Practice Location

3080 NW 99TH AVE FL 2
CORAL SPRINGS, FL 33065-4038

Phone: (954) 726-0035

What does ROHAN FARIA research?

Dr. Faria studies the effects of specific health technologies and medications in treating various medical conditions. His research includes evaluating dangerous plaque in coronary arteries using CT scans to predict heart problems, assessing medications for prostate cancer, and developing better diagnostic tools for rare diseases. He also examines how economic evaluations can inform the use of these technologies in healthcare systems.

Key findings

  • Patients with high-risk coronary artery plaque detected by CT were over three times more likely to face major cardiovascular events compared to those without such plaque features.
  • Enzalutamide treatment for metastatic castration-resistant prostate cancer showed a 23% lower risk of death and 10% lower risk of stopping treatment compared to abiraterone.
  • The SLE Knowledge Assessment score (SLAKE) found that patients who understood their systemic lupus erythematosus better tended to have longer disease duration and had previously taken education courses, indicating the importance of patient knowledge in managing this condition.

Frequently asked questions

Does Dr. Faria study heart diseases?
Yes, he investigates how different coronary artery conditions and treatments affect heart health.
What treatments has Dr. Faria researched?
He has studied medications for prostate cancer and the impact of coronary artery plaque on cardiovascular events.
Is Dr. Faria's work relevant to patients with lupus?
Yes, he developed tools to help lupus patients assess their understanding of the disease, which is crucial for their management.
How does Dr. Faria's research help healthcare providers?
His studies provide guidelines and evaluations that assist providers in making informed treatment decisions and improving patient outcomes.
What economic aspects does Dr. Faria examine in his research?
He focuses on evaluating the cost-effectiveness of health technologies to ensure better funding and resource allocation in healthcare.

Publications in plain English

Attributes and Health Care Resource Utilization of Patients on Enzalutamide or Abiraterone for Metastatic Castration-Resistant Cancer in England.

2026

JCO oncology practice

Bahl A, Faria R, Merseburger AS, Attard G, Snijder R +7 more

Plain English
This study looked at two medications, enzalutamide (ENZA) and abiraterone (AA), used to treat men with advanced prostate cancer in England. Researchers found that patients on ENZA had better outcomes, including a 23% lower risk of death and 10% lower risk of stopping treatment compared to those on AA, as well as fewer hospital visits and admissions. This is significant because it suggests that ENZA could lead to better health and less strain on health care resources for patients. Who this helps: Patients with metastatic castration-resistant prostate cancer and their healthcare providers.

PubMed

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.

2026

Arthritis & rheumatology (Hoboken, N.J.)

Mekinian A, Georgin-Lavialle S, Ferrada MA, Savic S, Koster MJ +54 more

Plain English
This research paper discusses VEXAS, a rare genetic disorder caused by mutations in the UBA1 gene that leads to inflammation and blood issues. The international group of experts created guidelines to help healthcare providers diagnose and treat this condition, providing advice on testing, how to spot related blood disorders, and overall patient management. This guidance is important because it fills a critical gap in knowledge for a disease that previously had no formal recommendations. Who this helps: This helps doctors and healthcare providers who treat patients with VEXAS.

PubMed

Revised methods guide for economic evaluation studies of health technologies in Portugal.

2026

International journal of technology assessment in health care

Soares MO, Perelman J, Mateus C, Duarte A, Faria R +7 more

Plain English
This study focuses on updating the guidelines for assessing the economic value of health technologies in Portugal's National Health System. The revised methods emphasize the importance of cost-effectiveness analyses based on quality of life, and include strategies for managing uncertainties in health technology evaluations, aligning with practices from the UK and Canada. These changes are intended to make resource allocation decisions clearer and more effective, ultimately improving healthcare delivery. Who this helps: This benefits patients and healthcare providers by ensuring better funding decisions for health technologies.

PubMed

Association of high-risk CT coronary artery plaque features with major adverse cardiovascular events: a prespecified secondary analysis of the DISCHARGE trial.

2026

European radiology

Szilveszter B, Biavati F, Sørum C, Benedek T, Donnelly P +77 more

Plain English
This study looked at specific types of dangerous plaque in coronary arteries detected by CT scans and how they relate to serious heart problems, like heart attacks and strokes, in patients with stable chest pain. The researchers found that patients with high-risk plaque features were over three times more likely to experience major cardiovascular events compared to those without, particularly in patients who also had obstructive coronary artery disease, who faced nearly nine times the risk. Understanding these plaque features helps doctors better assess and manage the risk of serious heart issues in their patients. Who this helps: This research benefits patients with chest pain and their doctors by providing better risk assessment tools.

PubMed

Identifying quality of life domains and facets affected in relapsing polychondritis: a qualitative analysis for the development of a disease-specific health-related quality of life instrument.

2026

Orphanet journal of rare diseases

Mertz P, Sander O, Faria R, Crisafulli F, Silva-Ribeiro S +17 more

PubMed

Clonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case.

2026

Acta medica portuguesa

Monteiro-Brás T, Araújo I, Amorim ML, Azevedo A, Regadas L +2 more

PubMed

Modelling the cost-effectiveness of interventions to treat or prevent neuropathic ulcers arising from leprosy: application to L-PRF.

2026

Cost effectiveness and resource allocation : C/E

Ochalek J, Gibbs NK, Faria R, Napit IB, Shrestha D +7 more

PubMed

International development and validation of a multilingual bank of items for the self-assessment of essential knowledge by systemic lupus erythematosus patients: the SLE Knowledge Assessment score (SLAKE).

2026

Rheumatology (Oxford, England)

Satrin A, Piga M, Gatto M, Fuentes-Silva Y, Puerta JAG +34 more

Plain English
Researchers created a new digital tool called the SLE Knowledge Assessment score (SLAKE) to measure how well patients with systemic lupus erythematosus (SLE) understand their disease. In a study with over 1,180 SLE patients, the average score was 37 out of 44, showing that while many patients had some knowledge, there is still room for improvement. This is important because better understanding of SLE can lead to better disease management and outcomes for patients. Who this helps: This helps SLE patients and their healthcare providers.

PubMed

A rare presentation of an accessory mitral valve chordae.

2025

The international journal of cardiovascular imaging

Leite M, Pires-Morais G, Azevedo AI, Faria R

Plain English
This study looked at a rare condition where some patients have extra thin strands (called accessory mitral valve chordae) connected to the mitral valve in their hearts. During a routine heart ultrasound, doctors found these extra strands in a patient's atrium, which is unusual. Understanding such variations is important because they can affect heart function and treatment decisions. Who this helps: This helps doctors and patients by providing insights into uncommon heart conditions.

PubMed

Foveal avascular zone area measurement in diabetic patients: Superficial, deep or combined retinal vascular complex?

2025

Microvascular research

Pereira B, Faria R, Domingues C, Barros A, Varandas T +4 more

Plain English
This study looked at how well different methods measure the foveal avascular zone (FAZ) area in diabetic patients, focusing on the superficial and deep layers of blood vessels in the retina. It involved 26 eyes and found that using a combined approach (SDVC) resulted in more consistent measurements compared to the individual layers (SVC and DVC). This matters because more accurate measurements can help in better detecting and tracking retinal diseases in diabetic patients. Who this helps: Patients with diabetes and their doctors.

PubMed

Impact of the COVID-19 pandemic on cannabis cultivation and use in 18 countries.

2025

The International journal on drug policy

Werse B, Kamphausen G, Søgaard TF, Bear D, Audran M +9 more

Plain English
This study examined how the COVID-19 pandemic affected the growing and use of cannabis in 18 countries. Researchers surveyed over 11,000 cannabis growers and found that while most of them faced few disruptions, 35% had trouble purchasing cannabis, 28% increased their use, and 21% grew more during the pandemic. The findings highlight how the pandemic led some people to grow cannabis at home due to issues in the illegal supply chain and increased demand during lockdowns. Who this helps: This benefits cannabis growers and users, particularly those facing challenges in accessing cannabis.

PubMed

Health Status Outcomes After Computed Tomography or Invasive Coronary Angiography for Stable Chest Pain: A Prespecified Secondary Analysis of the DISCHARGE Randomized Clinical Trial.

2025

JAMA cardiology

, Rieckmann N, Neumann K, Maurovich-Horvat P, Kofoed KF +78 more

Plain English
This study compared two imaging methods—computed tomography (CT) and invasive coronary angiography (ICA)—to see how they affect the quality of life and chest pain outcomes in patients with stable chest pain. Researchers followed 3,561 patients for an average of 3.5 years and found that both methods led to significant improvements in quality of life, with the CT group reporting a score increase of 4.0 and the ICA group 4.6. However, female patients consistently reported worse quality of life than males and made greater improvements, particularly with CT, but the type of imaging did not change this gap. Who this helps: This research benefits patients with stable chest pain and their doctors by informing them that both CT and ICA provide similar quality of life improvements.

PubMed

European Reference Network (ERN) ReCONNET methodology for the cross-cultural adaptation of instruments for research and care in the context of rare connective tissue diseases (CROSSADAPT).

2025

Orphanet journal of rare diseases

Arnaud L, Sander O, Rednic S, Mertz P, Faria R +21 more

Plain English
This study focused on creating a new method for adapting research tools and care instruments for rare connective tissue diseases (CTDs) in multiple languages. The researchers developed a process called ReCONNET-CROSSADAPT, which involves identifying important terms, assessing their meaning across languages, and including patient feedback to ensure translations are accurate and culturally relevant. This approach speeds up the adaptation process and reduces costs by avoiding unnecessary translation steps, ultimately improving the quality of tools used in CTD research and patient care. Who this helps: This benefits patients with rare connective tissue diseases and the healthcare professionals working with them.

PubMed

Recapitulation of clinical features in a patient-derived xenograft mouse model of VEXAS syndrome.

2025

Rheumatology (Oxford, England)

Arede L, Coutinho R, Duarte TL, Lopes M, Simões RV +5 more

PubMed

Phenotypic Divergence and Genomic Architecture Between Parallel Ecotypes at Two Different Points on the Speciation Continuum in a Marine Snail.

2025

Molecular ecology

Raffini F, De Jode A, Johannesson K, Faria R, Zagrodzka ZB +4 more

Plain English
This study looked at two types of marine snails from Spain and Sweden that have evolved to handle different challenges: crab attacks and strong waves. Researchers found that while both types look and behave differently, the Spanish snails show a much stronger separation from each other when it comes to reproduction, with two distinct groups that don't mix, compared to a gradual change in the Swedish snails. This difference matters because it helps us understand how species evolve and adapt in their environments. Who this helps: This helps scientists studying evolution and conservation efforts for marine species.

PubMed

Association between major cardiovascular events and abiraterone acetate compared to enzalutamide in patients with metastatic castration-resistant prostate cancer: a post hoc analysis of the EVADE study.

2025

World journal of urology

Bahl A, Chilelli A, Faria R, Rozario N, Snijder R +2 more

Plain English
This study looked at the risk of serious heart problems in patients with advanced prostate cancer who were treated with two different medications: abiraterone acetate and enzalutamide. Researchers found that patients taking abiraterone acetate had a 65% higher chance of experiencing major cardiovascular events compared to those on enzalutamide. This is important because it highlights a significant safety concern for patients using abiraterone acetate, which could influence treatment decisions. Who this helps: This helps doctors and patients with metastatic castration-resistant prostate cancer make informed choices about their treatment options.

PubMed

Push-Dose Pressors Outside the Operating Room: Systematic Review and Meta-Analysis of Observational Studies.

2025

The Journal of emergency medicine

Sucena Rodrigues B, Caldeira D, Dantas J, Faria R

Plain English
This study looked at the use of push-dose pressors (PDP), a type of medication used to quickly raise blood pressure, in critically ill patients outside of the operating room. They found that 77.9% of patients experienced improved blood pressure after receiving PDP, with an average increase of 30 mm Hg, although 14.4% of patients had some adverse effects. The findings suggest that while PDP can quickly help with low blood pressure, there are safety risks involved, and using a specific treatment protocol might help lower these risks. Who this helps: This research benefits critically ill patients and their doctors by providing insights into effective and safer treatment options.

PubMed

Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia: An Uncommon Clinical Challenge.

2025

Cureus

Faria R, Balanco L, Almeida V, Ferreira PG

Plain English
This study looked at a rare lung condition called diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) that mainly affects middle-aged or older women who do not smoke. A patient who had been experiencing a persistent cough and breathing difficulties for 12 years was initially misdiagnosed with COPD, but doctors eventually confirmed she had DIPNECH through a specialized lung biopsy. The findings highlight the need for doctors to be aware of this condition to ensure timely diagnosis and appropriate treatment options, such as the use of somatostatin analogs for managing symptoms. Who this helps: Patients, particularly women with chronic respiratory symptoms.

PubMed

Massive Floating Thrombus of the Aortic Arch: Perspectives From Multimodality Imaging.

2025

The Canadian journal of cardiology

Aguiar-Neves I, Vilela E, Faria R, Fontes-Carvalho R, Neves F

PubMed

Reply to Parth Aphale, Shashank Dokania, Himanshu Shekhar's Letter to the Editor re: Bahl A, Chilelli A, Faria R, et al. Association between major cardiovascular events and abiraterone acetate compared to enzalutamide in patients with metastatic castration-resistant prostate cancer: a post hoc analysis of the EVADE study. World J Urol 43:465. https://doi.org/10.1007/s00345-025-05841-9.

2025

World journal of urology

Bahl A, Chilelli A, Faria R, Rozario N, Snijder R +2 more

PubMed

ERGA-BGE Chromosome-Level Genome ofLinnaeus, 1758: a Resource to Investigate Responses to Global Warming in the intertidal.

2025

Open research Europe

Faria R, Nieto Vilela R, Lima FP, Monteiro R, Böhne A +13 more

Plain English
This study created a high-quality reference genome for a specific type of sea snail, which helps researchers understand how these marine organisms react to climate change. The genome is made up of 9 parts and covers 719 million base pairs with over 97% accuracy in assembly and annotation, providing crucial data for future studies on marine biodiversity. This research is important for predicting how global warming will affect ocean life and help protect it. Who this helps: This helps scientists and conservationists working to preserve marine ecosystems.

PubMed

Chromosomal inversion polymorphisms are widespread across the species ranges of rough periwinkles (Littorina saxatilis and L. arcana).

2024

Molecular ecology

Reeve J, Butlin RK, Koch EL, Stankowski S, Faria R

Plain English
This study focused on a species of intertidal snail called Littorina saxatilis and its genetic variations called chromosomal inversions, which are important for adaptation to different environments. Researchers looked at DNA from 107 snails and found that most of these genetic inversions were common across their habitats, with some inversions showing significant differences between two types of snails that thrive in different conditions. This research is important because it helps us understand how these snails adapt to their surroundings and how evolution works in these species. Who this helps: This information benefits researchers studying evolution and conservation efforts for marine species.

PubMed

Impact of smoking in patients with suspected coronary artery disease in the randomised DISCHARGE trial.

2024

European radiology

Mancone M, Mézquita AJV, Birtolo LI, Maurovich-Horvat P, Kofoed KF +78 more

Plain English
This study looked at how smoking affects the outcomes of patients with suspected heart disease when diagnosed using two methods: cardiac CT scans and invasive coronary angiography (ICA). The results showed that using a CT scan first led to fewer complications and a lower need for major procedures in smokers and former smokers, with a significant difference in complications (21% fewer). Importantly, the effectiveness and outcomes of the CT scan were similar regardless of whether patients were current smokers, former smokers, or had never smoked. Who this helps: This study benefits patients with stable chest pain, especially those who smoke or have smoked in the past.

PubMed

Structural Variants and Speciation: Multiple Processes at Play.

2024

Cold Spring Harbor perspectives in biology

Berdan EL, Aubier TG, Cozzolino S, Faria R, Feder JL +4 more

Plain English
This study examined how structural variants (SVs) in genetic material influence the process of speciation, or how new species form. The research found that different types of SVs—ranging from large changes like chromosome rearrangements to smaller changes—can affect how species evolve based on various factors like environment and history. Understanding these processes is crucial because it can help explain why certain species develop distinct traits and adapt to their environments. Who this helps: This research benefits biologists and conservationists studying species evolution and biodiversity.

PubMed

Effect of Body Mass Index on Effectiveness of CT versus Invasive Coronary Angiography in Stable Chest Pain: The DISCHARGE Trial.

2024

Radiology

Sykes R, Collison D, Merkely B, Kofoed KF, Donnelly P +78 more

Plain English
This study examined how body mass index (BMI) affects the success of two imaging tests—CT scans and invasive coronary angiography (ICA)—for patients with stable chest pain. Researchers found that while CT scans showed fewer complications and adverse events overall compared to ICA, higher BMI did lead to more unclear results from CT scans. In particular, patients with a BMI over 30 had a non-diagnostic CT rate of 7.1%, but outcomes were similar for both imaging methods regardless of most BMI categories. Who this helps: This research benefits patients experiencing stable chest pain and their doctors, helping them make informed choices about diagnostic imaging.

PubMed

Erratum. Computed Tomography Versus Invasive Coronary Angiography in Patients With Diabetes and Suspected Coronary Artery Disease. Diabetes Care 2023;46:2015-2023.

2024

Diabetes care

Benedek T, Wieske V, Szilveszter B, Kofoed KF, Donnelly P +77 more

PubMed

Diverse pathways to speciation revealed by marine snails.

2024

Trends in genetics : TIG

Johannesson K, Faria R, Le Moan A, Rafajlović M, Westram AM +2 more

Plain English
This study examined how marine snails evolve into new species and found that both environmental factors and genetic differences play important roles. Researchers analyzed pairs of snails and discovered that while different habitats help create barriers between them, genetic incompatibilities are more crucial for forming new species. They used a new method of looking at speciation from multiple angles, which could improve our understanding of this process in other animals, too. Who this helps: This research benefits scientists studying evolution and biodiversity.

PubMed

Age and Computed Tomography and Invasive Coronary Angiography in Stable Chest Pain: A Prespecified Secondary Analysis of the DISCHARGE Randomized Clinical Trial.

2024

JAMA cardiology

, Bosserdt M, Serna-Higuita LM, Feuchtner G, Merkely B +78 more

Plain English
This study looked at how age affects the outcomes of two imaging methods—computed tomography (CT) and invasive coronary angiography (ICA)—in patients with stable chest pain. Researchers found that age didn't significantly impact the risk of major heart issues over about 3.5 years, but older patients faced more complications from procedures. Specifically, younger patients had a lower risk of serious problems related to the procedures used to diagnose heart issues. Who this helps: This research benefits doctors making decisions about heart procedures for their patients, especially when considering age-related risks.

PubMed

Coronary Artery Calcium Score Predicts Major Adverse Cardiovascular Events in Stable Chest Pain.

2024

Radiology

Biavati F, Saba L, Boussoussou M, Kofoed KF, Benedek T +78 more

Plain English
This research studied how well coronary artery calcium (CAC) scores predict serious heart problems in patients experiencing stable chest pain. Among nearly 1,750 participants, those with a CAC score of 0 had just a 0.5% risk of major heart issues, while those with scores of 400 or higher experienced a 6.8% risk, indicating that higher CAC scores are linked to more severe heart disease and greater need for medical interventions. This matters because it helps doctors identify which patients are at a higher risk for serious cardiovascular events, allowing for better management and treatment plans. Who this helps: Patients with stable chest pain and their doctors.

PubMed

Chromosome-scale Genome Assembly of the Rough Periwinkle Littorina saxatilis.

2024

Genome biology and evolution

De Jode A, Faria R, Formenti G, Sims Y, Smith TP +6 more

Plain English
This study focused on a type of sea snail called Littorina saxatilis, which shows different forms based on the environment it lives in. Researchers created a more complete version of its genome, which is now 1.35 billion base pairs long and organized into 17 chromosomes, improving its completeness from 80.1% to 94.1%. This better understanding of its genetic makeup is important because it can help scientists learn how these snails adapt to their surroundings and evolve into different types. Who this helps: This benefits researchers studying evolution and adaptation in marine organisms.

PubMed

Clinician response after receipt of abnormal pediatric ambulatory blood pressure monitoring - characteristics associated with inertia and action.

2024

Pediatric nephrology (Berlin, Germany)

van Gelderen E, Psoter KJ, Faria R, Pruette C, Brady TM

Plain English
This study looked at how doctors responded to abnormal blood pressure readings in children and teenagers (ages 5 to 22) after monitoring their blood pressure for 24 hours. Out of 115 patients, 84% received some form of follow-up action from their doctors, with changes in medication being the most common action taken 52% of the time. Importantly, while most doctors did respond to abnormal results, 16% of patients still didn't have any documented follow-up, highlighting that advice on sticking to medication and lifestyle changes was rarely offered. Who this helps: This research benefits pediatric patients and their healthcare providers by identifying areas for improvement in managing high blood pressure.

PubMed

Subclinical choroidal involvement in Systemic Lupus Erythematosus.

2024

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Ferreira A, Viveiros L, Faria R, Abreu AC, Santos D +4 more

Plain English
This study looked at the eyes of patients with Systemic Lupus Erythematosus (SLE) to see if there were any hidden changes in the choroid, a layer of blood vessels in the eye. They found that SLE patients had a higher choroidal vascularity index (CVI), meaning more blood vessels, compared to healthy individuals, with a statistical significance of 0.022. This matters because it reveals that even when SLE is not actively affecting the eyes, there can still be changes that might impact eye health over time. Who this helps: This benefits patients with SLE by improving understanding of eye health related to their condition.

PubMed

Enhancing diagnostic yield in MINOCA: The critical timing of cardiac magnetic resonance.

2024

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

Faria R

PubMed

Selection against domestication alleles in introduced rabbit populations.

2024

Nature ecology & evolution

Andrade P, Alves JM, Pereira P, Rubin CJ, Silva E +17 more

Plain English
This study looked at how domestic rabbits adapt when they are released into the wild in different parts of the world. Researchers analyzed the DNA of 297 rabbits from three continents and found that traits linked to domestication, like certain physical characteristics, tended to be selected against in the wild. Specifically, genetic features that are harmful in natural settings were mostly absent, while some traits, like coat color changes, persisted at low frequencies. Understanding these changes helps in managing wild rabbit populations better, especially since they can be invasive. Who this helps: This research benefits ecologists and wildlife managers working to control invasive species.

PubMed

Evidence That a Peptide-Drug/p53 Gene Complex Promotes Cognate Gene Expression and Inhibits the Viability of Glioblastoma Cells.

2024

Pharmaceutics

Neves A, Albuquerque T, Faria R, Santos CRA, Vivès E +7 more

Plain English
Researchers studied a new treatment for glioblastoma, the deadliest brain cancer, by combining a cancer drug called temozolomide with a gene therapy that increases p53 gene expression. They found that this combination led to increased cell death in cancer cells—specifically noting that the treatment triggers specific proteins related to cell death. This approach could significantly improve outcomes for patients with glioblastoma by making current treatments more effective. Who this helps: This helps patients with glioblastoma and their doctors.

PubMed

Psychological impact of life events in systemic lupus erythematosus patients - Differences between flares and remission.

2024

Lupus

Faria R, Guimarães de Oliveira D, Alves R, Farinha F, Pinho Costa P +2 more

Plain English
This study looked at how life events affect the mental well-being of women with systemic lupus erythematosus (SLE), especially during times of flare-ups and remission. Researchers found that 21.3% of the 47 patients had recent flares, and those patients reported experiencing fewer life events, regardless of their overall stress and anxiety levels, which were notably high in the group overall (42.2% had high stress, 48.9% showed anxiety symptoms). Understanding these patterns is important as it highlights how psychological factors and stress perception vary for lupus patients during different disease phases. Who this helps: This helps lupus patients and their healthcare providers by highlighting the psychological dimensions of their condition.

PubMed

Upgrading Mitochondria-Targeting Peptide-Based Nanocomplexes for Zebrafish In Vivo Compatibility Assays.

2024

Pharmaceutics

Faria R, Vivès E, Boisguérin P, Descamps S, Sousa  +1 more

Plain English
This study focused on improving delivery systems for mitochondrial gene therapy using special peptide-based nanocomplexes that can target mitochondria. The researchers created new versions of these nanocomplexes and found they were safe, compatible with human cells, and effective at delivering genes specifically to mitochondria, resulting in a significant increase in mitochondrial protein levels. Importantly, the complexes were successfully tested in zebrafish embryos without causing any harmful effects or disrupting their growth, suggesting a promising future for this technology in gene therapy. Who this helps: This benefits researchers working on mitochondrial gene therapies and potentially patients with mitochondrial diseases.

PubMed

Building a Portuguese coalition for biodiversity genomics.

2024

npj biodiversity

Marques JP, Alves PC, Amorim IR, Lopes RJ, Moura M +58 more

Plain English
Researchers in Portugal are studying the country's rich variety of plants and animals to help protect its biodiversity, which is threatened by climate change, invasive species, and more. They are collaborating to create detailed genetic information, or reference genomes, for six important species unique to Portugal, including some that are endangered. This work will support better conservation policies and help to preserve these species for the future. Who this helps: This benefits conservationists, researchers, and anyone interested in protecting Portugal's natural heritage.

PubMed

Challenges and opportunities for identifying people with familial hypercholesterolemia in the UK: Evidence from the National FH PASS database.

2024

Journal of clinical lipidology

Cox E, Faria R, Saramago P, Haralambos K, Watson M +3 more

Plain English
This study looked at how well the UK is identifying people with familial hypercholesterolemia (FH), a genetic condition that leads to high cholesterol levels. It found that less than one-third of relatives of affected individuals are being tested for FH, which means many cases are being missed. The study highlighted that relatives living far from the FH services and men are less likely to be tested, suggesting that better outreach and direct contact could increase testing rates and diagnosis. Who this helps: This benefits patients with familial hypercholesterolemia and their families by identifying more individuals at risk.

PubMed

Coupling of twelve putative chromosomal inversions maintains a strong barrier to gene flow between snail ecotypes.

2024

Evolution letters

Le Moan A, Stankowski S, Rafajlović M, Ortega-Martinez O, Faria R +2 more

Plain English
This study focused on marine snails on a Swedish island that are divided into two types: "large" and "dwarf," which thrive in different wave conditions. The researchers found 12 chromosomal changes (called inversions) across the snails' genomes that help prevent mixing between the two types; specifically, 9 of these inversions were strongly fixed, meaning they are mostly found in one type or the other. This finding is significant because it shows how genetic changes maintain differences between species, helping us understand how new species form and evolve. Who this helps: This research benefits biologists studying evolution and conservation efforts aimed at protecting distinct species.

PubMed

The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back.

2024

Autoimmunity reviews

Lamas A, Faria R, Marinho A, Vasconcelos C

Plain English
This study looked at systemic lupus erythematosus (SLE), a complex autoimmune disease, and how it can also involve inflammation and immune system deficiencies. Researchers found that genetic, hormonal, and environmental factors all play a role in how SLE affects patients, which can result in varied symptoms and conditions that may overlap with other immune disorders. Understanding these connections is important for improving diagnosis and treatment, allowing for more personalized care for individuals with SLE. Who this helps: This helps patients with systemic lupus erythematosus and their doctors.

PubMed

Retinal microvascular changes in systemic lupus erythematosus assessed by optical coherence tomography angiography.

2024

International journal of retina and vitreous

Ferreira A, Viveiros L, Faria R, Bragança F, Abreu AC +5 more

Plain English
The study looked at the tiny blood vessels in the eyes of patients with Systemic Lupus Erythematosus (SLE) using a special imaging technique. They found that these patients had significantly lower blood vessel density and total vessel length compared to healthy individuals, with important measurements showing a reduction in vessel diameter and complexity. Understanding these changes is important because they highlight potential damage to the eye's blood vessels in SLE patients, which could impact their health even if they don’t show obvious symptoms. Who this helps: This helps patients with SLE and their doctors by providing insights into eye health issues related to the disease.

PubMed

Population Genomics Reveals the Underlying Structure of the Small Pelagic European Sardine and Suggests Low Connectivity within Macaronesia.

2024

Genes

da Fonseca RR, Campos PF, Rey-Iglesia A, Barroso GV, Bergeron LA +13 more

Plain English
This study examined the genetic differences among European sardine populations across a large area, from the Eastern Mediterranean to the Azores. Researchers found at least three distinct genetic groups of sardines, with individuals from the Azores and Madeira forming one group and those from the Mediterranean forming another. Understanding these genetic structures helps manage sardine populations more effectively, which is crucial for ensuring sustainable fishing practices. Who this helps: This benefits fishery managers and conservationists working to protect sardine populations.

PubMed

Impact of Coronary Artery Calcium Score Screening on Cardiovascular Risk Stratification of Patients with Atrial Fibrillation Undergoing Ablation.

2023

Cardiology

Fernandes S, Cruz I, Faria R, Almeida J, Fonseca P +4 more

Plain English
This study looked at how screening for coronary artery calcium (CACS) affects the assessment of heart disease risk in patients with atrial fibrillation who are preparing for a specific heart procedure called ablation. Among the 474 patients, over half (54%) showed a CACS greater than zero, indicating increased risk for coronary artery disease, which led to recommendations for preventive therapies: about 25% could benefit from statin medication, and 17% might need changes in their current statin treatment. This is important because better risk assessment can help doctors create more effective treatment plans for heart health. Who this helps: This benefits patients with atrial fibrillation and their doctors by providing clearer guidelines for managing their heart health.

PubMed

Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.

2023

The Journal of allergy and clinical immunology

Fayand A, Cescato M, Le Corre L, Terré A, Wacheux M +21 more

Plain English
This study looked at a rare condition called Cryopyrin-associated periodic syndrome (CAPS) in 14 patients who had a specific genetic change in the NLRP3 gene, at a position known as Y861. Unlike typical CAPS patients, these individuals had less skin rashes and more hearing loss, and their immune cells released more of a substance called IL-1β, especially when prompted by signals. These findings are important because they help identify a unique form of CAPS that requires different management than the more common types. Who this helps: This helps patients with atypical CAPS and their doctors.

PubMed

Economic evaluation of self-help group interventions for health in LMICs: a scoping review.

2023

Health policy and planning

Ochalek J, Gibbs NK, Faria R, Darlong J, Govindasamy K +6 more

Plain English
This review looked at various studies assessing how effective self-help groups (SHGs) are for improving health in low and middle-income countries. Out of nine studies analyzed, many focused solely on health benefits, with only four measuring broader impacts. The findings show that while SHGs could be beneficial, the available research often does not provide enough information for decision-makers to confidently choose to fund these programs. Who this helps: This benefits healthcare decisions makers and funders looking to invest in effective health interventions.

PubMed

The Impact of Chromosomal Rearrangements in Speciation: From Micro- to Macroevolution.

2023

Cold Spring Harbor perspectives in biology

Lucek K, Giménez MD, Joron M, Rafajlović M, Searle JB +3 more

Plain English
This research examined how changes in chromosomes (called chromosomal rearrangements or CRs) influence the process of species formation, both on a small scale (microevolution) and a larger scale (macro-evolution). The study found that while previous evidence mostly focused on closely related species, there is a need for better methods to analyze chromosomal changes across a wider range of species. Understanding these genetic changes is crucial because they help explain how new species arise and diversify over time. Who this helps: This research helps scientists studying evolution and biodiversity.

PubMed

A violist with asymmetrical Raynaud's phenomenon.

2023

Rheumatology advances in practice

Silva BC, Leão M, Nascimento ML, Ferreira I, Dias R +2 more

PubMed

Computed Tomography Versus Invasive Coronary Angiography in Patients With Diabetes and Suspected Coronary Artery Disease.

2023

Diabetes care

Benedek T, Wieske V, Szilveszter B, Kofoed KF, Donnelly P +77 more

Plain English
This study compared two methods for checking heart problems in people with diabetes who have stable chest pain: a non-invasive test called cardiac computed tomography (CT) and a more invasive procedure called coronary angiography (ICA). After analyzing the results from over 3,500 patients, researchers found that while both methods led to similar overall heart event rates (MACE), those with diabetes who underwent the CT test had fewer additional complications and heart issues compared to those who had the ICA test (3.8% vs. 8.2%). This is important because it suggests that starting with a CT scan might be safer for diabetic patients when exploring chest pain. Who this helps: Patients with diabetes experiencing chest pain.

PubMed

How chromosomal inversions reorient the evolutionary process.

2023

Journal of evolutionary biology

Berdan EL, Barton NH, Butlin R, Charlesworth B, Faria R +14 more

Plain English
This study looks at chromosomal inversions, which are changes in the order of genes on a chromosome that can impact how species evolve and adapt. The researchers found that inversions can play a significant role in adaptation and speciation, making it hard to analyze their effects due to the way they influence genetic mixing. Understanding these complex processes can help clarify how organisms evolve over time, which is important for everything from conservation efforts to breeding programs. Who this helps: This research benefits scientists and researchers studying evolution and genetics.

PubMed

Frequent Co-Authors

Theodora Benedek Patrick Donnelly Andrejs Erglis Matthias Gutberlet Jonathan D Dodd Ignacio Diez Gershan Davis Elke Zimmermann Radosav Vidakovic Marco Francone

Physician data sourced from the NPPES NPI Registry . Publication data from PubMed . Plain-English summaries generated by AI. Not medical advice.