risks of mortality, yet their mutual interactions remain largely unexplored. Here, we introduce a fluid mechanics model designed to simulate the haemodynamic impact of PAD on AAA-associated risk factors. Our focus lies on quantifying the uncertainty inherent in controlling the flow rates within PAD-affected vessels and predicting AAA risk factors derived from wall shear stress.

View Article and Find Full Text PDF

Background: The optimal timing of radiotherapy (RT) after radical prostatectomy for prostate cancer has been uncertain. RADICALS-RT compared efficacy and safety of adjuvant RT versus an observation policy with salvage RT for prostate-specific antigen (PSA) failure.

Patients And Methods: RADICALS-RT was a randomised controlled trial enrolling patients with ≥1 risk factor (pT3/4, Gleason 7-10, positive margins, preoperative PSA≥10 ng/ml) for recurrence after radical prostatectomy.

View Article and Find Full Text PDF

Introduction: To support clinical trial designs focused on early interventions, our study determined reliable early amyloid-β (Aβ) accumulation based on Centiloids (CL) in pre-dementia populations.

Methods: A total of 1032 participants from the Amyloid Imaging to Prevent Alzheimer's Disease-Prognostic and Natural History Study (AMYPAD-PNHS) and Insight46 who underwent [F]flutemetamol, [F]florbetaben or [F]florbetapir amyloid-PET were included. A normative strategy was used to define reliable accumulation by estimating the 95 percentile of longitudinal measurements in sub-populations (N = 101/750, N = 35/382) expected to remain stable over time.

View Article and Find Full Text PDF