Article
Clinical Neurology
Marc P. M. Soutar, Daniela Melandri, Benjamin O'Callaghan, Emily Annuario, Amy E. Monaghan, Natalie J. Welsh, Karishma D'Sa, Sebastian Guelfi, David Zhang, Alan Pittman, Daniah Trabzuni, Anouk H. A. Verboven, Kylie S. Pan, Demis A. Kia, Magda Bictash, Sonia Gandhi, Henry Houlden, Mark R. Cookson, Nael Nadif Kasri, Nicholas W. Wood, Andrew B. Singleton, John Hardy, Paul J. Whiting, Cornelis Blauwendraat, Alexander J. Whitworth, Claudia Manzoni, Mina Ryten, Patrick A. Lewis, Helene Plun-Favreau
Summary: Parkinson's disease is a common and incurable neurodegenerative disease. Genetic variants identified through genome-wide association studies have advanced our understanding of the disease's genetic risk. This study found that KANSL1 and KAT8 are regulators of PINK1-dependent mitophagy and may contribute to idiopathic Parkinson's disease.
Article
Immunology
Candelaria Vergara, Ana Valencia, Chloe L. Thio, James J. Goedert, Alessandra Mangia, Valeria Piazzolla, Eric Johnson, Alex H. Kral, Thomas R. O'Brien, Shruti H. Mehta, Gregory D. Kirk, Arthur Y. Kim, Georg M. Lauer, Raymond T. Chung, Andrea L. Cox, Marion G. Peters, Salim Khakoo, Laurent Alric, Matthew E. Cramp, Sharyne M. Donfield, Brian R. Edlin, Michael P. Busch, Graeme Alexander, Hugo R. Rosen, Edward L. Murphy, Genevieve L. Wojcik, Margaret A. Taub, David L. Thomas, Priya Duggal
Summary: The study identified a male-specific genetic region near the ARL5B gene associated with chronic HCV infection, while suggestive associations were also found near the septin 6 and ribosomal protein L39 genes on the X chromosome. These findings support differential mechanisms of HCV clearance between sexes and provide potential targets for treatment or vaccine development.
JOURNAL OF INFECTIOUS DISEASES
(2021)
Review
Geriatrics & Gerontology
Jaroslaw Dulski, Ryan J. Uitti, Owen A. Ross, Zbigniew K. Wszolek
Summary: The heterogeneity of Parkinson's disease has been recognized for a long time, and its pathophysiological foundations are still unclear. Genetic factors may play a crucial role in understanding the subtypes of Parkinson's disease and successful gene therapy. This review discusses the current state of knowledge on the genetic architecture of Parkinson's disease subtypes, including monogenic and polygenic risk factors.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Review
Clinical Neurology
A. Planas-Ballve, D. Vilas
Summary: This review summarizes data on cognitive function in different genetic forms of PD, including autosomal dominant PD linked to mutations in LRRK2 and SNCA, autosomal recessive PD linked to Parkin and PINK1, and PD linked to GBA mutations. The data indicate significant differences in cognitive function among patients with different genetic types of PD.
PARKINSONS DISEASE
(2021)
Article
Toxicology
Dimitrios Rikos, Vasileios Siokas, Tatyana Burykina, Nikolaos Drakoulis, Efthimios Dardiotis, Elias Zintzaras
Summary: This study introduced a novel non-parametric approach to GWAS meta-analysis and identified significant findings related to Parkinson's disease genetics, which can serve as a basis for further convergent analysis with Genome-wide linkage studies.
TOXICOLOGY REPORTS
(2021)
Article
Neurosciences
Bruno Lopes Santos-Lobato, Artur F. Schumacher-Schuh, Carlos R. M. Rieder, Mara H. Hutz, Vanderci Borges, Henrique Ballalai Ferraz, Ignacio F. Mata, Cyrus P. Zabetian, Vitor Tumas
ARQUIVOS DE NEURO-PSIQUIATRIA
(2020)
Article
Peripheral Vascular Disease
Mazen S. Albaghdadi, Michael N. Young, Mohammed M. Chowdhury, Susan Assmann, Taye Hamza, Sandra Siami, Maria Villarreal, Michael Strong, Matthew Menard, Alik Farber, Kenneth Rosenfield
Summary: The study found that vascular surgeons were more likely to order tests for cardiac complications compared to nonsurgical interventionalists. Moreover, post-procedure, investigators were more likely to order additional testing for cardiac complications in open surgery cases, indicating variation in clinical practice patterns. These findings suggest that differences in ascertainment bias need to be considered when interpreting the results of clinical studies in patients undergoing revascularization.
Article
Surgery
Jeffrey J. Siracuse, Philip P. Goodney, Matthew T. Menard, Kenneth Rosenfield, Maxwell Van Over, Taye H. Hamza, Mark Eid, Maria F. Villarreal, Michael B. Strong, Alik Farber
Summary: This study aimed to investigate the correlation between treatment of CLI patients in the US and the UK. By examining the correlation between BEST-CLI trial centers and regional amputation rates, it was found that the number of centers participating in BEST-CLI was negatively correlated with amputation rates among Medicare CLI patients with diabetes and PAD. Higher participation in clinical research, especially in large RCTs, may indicate optimal PAD management.
Article
Neurosciences
Zachary D. Wallen, William J. Stone, Stewart A. Factor, Eric Molho, Cyrus P. Zabetian, David G. Standaert, Haydeh Payami
Summary: Through research, it was found that there is dysbiosis in the gut microbiome of PD patients, with an overabundance of opportunistic pathogens influenced by the host genotype at the alpha-synuclein locus. These results suggest hypotheses on the pathogenesis of PD, incomplete penetrance of susceptibility genes, and potential triggers of gut pathology.
NPJ PARKINSONS DISEASE
(2021)
Article
Surgery
Richard J. Powell, Niteesh Choudhry, Michael Conte, Mark Cziraky, Kristina Giles, Taye Hamza, Matthew Menard, Kenneth Rosenfeld, Vincent Rowe, Jeffrey J. Siracuse, Michael Strong, Max Van Over, Maria Villarreal, Chris White, Alik Farber
Summary: The BEST-CLI trial revealed that patients with CLI have very low health-related quality of life scores, comparable to patients with other chronic conditions. Smoking history, impaired ambulation, opioid use, and female sex were predictive factors for lower HRQOL in CLI patients.
JOURNAL OF VASCULAR SURGERY
(2022)
Article
Neurosciences
Rosie Morris, Douglas N. Martini, Katrina Ramsey, Valerie E. Kelly, Katrijn Smulders, Amie Hiller, Kathryn A. Chung, Shu-Ching Hu, Cyrus P. Zabetian, Kathleen L. Poston, Ignacio F. Mata, Karen L. Edwards, Jodi Lapidus, Brenna Cholerton, Thomas J. Montine, Joseph F. Quinn, Fay Horak
Summary: The study aimed to investigate differences in gait and balance impairments in Parkinson's disease patients with and without GBA variants (mutation carriers and E326K polymorphism) and explore the direct and indirect effects of GBA status on gait, balance, and cognition. The results showed that the GBA variant group had more impaired gait and balance, and cognition mediated the impact of GBA status on gait and balance.
NPJ PARKINSONS DISEASE
(2022)
Article
Surgery
Jeffrey J. Siracuse, Vincent L. Rowe, Matthew T. Menard, Kenneth Rosenfield, Michael S. Conte, Richard Powell, Leonardo C. Clavijo, Kristina A. Giles, Taye H. Hamza, Max Van Over, Mark Cziraky, Christopher J. White, Michael B. Strong, Alik Farber
Summary: This study investigated the impact of wounds, ischemia, and foot infection on the health-related quality of life (HRQoL) of patients with chronic limb threatening ischemia (CLTI). The results showed that WIfI stage was negatively associated with mental health-related quality of life. Clinicians should be aware of the psychological burden borne by patients with severe limb impairment.
JOURNAL OF VASCULAR SURGERY
(2023)
Article
Medicine, General & Internal
Alik Farber, Matthew T. T. Menard, Michael S. S. Conte, John A. A. Kaufman, Richard J. J. Powell, Niteesh K. K. Choudhry, Taye H. H. Hamza, Susan F. F. Assmann, Mark A. A. Creager, Mark J. J. Cziraky, Michael D. D. Dake, Michael R. R. Jaff, Diane Reid, Flora S. S. Siami, George Sopko, Christopher J. J. White, Max van Over, Michael B. B. Strong, Maria F. F. Villarreal, Michelle McKean, Ezana Azene, Amir Azarbal, Andrew Barleben, David K. K. Chew, Leonardo C. C. Clavijo, Yvan Douville, Laura Findeiss, Nitin Garg, Warren Gasper, Kristina A. A. Giles, Philip P. P. Goodney, Beau M. M. Hawkins, Christine R. R. Herman, Jeffrey A. A. Kalish, Matthew K. C. Koopmann, Igor A. A. Laskowski, Carlos Mena-Hurtado, Raghu Motaganahalli, Vincent L. L. Rowe, Andres Schanzer, Peter A. A. Schneider, Jeffrey J. J. Siracuse, Maarit Venermo, Kenneth Rosenfield
Summary: In patients with chronic limb-threatening ischemia (CLTI), it is uncertain whether endovascular therapy or surgical revascularization is superior for improving limb outcomes. This international trial enrolled 1830 patients with CLTI and peripheral artery disease, and found that surgical revascularization was more effective than endovascular therapy in reducing major adverse limb events or death in patients with an adequate great saphenous vein for surgery.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Zachary D. Wallen, Ayse Demirkan, Guy Twa, Gwendolyn Cohen, Marissa N. Dean, David G. Standaert, Timothy R. Sampson, Haydeh Payami
Summary: The authors conducted a large-scale metagenomics analysis comparing gut microbiomes of Parkinson's disease patients and healthy individuals, revealing dysbiosis in PD and confirming the importance of the gut microbiome in PD pathogenesis.
NATURE COMMUNICATIONS
(2022)
Letter
Clinical Neurology
Serdar Kazanci, Jennifer Witt, Kimmy Su, Oswaldo Lorenzo-Betancor, Dora Yearout, Cyrus P. Zabetian, Marie Y. Davis
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Surgery
Matthew T. Menard, Michael R. Jaff, Alik Farber, Kenneth Rosenfield, Michael S. Conte, Christopher J. White, Joshua A. Beckman, Niteesh K. Choudhry, Leonardo C. Clavijo, Thomas S. Huber, Katherine R. Tuttle, Taye H. Hamza, Andres Schanzer, Igor A. Laskowski, Mark J. Cziraky, Alain Drooz, Max van Over, Michael B. Strong, Ido Weinberg
Summary: This study evaluated the adherence of CLTI patients to guideline-based optimal medical therapy (OMT) at the time of enrollment and found that a significant proportion of patients did not meet the OMT criteria. This suggests a major gap in the medical management of CLTI patients.
JOURNAL OF VASCULAR SURGERY
(2023)
Article
Surgery
Jeffrey J. Siracuse, Alik Farber, Matthew T. Menard, Michael S. Conte, John A. Kaufman, Michael Jaff, Sharon C. Kiang, Cassius I. Ochoa Chaar, Nicholas Osborne, Niten Singh, Tze-Woei Tan, Raul J. Guzman, Michael B. Strong, Taye H. Hamza, Gheorghe Doros, Kenneth Rosenfield
Summary: In the BEST-CLI trial, patients with chronic limb-threatening ischemia who were candidates for open lower extremity bypass surgery had similar peri-procedural complications regardless of whether they underwent open or endovascular revascularization. Concerns about peri-procedure complications should not be a barrier to choosing a revascularization strategy in these patients, with other factors like effectiveness and patient preference playing a more important role.
JOURNAL OF VASCULAR SURGERY
(2023)
Meeting Abstract
Surgery
Matthew Menard, Michael Jaff, Ido Weinberg, Kenneth Rosenfield, Michael Conte, Christopher White, Thomas Huber, Taye Hamza, Andres Schanzer, Igor Laskowski, Alik Farber
JOURNAL OF VASCULAR SURGERY
(2022)
Meeting Abstract
Surgery
Jeffrey Siracuse, Vincent Rowe, Matthew Menard, Kenneth Rosenfield, Michael Conte, Richard Powell, Kristina Giles, Taye Hamza, Michael Strong, Christopher White, Niteesh Choudhry, Alik Farber
JOURNAL OF VASCULAR SURGERY
(2022)