Article
Genetics & Heredity
Amihood Singer, Annemieke Aartsma-Rus, Julia Grinshpun-Cohen, Lena Sagi-Dain
Summary: The study summarizes the results of the first year of implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and discusses the challenges that follow. The study found clinically significant results in 82 cases, uncertain clinical significance in 80 cases, and false positive results in 373 cases initially identified as single-exon deletions. Interpreting population-based DMD carrier screening requires additional genetic testing methods and ethical considerations.
GENETICS IN MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Ian J. Neeland, Sadeer G. Al-Kindi, Nour Tashtish, Elke Eaton, Janice Friswold, Sara Rahmani, Khendi T. White-Solaru, Imran Rashid, Diamond Berg, Mariam Rana, Claire Sullivan, Betul Hatipoglu, Peter Pronovost, Sanjay Rajagopalan
Summary: This article presents the results of a study on team-based care for patients with type 2 diabetes. The study shows that team-based care can reduce cardiovascular risk factors and improve patients' quality of life.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Sport Sciences
Braeden Hill, Nicholas Grubic, Matthew Williamson, Dermot M. Phelan, Aaron L. Baggish, Paul Dorian, Jonathan A. Drezner, Amer M. Johri
Summary: This systematic review evaluated the psychological implications of cardiovascular preparticipation screening (PPS) in athletes. The findings indicated that most athletes had positive reactions to screening and would recommend it to others. Psychological distress was mainly reported among athletes with pathological cardiac conditions and true-positive screening results. However, athletes with false-positive screening results still reported an increased feeling of safety while participating in sport and were satisfied with PPS. Overall, most athletes did not experience psychological distress before, during, or after PPS, regardless of the screening modality used or accuracy of results.
BRITISH JOURNAL OF SPORTS MEDICINE
(2023)
Review
Multidisciplinary Sciences
Ananda L. Roy, Elizabeth L. Wilder, James M. Anderson
Summary: Large-scale generation and validation of protein capture reagents is a technical challenge, with validation being a critical iterative process that yields different results for different uses. Independent community-based validation offers the possibility of transparent data sharing.
Article
Health Care Sciences & Services
Michelle Liu, Sara L. Van Driest, Cindy L. Vnencak-Jones, Leigh Ann G. Saucier, Bartholomew P. Roland, Cheryl L. Gatto, Shari L. Just, Asli O. Weitkamp, Josh F. Peterson
Summary: This study discusses the evolution of pharmacogenomic evidence for SSRIs and the challenges of maintaining up-to-date interpretations and implementing new clinical decision support. Vanderbilt University Medical Center's approach of reinterpreting historic genotypes and launching provider CDS for SSRIs is effective in updating phenotypes and improving patient care. The results demonstrate the importance of continuous efforts in maintaining and expanding pharmacogenomic content for personalized medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, Research & Experimental
Joseph Heitman
Summary: This Viewpoint is associated with the 25th anniversary of the American Society for Clinical Investigation's Stanley J. Korsmeyer Award, which recognizes scientific excellence, meritorious research, intellectual integrity, and mentoring of future researchers. The 2018 award honored Joseph Heitman for his contributions to understanding microbial pathogen evolution, disease causation, drug resistance, and discovery of immunosuppressive drug targets. Dr. Heitman has mentored numerous students, fellows, and researchers who have pursued successful careers in medicine and biomedical research.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Health Care Sciences & Services
Caitlin G. Allen, Leslie Lenert, Kelly Hunt, Amy Jackson, Elissa Levin, Catherine Clinton, John T. Clark, Kelli Garrison, Sam Gallegos, Karen Wager, Wenjun He, Katherine Sterba, Paula S. Ramos, Cathy Melvin, Marvella Ford, Kenneth Catchpole, Lori McMahon, Daniel P. Judge
Summary: This study aims to evaluate the multi-level facilitators and barriers to the implementation of the In Our DNA SC population-wide genomic screening initiative. The findings indicate lower engagement rates among Asian and Black individuals, highlighting the need for strategies to address participation barriers for diverse populations. However, once enrolled, individuals showed high rates of study completion and engagement with genetic counselors.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Computer Science, Information Systems
Rachel C. Sisodia, Jorge A. Rodriguez, Thomas D. Sequist
Summary: The collection of patient reported outcomes (PROs) allows for incorporating patient voices into care, but reliance on electronic portals for PRO completion during the COVID-19 pandemic resulted in significant racial disparities, highlighting the inequities in portal usage.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Economics
Sara Hastings-Simon, Andrew Leach, Blake Shaffer, Tim Weis
Summary: The case study and analysis of Alberta's Renewable Electricity Program demonstrates its success in contracting for new renewable generation at low prices, attracting new entrants into the power market, and spurring privately-financed development. However, the program's design did not adequately reward high-value generation, which could pose a challenge in future auction rounds.
Article
Oncology
Molly Li, Kevin Mok, Tony Mok
Summary: Patients with mutant EGFR-positive NSCLC benefit from TKI treatment. PF00299804, a second-generation EGFR TKI, has shown the potential to overcome the T790M mutation and improve treatment outcomes.
Editorial Material
Immunology
Timothy Sullivan
Summary: Since the emergence of COVID-19 over 3 years ago, more than 1200 articles have been written to document the lessons learned from the pandemic. However, it is not feasible to read all of these articles, leading to the use of machine learning clustering analysis to obtain an overview and emphasize the benefits of using machine learning in analyzing the extensive and constantly expanding COVID-19 literature.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Review
Immunology
Katharina F. Kubatzky
Summary: Pasteurella multocida is a gram-negative bacterium that causes diseases in various animals. The bacterium expresses a toxin called PMT, which can destroy bones and modulate immune cell activation. Recent research has focused on using PMT to understand human diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Medicine, General & Internal
Laura Paleari, Virginia Malini, Gabriella Paoli, Stefano Scillieri, Claudia Bighin, Bernd Blobel, Mauro Giacomini
Summary: The SARS-CoV-2 health emergency has highlighted the importance of developing structured telemedicine systems. The European Union is advocating for the digital transition of health systems in the next 5 years. Telemedicine can provide distance and timely healthcare services, especially in critical environments.
FRONTIERS IN MEDICINE
(2022)
Article
Microbiology
Martin J. Blaser, Suzanne Devkota, Kathy D. McCoy, David A. Relman, Moran Yassour, Vincent B. Young
Summary: Recent studies have shown that the prenatal environment is not sterile, with microbial communities present that can impact the development and health of the host. However, controversy surrounds the prenatal microbiome, focusing on issues of contamination and inconsistencies among different studies.
Article
Medicine, Legal
Pavel Votypka, Alice Krebsova, Patricia Norambuena-Poustkova, Petra Peldova, Stepanka Pohlova Kucerova, Marketa Kulvajtova, Petra Dohnalova, Matej Bilek, Veronika Stufka, Kristina Rucklova, Iva Grossova, Hanka Wuenschova, Terezia Tavacova, Jana Haskova, Marketa Seget'ova, Jakub Stocek, Andrea Gregorova, Veronika Zoubkova, Jana Petrkova, Martin Dobias, Michal Makusa, Alzbeta Blankova, David Vajtr, Hynek Rehulka, Ivan Subrt, Alexander Pilin, Petr Tomasek, Jan Janousek, Josef Kautzner, Milan Macek
Summary: This study analyzed 100 Sudden Cardiac Death (SCD) cases and identified pathogenic or likely pathogenic variants in 22 cases. Additionally, the study revealed 83 relatives at risk of SCD through cardiological and genetic screening. These findings highlight the clinical importance of genetic testing and family screening in the diagnosis and risk assessment of SCD. The establishment of a national collaboration group is crucial for further development of these diagnostic tests.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2023)
Article
Surgery
Simone Milani Brandao, Rodolfo Artioli Schellini, Oscar Peitl, Edgar Dutra Zanotto, Suzana Matayoshi, Roberta Lilian Fernandes de Sousa Meneghim, Silvana Artioli Schellini
JOURNAL OF CRANIOFACIAL SURGERY
(2020)
Article
Orthopedics
Marcio Eduardo de Melo Viveiros, Magda Massae Hata Viveiros, Marcia Guimaraes da Silva, Claudia Aparecida Rainho, Silvana Artioli Schellini
Summary: Cells derived from lateral elbow epicondylitis produce high concentrations of IL-6 and IL-8, confirming the inflammatory nature of the condition. While triamcinolone inhibits the production of IL-6 and IL-8 by these cells, PRP increases these cytokines compared to controls.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2022)
Article
Ophthalmology
Alicia Galindo-Ferreiro, Victoria Marques-Fernandez, Hortensia Sanchez-Tocino, Silvana A. Schellini
Summary: The study demonstrated that quantitative evaluation of eyelid position and tear meniscus in patients with peripheral idiopathic facial nerve palsy can effectively document the disease progression and serve as a clue for orbicularis recovery.
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2022)
Article
Ophthalmology
Carolina Pereira Bigheti, Oscar Peitl, Gabriel de Almeida Ferreira, Silvana Artioli Schellini
Summary: This study evaluated the movement amplitude of anophthalmic sockets reconstructed with different types of orbital implants, finding that conical and spherical implants provide similar movement amplitudes and that fornix depth does not influence this. The movement of the sockets was significantly limited compared to the contralateral eye, and even more so if an external ocular prosthesis was present.
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2022)
Article
Ophthalmology
Reem R. Alanazi, Silvana A. Schellini, Hailah Alhussain, Sahar Elkhamary, Rajiv Khandekar, Osama AlSheikh
Summary: Orbital hydrogel expanders can improve orbital development in congenital anophthalmia, but the enlargement is not as extensive as in normal orbits. Additional interventions are needed to promote normal growth of eyelids and fornices.
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2022)
Article
Ophthalmology
Milagros Mateos-Olivares, Minal Belani-Raju, Hortensia Sanchez-Tocino, Cristina Ye-Zhu, Marco Sales-Sanz, Andre Bragante, Roberta Lilian Fernandes de Sousa Meneghim, Silvana A. Schellini, Alicia Galindo Ferreiro
Summary: This study compared the outcomes of reinserting inferior eyelid retractors through the anterior or posterior approach, in addition to lateral tarsal strip, for the correction of lower eyelid involutional entropion. The results showed that the anterior approach had a slightly higher success rate, lower recurrence rate, but a higher overcorrection rate.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Walaa Alturkistany, Richard Allen, Aysha Aloqab, Silvana Schellini, Hunter Yuen, Diego Strianese, Rawan N. Althaqib, Hamad M. Alsulaiman
Summary: This study examined the preferences, patient selection criteria, technique, and barriers to adoption of endoscopic dacryocystorhinostomy (DCR) among oculoplastic surgeons. The majority of respondents preferred external DCR for treating primary acquired nasolacrimal duct obstruction. Lack of experience and training were identified as the most common barriers to performing endoscopic DCR. Surgical mentorship and supervision during initial cases were believed to facilitate learning of the technique.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Elvira Martinez-Fernandez, Carolina Pereira Bigheti, Hortensia Sanchez-Tocino, Denise Moreira Zornoff, Silvana Artioli Schellini, Alicia Galindo-Ferreiro
Summary: This study aimed to investigate the perspectives of ocularists in Brazil and Spain on the management of anophthalmic socket and external ocular prosthesis (EOP). The results showed that there were similarities in guidelines followed by ocularists from both countries, but there were differences in patient referral and the recommended lifespan of the prosthesis.
INTERNATIONAL OPHTHALMOLOGY
(2023)
Review
Ophthalmology
Hamad M. Alsulaiman, Reem Alanazi, Sahar Elkhamary, Azza Maktabi, Hind Alkatan, Rawan N. Althaqib, Osama Sheik, Silvana A. Schellini
Summary: This article presents a systematic literature review on orbital Rosai-Dorfman Disease (RDD), including 88 reported cases. It also reports two cases of isolated bilateral extra-nodal orbital RDD associated with G-6PD deficiency. The disease was characterized by extensive orbital and paranasal sinus infiltration, as well as orbital bone destruction. Surgical debulking and steroid treatment improved the condition in both patients.
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2023)
Letter
Ophthalmology
M. M. H. Viveiros, F. O. Lima, S. A. Schellini
JOURNAL FRANCAIS D OPHTALMOLOGIE
(2022)
Article
Medicine, General & Internal
Igor Leonardo Carmona Chaves, Carlos Roberto Padovani, Denise de Cassia Moreira Zornoff, Ana Silvia Sartori Barraviera Seabra Ferreira, Edson Nacib Jorge, Silvana Artioli Schellini
Summary: Family Health Program physicians in Brazil, serving as primary care providers in the Unified Health System, demonstrated limited knowledge in ophthalmology. Training in ophthalmology may enhance primary level ophthalmological care within SUS and reduce the burden on higher levels of healthcare.
REVISTA DA ASSOCIACAO MEDICA BRASILEIRA
(2021)
Article
Ophthalmology
Fatimah Alhammad, Alicia Galindo-Ferreiro, Rajiv Khandekar, Osama Al-Sheikh, Fatimah Alzaher, Silvana Schellini
SAUDI JOURNAL OF OPHTHALMOLOGY
(2020)
Letter
Ophthalmology
Luisa Fioravanti Schaal, Roberta Lilian de Sousa Fernandes Meneghim, Antonio Carlos Lotelli Rodrigues, Carlos Roberto Padovani, Helio Rubens de Carvalho Nunes, Silvana Artioli Schellini
ARQUIVOS BRASILEIROS DE OFTALMOLOGIA
(2020)
Article
Ophthalmology
Hamad M. Alsulaiman, Dalal R. Fatani, Osama Al Sheikh, Sahar Elkhamary, Azza Maktabi, Hind M. Alkatan, Silvana Artioli Schellini
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2020)
Article
Ophthalmology
Dalal Al Essa, Rajiv Khandekar, Alicia Galindo-Ferreiro, Deepak P. Edward, Azza Maktabi, Hailah Al Hussein, Osama Al Sheikh, Diego Strianese, Silvana A. Schellini
ORBIT-THE INTERNATIONAL JOURNAL ON ORBITAL DISORDERS-OCULOPLASTIC AND LACRIMAL SURGERY
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Jose E. Exaire, Timothy A. Mixon
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Giuseppe Di Gioia, Federica Coletti, Lorenzo Buzzelli, Viviana Maestrini, Sara Monosilio, Andrea Segreti, Maria Rosaria Squeo, Erika Lemme, Antonio Nenna, Antonio Pelliccia
Summary: Dyslipidemia is common in Paralympic athletes, with lipid levels influenced by the type of disability and sporting discipline.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Esra Donmez, Sevgi Ozcan, Irfan Sahin, Murat Ziyrek, Ertugrul Okuyan
Summary: This study aimed to evaluate the predictive value of the GRACE risk score in acute pulmonary embolism (PE) patients for 30-day mortality and the need for thrombolytic treatment. The study found that the GRACE risk score, along with the PESI score, were independent risk factors associated with 30-day mortality and the need for thrombolytic treatment. The GRACE risk score showed high sensitivity and specificity in predicting mortality, and its combination with the PESI score helped define high-risk PE patients and predict poor prognosis.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Tom Kai Ming Wang, Reza Reyaldeen, Kevser Akyuz, Zoran B. Popovic, A. Marc Gillinov, Bo Xu, Brian P. Griffin, Milind Y. Desai
Summary: Transthoracic echocardiography (TTE) is commonly used to evaluate isolated tricuspid regurgitation (TR), but there is limited research comparing its quantification with magnetic resonance imaging (MRI). In this study, a novel TTE algorithm was developed to identify severe TR based on TTE parameters. The algorithm had a higher accuracy than the current guidelines' criteria in detecting severe TR by MRI.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Editorial Material
Cardiac & Cardiovascular Systems
Enkhtsogt Sainbayar, Ramzi Ibrahim, Hoang Nhat Pham, Wisam Beauti, Mahek Shahid, Natalie Hickerson, Mohammed Salih, Joao Paulo Ferreira, Mamas A. Mamas
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Richard E. Casazza, Hymie Chera, Carlos Adolfo Rodriguez, Sergey Ayzenberg
Summary: This article presents a case of a patient with known situs inversus who underwent cardiac catheterization and was found to have chronic total occlusion in the right coronary artery. Situs inversus is a rare congenital abnormality characterized by the inverted position of chest and abdominal organs. Cardiac catheterization is uncommon in patients with this particular abnormality, highlighting the importance of customizing techniques to engage coronary arteries and optimize guide support for percutaneous coronary intervention if needed.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Editorial Material
Cardiac & Cardiovascular Systems
Georgiana Pintea Bentea, Brahim Berdaoui, Sophie Samyn, Marielle Morissens, Philippe van de Borne, Jose Castro Rodriguez
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Bulbul Ahmed, Melissa G. Farb, Shakun Karki, Sophia D'Alessandro, Niloo M. Edwards, Noyan Gokce
Summary: This study evaluated the angiogenic capacity of adipose tissue in patients undergoing cardiac surgeries and found that patients with coronary artery disease (CAD) had reduced angiogenic capacity in their pericardial adipose tissue. Gene expression analysis revealed upregulated expression of the anti-angiogenic gene TSP-1 in CAD patients, with no significant differences in other angiogenic factors. Additionally, inhibiting TSP-1 expression significantly improved angiogenic deficiency in CAD patients.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Moshe Rav-Acha, Orli Wube, Oholi Tovia Brodie, Yoav Michowitz, Michael Ilan, Tal Ovdat, Robert Klempfner, Mahmud Suleiman, Ilan Goldenberg, Michael Glikson
Summary: The current guidelines recommend prophylactic implantable cardioverter-defibrillator (ICD) for patients with symptomatic heart failure (HF) and low left ventricular ejection fraction. However, not all patients will benefit from ICD treatment. This study evaluated the feasibility of using the MADIT-II-based Risk Stratification Score (MRSS) to predict the survival benefit of prophylactic ICDs in patients with HF. The results showed that different risk subgroups had varying levels of ICD survival benefit.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ariel Banai, Rachel Retsky, Lior Lupu, Erez Levi, David Zahler, Omri Feder, Roei Merin, Yan Topilsky, Raphael Rosso, Shmuel Banai, Sami Viskin, Ehud Chorin
Summary: This study aims to evaluate the association between electromechanical window (EMW) and ventricular tachyarrhythmias in patients with Takotsubo syndrome (TTS). The study found that TTS patients had a lower EMW value, which was associated with an increased risk of ventricular tachyarrhythmias.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Harun Kundi, Kobina Hagan, Tamer Yahya, Garima Sharma, Sadeer Al-Kindi, Zulqarnain Javed, Khurram Nasir
Summary: Using latent class analysis (LCA), the study identified clinical, demographic, and social subphenotypes in ASCVD population and assessed the risk of all-cause and cardiovascular mortality across different socioclinical classes. The results showed that the younger, female, non-Hispanic Black or Hispanic individuals with a high burden of co-morbidities and unfavorable social determinants of health had the highest risk of mortality in the identified latent classes.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Moises A. Vasquez, Mina Iskander, Mohammed Mustafa, Juan A. Quintero-Martinez, Antonio Luna, Joel Mintz, Jose Noy, Juan Uribe, Ivan Mijares, Eduardo de Marchena, Yiannis S. Chatzizisis
Summary: The benefits of pericardiocentesis (PC) in patients with pulmonary hypertension (PH) and pericardial effusions are unclear. The study found that PC in PH patients is associated with higher in-hospital mortality and rates of cardiovascular complications.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ken Kuwajima, Mana Ogawa, Irving Ruiz, Hiroko Hasegawa, Nobuichiro Yagi, Florian Rader, Robert J. Siegel, Takahiro Shiota
Summary: After cardiac surgery, the longitudinal function of the right ventricle and left ventricle is reduced, despite preserved global functions. In particular, tricuspid annular plane systolic excursion (TAPSE) remains decreased after surgery.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Min -Jung Kim, Robert H. Aseltine Jr, Sara R. Tabtabai
Summary: This study evaluated the rates and causes of 30-day readmissions after discharge for heart failure (HF) as a primary and secondary diagnosis. The findings indicate that efforts to reduce readmission rates should include patients with secondary HF diagnosis, and surveillance should extend to 2 weeks postdischarge to identify at-risk patients.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ya He, Jianzhong Zhou
Summary: This study aimed to examine the relation between reverse septal curvature (RSC) and nonsustained ventricular tachycardia (NSVT) in patients with hypertrophic cardiomyopathy (HCM). The study found that patients with RSC were younger and had a higher incidence of NSVT, and RSC was identified as a strong independent risk factor for NSVT.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)