An innovative study led by the Digestive Pathology Service of Hospital de Sant Pau, in collaboration with other services and institutions, has revealed that a combination of home exercise, branched-chain amino acids, and probiotics can significantly improve frailty in patients with cirrhosis. Published in the prestigious journal Hepatology Communications, this study opens new perspectives for people suffering from this complex liver disease.

The researchers, including professionals from the Physical Medicine and Rehabilitation, Pharmacy, and Biochemistry Services, the Sant Pau Research Institute, and the Sant Pau University School of Nursing, focused on frailty, a critical factor that predicts hospitalizations, falls, and mortality in patients with cirrhosis, regardless of the degree of liver insufficiency.

During the study, which involved 32 outpatient cirrhosis patients, they were classified as frail or pre-frail according to the Hepatic Frailty Index. These patients were divided into two groups: an intervention group that followed a home exercise program, branched-chain amino acid supplements, and multi-species probiotics for twelve months, and a control group that received standard care.

The results were very promising, as the patients in the intervention group showed a significant improvement in their frailty, with a notable reduction in Hepatic Frailty Index scores over the year. Additionally, this long-term non-pharmacological intervention also reduced the incidence of falls and emergency room visits.

These findings highlight the importance of a holistic approach in the treatment of cirrhosis, demonstrating that simple and accessible interventions can have a significant impact on health outcomes and patients’ quality of life.

As a direct result of the benefits observed in the study, a new care program has been launched this week at Hospital de Sant Pau. This program combines home exercise through a mobile application and the use of branched-chain amino acids, aiming to improve the prognosis and quality of life of patients with cirrhosis. The Digestive Pathology, Physical Medicine and Rehabilitation, and Pharmacy Services of the hospital are responsible for this initiative.

This program marks an important step towards implementing new treatment strategies that could benefit an increasing number of cirrhosis patients, highlighting the effectiveness of non-pharmacological interventions in improving their health and well-being.

Dr. Roser Torra Balcells, a researcher in the Nephrology Research Group at the Sant Pau Research Institute (IR Sant Pau) and nephrologist at the Puigvert Foundation, assumes the presidency of the European Renal Association (ERA) representing over 26,000 nephrologists from across Europe during the 61st edition of the annual congress held from May 23-26 in Stockholm (Sweden).

With this appointment, Dr. Torra is the first woman to hold this position, and her first statement was addressed to all patients suffering from kidney disease: “Our primary focus will be on the well-being of kidney patients, and this will guide all our actions and initiatives.” In this regard, her commitment is to improve patient care by promoting the clinical application of the latest scientific advances through training and dissemination among professionals, but also by raising government awareness of the social and economic impact of chronic kidney disease (CKD). According to Dr. Torra, “the results of recent clinical studies published in leading scientific journals, such as the New England Journal of Medicine, indicate that we are at a peak moment in nephrology with the development of new therapies to treat chronic kidney disease.” In this context, she adds that “the ERA will not hesitate to put all means in place to help raise awareness among governments and public health institutions to direct efforts and resources towards the early diagnosis of chronic kidney disease.”

Furthermore, equity and inclusivity are, according to the new ERA president, at the forefront of the presidency’s actions, not only concerning professionals but also towards the people they serve: “We need to include everyone, regardless of their background, gender, and condition. Our patients should not suffer from health inequities.” Although the Association does not adopt any political ideology, Dr. Torra points out that “as medical professionals, we are committed to helping people, especially those with kidney disease who are in vulnerable situations as victims of natural or human-caused disasters,” referring to the Kidney Aid in Disasters working group.

Finally, innovation will be the third priority axis during the next triennial to be a “living association, capable of leveraging the latest technologies and new knowledge and providing them to its members; an association with a vision for the future.”

Equity, Collaboration, and Optimism Mark the Beginning of the Next Triennial of the Era

The first action of the new presidency has been the launch of the “Women of ERA” (WERA) working group, with the aim of raising awareness in the medical community and society about gender equality in the field of nephrology. In a context where the growing presence of women in medicine is not reflected in the number of principal investigators or speakers at medical-scientific conferences, nor represented in leadership and decision-making positions or opinion leaders, WERA will encourage female nephrologists to contribute to research and scientific dissemination.

Another line of work that will be initiated is to strengthen institutional relationships with national societies—such as the Spanish Society of Nephrology (SEN)—where the ERA can serve as an umbrella for societies and a meeting point to discuss their differences and difficulties.

Finally, Dr. Torra aims to establish spaces for dialogue and exchange between nephrologists of all ages and backgrounds from Europe and the Mediterranean basin. “I have seen many young people at this edition of the annual ERA congress; they are the future of nephrology, and I see a truly bright future for our specialty,” she predicts.

Dr. Roser Torra is a Professor of Medicine at UAB. She embarked on her journey in the field of CKD in 1994 and completed her doctorate on Autosomal Dominant Polycystic Kidney Disease (ADPKD) in 1997. Since then, she has been deeply involved in both clinical practice and research, focusing on diseases such as ADPKD, Fabry disease, Alport syndrome, CET, cystinosis, and FSGS, among other rare diseases. With over 200 national and international publications on kidney diseases, Dr. Torra has made significant contributions in this field.

Dr. Torra’s involvement goes beyond research and clinical practice. She is currently actively participating in numerous trials and projects on hereditary renal disorders, both nationally and internationally, while also supervising doctoral theses on HRDs. She also acts as a reviewer/advisor in this field for various journals, meetings, project evaluation agencies, and government policy bodies. Her expertise has been recognized in several KDIGO meetings. Dr. Roser Torra is also the coordinator of the Spanish research network (RICORS2040) and the European Reference Network (ERKnet).

A study led by Dr. Dídac Mauricio, head of the Endocrinology, Diabetes, and Nutrition Group at the Sant Pau Research Institute (IR Sant Pau) and the Endocrinology and Nutrition Service at Sant Pau Hospital, in collaboration with various groups from CIBERDEM, has revealed the significant association of 54 lipids with type 1 and type 2 diabetes, as well as their differentiation by sex and glycemic status. This work has been published in the journal Cardiovascular Diabetology and has had the collaboration of the CIBER-BBN team from B2SLab at the Polytechnic University of Catalonia.

The study, which involved 360 individuals with type 1 diabetes, type 2 diabetes, prediabetes, and normoglycemia as controls, employed ultra-high-performance liquid chromatography coupled with mass spectrometry to detect 9,279 lipid features. In total, 54 lipids were identified as significantly associated with type 1 diabetes, type 2 diabetes, and sex differences, in addition to 14 lipids related to glycemic status.

According to Dr. Mauricio, “this work represents an important step towards understanding the underlying mechanisms of diabetes and its variations by sex. Our findings suggest an intimate connection between certain lipids and the pathophysiology of the disease, which could open new therapeutic avenues and preventive strategies.”

The study has revealed connections between specific lipids and underlying molecular mechanisms in both forms of diabetes. Additionally, ceramides related to insulin resistance in type 2 diabetes were found, and their progressive increase related to glycemic status suggests an association with disease progression. Notably, greater overexpression of ceramides was observed in women with type 2 diabetes compared to men, which could be related to the average age of the female population in the study and its link to menopause and cardiovascular and renal comorbidities.

According to the researchers leading this article, the work, “in addition to contributing to the detailed knowledge of lipids associated with both types of diabetes and glycemic status, highlights the importance of conducting sex differentiation in studies of these diseases, as well as establishing sex-specific strategies in the control and research of diabetes and its associated comorbidities. Furthermore, it points to the relevance of lipidomics in advancing personalized medicine.”

Reference article

Barranco-Altirriba, M., Alonso, N., Weber, R.J.M. et al. Lipidome characterisation and sex-specific differences in type 1 and type 2 diabetes mellitus. Cardiovasc Diabetol 23, 109 (2024). https://doi.org/10.1186/s12933-024-02202-5

With the collaboration of:

Dr. Maria Sabater-Lleal, Miguel Servet researcher of the Genomics of Complex Diseases group of the Sant Pau Research Institute (IR Sant Pau) has been recognized with the Karl Link Early Career Investigator Award in Thrombosis, an outstanding honor awarded by the editors of the scientific journal Arteriosclerosis, Thrombosis, and Vascular Biology. This award recognizes his exceptional work in the study of new genetic loci that regulate plasma levels of antithrombin, protein C and protein S and his scientific career in the field of thrombosis.

The article by Dr. Sabater-Lleal, has been selected as the best article published during 2023 in the Thrombosis section of the magazine, out of the 355 manuscripts presented this year to opt for this award.

Dr. Sabater-Lleal was honored during the Vascular Discovery Conference, which took place from May 15 to 18, 2024 in Chicago, Illinois (United States) where she had the opportunity to present her work in a plenary session.

A study by the Parkinson’s Disease and Movement Disorders Research Group at the Sant Pau Research Institute (IR Sant Pau), led by Dr. Jaume Kulisevsky, concludes that music therapy is an effective tool in the psychosocial treatment and speech rehabilitation for people with Parkinson’s disease. The results were presented in Leicester by researcher and music therapist Judit Soler Almendros during the BAMT 2024 Congress (British Association for Music Therapy).

The research focused on the ParkinSongs choir and evaluated the significance it holds for participants, as well as the benefits of music therapy at the vocal, cognitive, emotional, and social levels. This evaluation was carried out with the aim of better understanding the effectiveness of music therapy as a psychosocial treatment and speech rehabilitation for people with this neurodegenerative disease.

The evaluation consisted of a questionnaire and small discussion groups involving most members of the ParkinSongs choir. The information obtained was processed through a reflexive thematic analysis, identifying five main themes: sense of belonging, music, voice, disease progression, and mood.

Key results highlight that participants indicate music helps them disconnect from daily worries and serves as a point of connection between members. From the perspective of the disease, participation in the choir is considered an essential tool for reducing the progression of speech difficulties and helps them better cope with everyday symptoms. Additionally, participants report that choir rehearsal days are better, with fewer “off” periods, and they always feel better after singing.

Dr. Carmen Garcia-Sánchez, a researcher at IR and neuropsychologist at the Neurology Service of Sant Pau Hospital, indicates that these results suggest that music therapy can be an effective tool in the psychosocial treatment and speech rehabilitation in Parkinson’s disease. The findings provide evidence of the usefulness of integrating music therapy into the treatment of these patients, highlighting its benefits not only in reducing physical and physiological symptoms but also in improving their emotional and social well-being.

A research work by Dr. Maria Borrell, from the Molecular Pathology and Therapeutics of Atherothrombotic and Ischemic Diseases group at the Sant Pau Research Institute, has been recognized as Editor’s Choice by the prestigious journal Cardiovascular Research. The article highlights important advances in the understanding of cholesterol homeostasis in the brain and its impact on neuronal function.

Dr. Borrell, along with Drs. Aureli Luquero, Gemma Vilahur, Teresa Padró and Lina Badimon, have explored the regulation of cholesterol homeostasis in the brain and the role of lipoprotein receptors of the LDL receptor family (LRPs) in neuronal cells. Using murine models and cell lines, the research team analyzed the expression of LRP5 and components of its downstream signaling pathway, the canonical Wnt pathway, in the context of intracellular lipid accumulation and neuronal function.

The findings reveal that, although LRP5 expression increases in response to lipid loading in neuronal cells, this receptor does not significantly participate in cholesterol homeostasis. However, LRP5 has been shown to trigger the canonical Wnt signaling pathway in neuronal cells, generating pro-survival signals. Furthermore, the results suggest a protective role of LRP5 against oxidative stress and apoptosis in neurons.

This study provides new insights into lipid transport and accumulation in neuronal cells, as well as signaling mechanisms involved in neuronal survival. The results have important implications for the understanding of neurodegenerative disorders and the development of new therapeutic strategies.

Recognition as Editor’s Choice by Cardiovascular Research underscores the relevance and impact of this work in the field of cardiovascular and neuroscience research. Dr. Borrell and her team continue to advance the understanding of the fundamental biological processes underlying cardiovascular and neurological diseases, offering new perspectives to improve human health.

Reference article

Maria Borrell-Pages, Aureli Luquero, Gemma Vilahur, Teresa Padró, Lina Badimon, Canonical Wnt pathway and the LDL receptor superfamily in neuronal cholesterol homeostasis and function, Cardiovascular Research, Volume 120, Issue 2, January 2024, Pages 140–151, https ://doi.org/10.1093/cvr/cvad159

Researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, led by Dr. Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene -APOE4 homozygotes- show biological characteristics of Alzheimer’s pathology in the brain or biomarkers of this disease in cerebrospinal fluid and PET scans.

The study, published today in Nature Medicine, also concludes that those individuals homozygous for APOE4 also develop the disease earlier than those with other variants of the APOE gene. These findings suggest that having two copies of the APOE4 gene could represent a new genetic form of Alzheimer’s disease, as explained by Dr. Fortea.

“These data represent a reconceptualization of the disease or what it means to be homozygous for the APOE4 gene. This gene has been known for over 30 years and it was known to be associated with a higher risk of developing Alzheimer’s disease. But now we know that virtually all individuals with this duplicated gene develop Alzheimer’s biology. This is important because they represent between 2 and 3% of the population,” explains this researcher.

New paradigm

It is known that mutations in three genes, APP, PSEN1, and PSEN2, are involved in the development of autosomal dominant early-onset Alzheimer’s disease -which is clearly considered genetic and can appear from the age of 40- while variants of other genes have been associated with an increased risk of developing sporadic or late-onset forms. Additionally, it was already known that APOE was one of the genes considered the strongest genetic risk factor for late-onset Alzheimer’s disease.

In this work, researchers evaluated clinical, pathological, and biomarker changes in APOE4 homozygotes to determine their risk of developing Alzheimer’s disease. They used data from 3,297 brain donors, including samples from 273 APOE4 homozygotes from the National Alzheimer’s Coordinating Center (United States) and clinical and biomarker data from over 10,000 individuals, including 519 APOE4 homozygotes from five large multicenter cohorts from Europe and the United States -among them the Pasqual Maragall Foundation- of subjects with Alzheimer’s disease biomarkers.

The results suggest that virtually all APOE4 homozygotes showed Alzheimer’s pathology and had higher levels of disease-associated biomarkers at age 55 compared to individuals with the APOE3 gene. At age 65, over 95% of APOE4 homozygotes showed abnormal levels of amyloid in cerebrospinal fluid – a key early pathological feature in Alzheimer’s disease – and 75% had positive amyloid scans.

Based on these results, the authors suggest that the genetic variant of the APOE4 gene is not only a risk factor for Alzheimer’s disease, as previously thought, but could also represent a distinct genetic form of Alzheimer’s disease.

“This reconceptualization of the disease is similar to what we proposed from Sant Pau with Down syndrome, which a few years ago was also not considered a genetically determined form of Alzheimer’s,” adds Dr. Fortea.

The authors note that these findings could be useful for the development of individualized prevention strategies, clinical trials, and targeted treatment approaches for this specific population. In this regard, Dr. Alberto Lleó, a researcher in the Dementia Neurobiology Group at the Sant Pau Research Institute and Director of the Neurology Service at the same hospital, points out that “the data clearly show that having two copies of the APOE4 gene not only increases the risk, but also anticipates the onset of Alzheimer’s, reinforcing the need for specific preventive strategies.”

On his behalf, researcher Dr. Víctor Montal, who actively participated in this study during his time at Sant Pau and now studies the molecular structure of the APOE gene at the Barcelona Supercomputing Center, adds that “the findings emphasize the importance of monitoring APOE4 homozygotes from an early age for preventive interventions.”

With the collaboration of the Spanish Foundation for Science and Technology – Ministry of Science, Innovation and Universities.

Reference article

Juan Fortea, Jordi Pegueroles, Daniel Alcolea, Olivia Belbin, Oriol Dols-Icardo, Lídia Vaqué-Alcázar, Laura Videla, Juan Domingo Gispert, Marc Suárez-Calvet, Sterling C. Johnson, Reisa Sperling, Alexandre Bejanin, Alberto Lleó , Víctor Montal. APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease. Nature Medicine, 2024. DOI: 10.1038/s41591-024-02931-w

Researchers from the Inflammatory Diseases group at the Sant Pau Research Institute (IR Sant Pau) participated in a multicenter study that has identified a new primary immunodeficiency or innate error of immunity. Primary immunodeficiencies are a group of over 500 genetic diseases that cause quantitative or functional defects in different components of the immune system, increasing susceptibility to infections, autoimmunity, and cancer. Specifically, this new disease causes a deficiency of B cells and alters the architecture of the immune system, affecting both cellular and humoral immunity.

This week, between April 22nd and 29th, marks the World Primary Immunodeficiency Week, an opportunity to raise awareness about this group of rare diseases that affect more than 1 million people worldwide.

Experts from various research centers in Spain, such as the IdiPAZ Health Research Institute at La Paz University Hospital, members of the Interdepartmental Group of Immunodeficiencies of Madrid, and the Biomedical Research Networking Center for Rare Diseases (CIBERER), as well as a group from the United States, participated in the study.

The study details the case of a patient with a primary immunodeficiency of unknown genetic origin. Through complete exome sequencing, researchers identified a homozygous mutation in the EZR gene, which encodes the protein known as ezrin. This mutation, called A129T, involves the substitution of the amino acid threonine with alanine at position 129.

Ezrin and its impact on the immune system

Ezrin is a protein associated with F-actin and is part of the ERM complex along with radixin and moesin. This complex acts as a link between the plasma membrane and the cytoskeleton, playing a crucial role in an efficient immune response, but with a significant role in many other cell types and tissues. The A129T mutation discovered in the patient impedes basal ezrin phosphorylation and decreases intracellular calcium signaling, causing a disruption of its function. Therefore, the presence of this mutation impacts multiple agents of the immune system and compromises its ability to defend the body against infections and diseases.

Dr. Oscar de la Calle, from the Inflammatory Diseases group at IR Sant Pau and principal investigator of the study, points out that “our results indicate that autosomal recessive ezrin deficiency in humans is a newly recognized genetic cause of lymphocyte deficiency affecting both cellular and humoral immunity. These new findings provide new perspectives for understanding and addressing immunological deficiencies, but also illustrate the difficulties in vaccine response in oncology patients after immunomodulatory treatments and after hematopoietic progenitor transplantation.”

This expert highlights the importance of studying patients with immunodeficiency to better understand both these rare diseases and the much more common situations of immunofragility. Furthermore, he explains that during the COVID-19 pandemic, the vulnerability of certain populations, such as the elderly, pregnant women, and chronic patients, particularly oncology patients, became apparent. These individuals share the presence of a more vulnerable immune system.

“Primary immunodeficiencies are well-established diseases, with very clear diagnostic criteria. Most have a known genetic cause. In fact, mutations in over 500 genes are currently described, with the particularity that many are among the few currently curable genetic diseases. To give us an idea of the scale, they are responsible for one in every 13 or 14 liver diseases. But we know that from the age of 50 or 60, there is a process called immunosenescence, which is the decrease in immune response that occurs during aging. Research into mutations that cause primary immunodeficiency helps us improve the diagnosis and treatment of fragile patients and also better understand the mechanisms behind the physiological process of senescence,” explains Dr. de la Calle.

Reference article

Blanca García-Solís, Ana Van Den Rym, Laura Martínez-Martínez, Teresa Franco, Jareb J. Pérez-Caraballo, Janet Markle, Carolina Cubillos-Zapata, Ana V. Marín, María J. Recio, José R. Regueiro, Alfonso Navarro-Zapata, Carmen Mestre-Durán, Cristina Ferreras, Carla Martín Cotázar, Rocío Mena, Carlos de la Calle-Fabregat, Alberto López-Lera, Miguel Fernández Arquero, Antonio Pérez-Martínez, Eduardo López-Collazo, Silvia Sánchez-Ramón, Jean-Laurent Casanova, Rubén Martínez-Barricarte, Oscar de la Calle-Martín, Rebeca Pérez de Diego. Inherited human ezrin deficiency impairs adaptive immunity, Journal of Allergy and Clinical Immunology, Volume 152, Issue 4, 2023, Pages 997-1009.e11, ISSN 0091-6749, https://doi.org/10.1016/j.jaci.2023.05.022.

With the collaboration of:

The European Joint Program on Rare Diseases has granted three international projects of great relevance to different groups of the Sant Pau Research Institute. These projects, selected through the joint transnational call EJP RD 2023, address several challenges in minority and autoimmune diseases, emphasizing the improvement of diagnosis and treatment.

The first project, called ADTKD-Net, focuses on autosomal dominant tubulointerstitial nephropathy. This disease, characterized by tubular damage and interstitial fibrosis, represents a diagnostic and therapeutic challenge. Researchers from the Nephrology group, led by Dr. Roser Torra, coordinator of minority renal and genitourinary diseases at the Puigvert Foundation, will work on the creation of a European registry of cases to better understand the progression of the disease and identify prognostic biomarkers, opening the door to future personalized therapies.

The second project, OptiMyG, focuses on myasthenia gravis, an autoimmune disease that affects signal transmission between nerves and muscles. Through population studies, national registers and international collaborations, this project – in which Dr. Eduard Gallardo, researcher in the Neuromuscular Diseases group – seeks to identify long-term clinical predictors, evaluate the effectiveness of different treatments and develop immunological biomarkers to improve the stratification of the disease and the prediction of its severity.

The third project, CADANHIS, focuses on CADASIL, a hereditary disease that causes stroke and vascular dementia. This international project brings together experts from several countries, among the researchers are Dr. Israel Fernández and Dr. Elena Muiño, from the Pharmacogenomics and stroke genetics group. The aim of the project is to deepen the understanding of this rare disease and develop new diagnosis and treatment strategies. With a multidisciplinary and collaborative approach. In addition, CADANHIS aims to improve the quality of life of affected patients and offer new hope to their relatives.

With these initiatives, the Sant Pau Research Institute continues to bet on excellence in research into minority diseases, emphasizing international collaboration and the application of scientific results to improve the health of patients.

El Dr. Eduard Gallardo, investigador del Grup de Malalties Neuromusculars de l’Institut de Recerca Sant Pau, ha compartit els detalls de la seva participació en la recent presentació a Bilbao en el marc de la reunió anual de CIBERNED.

Durant la seva intervenció, el Dr. Gallardo va posar èmfasi en la importància de fomentar la col·laboració entre els diferents CIBERs des de l’Instituto de Salud Carlos III. Entre les seves propostes destacades es troben la facilitació de projectes de recerca amb grups del Programa de Malalties Neurològiques de CIBERER, així com amb altres programes relacionats amb aquestes patologies. També va destacar la importància de l’intercanvi de mostres per a la recerca, ja sigui introduint-les al biobanc de CIBERER o utilitzant la plataforma ENoD per a diagnosticar pacients amb malalties genètiques sense diagnòstic clar.

A més, el Dr. Gallardo va oferir el seu suport i assessorament per a facilitar els tràmits relacionats amb la designació de substàncies com a medicaments orfes, una tasca crucial en el camp de les malalties rares.

Aquesta iniciativa representa un pas fonamental cap a la millora de la investigació i el tractament de les malalties neurològiques, mostrant el compromís del Dr. Gallardo i del seu equip en la lluita contra aquestes patologies.

The Hall of Acts at the Sant Pau Hospital was chosen as the venue for the presentation of the innovative book “Art Therapy, the Art that Transforms,” on April 18th. The event featured the participation of Dr. Alfons Torrego, medical director of the hospital; Dr. Jordi Surrallés, director of the Sant Pau Research Institute; Dr. Antonio Pascual, head of the Palliative Care Service, and Josep Paris, specialist in Geriatric and Gerontological Nursing and Director of Development at Mémora.

The presentation was led by Gemma Bruna, author and editorial coordinator of the book, and Nadia Collete, art therapist at the hospital’s Palliative Care Unit and researcher in the Palliative Care group at the IR. Both shared how art can be a powerful bridge for well-being, especially in the final stages of life. The presentation was followed by a roundtable with firsthand testimonies from both patients and family members and a Q&A session that allowed for rich and emotional interaction with the attendees.

The event concluded with the distribution of copies of the book, marking a milestone in the promotion of Sant Pau Hospital’s art therapy program and reaffirming its commitment to integrating culture into the health and well-being of the community.

The COVID-19 pandemic has sparked extensive discussions about its effect on mental health. While global suicide rates remained stable during the pandemic, the specific impact on non-lethal suicidal behaviors, namely, ideation or suicide attempts that are survived, during and after the pandemic had not been explored.

A new study, led by Dr. Víctor Serrano-Gimeno from the Mental Health Research Group of the Sant Pau Research Institute (IR Sant Pau), reveals a significant increase in these behaviors after the lockdown. The study, published in The Lancet Psychiatry, analyzes data from a Catalan cohort from all hospitals in Catalonia collected through the Catalan Suicide Risk Code in three periods: the pre-lockdown period (January 1, 2018, until the implementation of the lockdown in Spain on March 14, 2020); the lockdown period (March 14, 2020, until the end of the lockdown on June 21, 2020); and the post-lockdown period (June 21, 2020, until December 31, 2022).

The results reveal a slight increasing trend in non-lethal suicidal behaviors from January 1, 2018, until March 13, 2020, followed by a reduction during the lockdown period and a 50.77% increase after the lockdown measures. These results highlight the prolonged impact of the pandemic on the population’s mental health. Dr. Serrano-Gimeno explains that “this study provides a comprehensive examination of non-lethal suicidal behaviors in Catalonia, highlighting the dynamics of the different phases of the COVID-19 pandemic.

The initial reduction during the strict quarantine may be explained because people have less access to methods of suicide, among other reasons. And the subsequent increase after the lockdown reflects complex factors, including social isolation and economic challenges.” Specifically, stratified data analyses indicated that the relaxation of the lockdown resulted in a significant increase in non-lethal suicidal behaviors among women – especially in the 18 to 30 age group – and among minors under 18.

These results underscore the need for preventive strategies targeted at these groups. Dr. Maria Portella, head of the Mental Health Research Group at IR Sant Pau, emphasizes the importance of this study because “it quantifies what we already suspected about mental health during the pandemic. It highlights the need for a perspective beyond mental illness to address suicidality, addressing it as a fundamental aspect of public health.”

For her, “this article highlights the much longer-term consequences of the decisions made during the pandemic. We quantify it, but it also puts a much broader focus on mental health in the sense that it wasn’t necessarily people with a psychiatric diagnosis. And this is very important because it shows that suicide is a much more global public health issue.”

In this regard, Dr. Narcís Cardoner, researcher from the Mental Health Research Group at IR Sant Pau and head of the Psychiatry Department at Sant Pau Hospital, adds that these results tell us many things that should be used to face similar situations better in the future. “It’s interesting that throughout the pandemic, physical health was markedly prioritized. And all strategies, for example, the lockdown itself, were aimed at reducing the risk of people getting infected with the virus. But we knew that the impact of these situations would go beyond. And there’s always talk of a fourth wave, which is the mental health problem. And it seems that we were somewhat oblivious to this situation. Data like those derived from this study say that physical health is very important, but there is no health without mental health, and it would have been essential to have made some provision for these impacts.”

He also emphasized that “sometimes what’s good for physical health isn’t always good for mental health. So here, looking to the future, we must propose more holistic approaches to similar situations. I think it’s an important lesson from what happened with the pandemic, especially considering that it mainly affected young women and minors. It’s a lesson whose effects we knew, we were aware of, but we were absolutely turning our backs on it. We somewhat overlooked it or denied it.”

In fact, the three experts agree that during the pandemic, other countries had more lenient lockdown measures “that seemed to not have a differentiated impact in the field of physical health, and we don’t know why because it’s true that mental health data seem to be quite generalizable worldwide.The impact of the pandemic, for example, in terms of the risk of depression, anxiety disorders, has been very marked worldwide. Rates, the prevalence of depression, and anxiety have increased. So, we’re identifying a very generalizable phenomenon.”

For them, it’s necessary that in future occasions much more global measures are considered “and to think of mental health as an essential part of health. Since the effects are not so immediate, perhaps we think they’re like second-level issues, as if they weren’t so important.”

Finally, Dr. Cardoner emphasizes the current pressure on the healthcare system: “You just have to go through our emergency rooms to see the saturation. This demonstrates that the pandemic has been a brutal stress test for an already fragile society. This study is important because it quantifies it. We all had this idea that mental health was doing terribly. And here we can confirm it with numbers. the situation has evolved as it has evolved.”

Dr. Serrano concludes that “the results show us that the consequences of large-scale social phenomena are profound, and this must be addressed from a public health perspective, not just psychiatry.”

With the collaboration of the Spanish Foundation for Science and Technology – Ministry of Science, Innovation and Universities.

Reference Article

Víctor Serrano-Gimeno, Alba Diestre, Marina Agustin-Alcain, Maria J Portella, Javier de Diego-Adeliño, Thaïs Tiana, Nora Cheddi, Alejandro Distefano, Guillermo Dominguez, Marina Arias, Victor Cardoner, Dolors Puigdemont, Victor Perez, Narcís Cardoner. Non-fatal suicide behaviours across phases in the COVID-19 pandemic: a population-based study in a Catalan cohort, The Lancet Psychiatry. Volume 11, Issue 5, 2024, Pages 348-358, ISSN 2215-0366, https://www.sciencedirect.com/science/article/abs/pii/S2215036624000658?via%3Dihub

A pioneering study carried out by researchers from the Sant Pau Research Institute and the Universitat Politècnica de Catalunya (UPC), in collaboration with the Barça Innovation Hub – the research and innovation area of FC Barcelona – has made it possible to relate, for the first time, how high-intensity sport affects genetic expression. Specifically, alterations have been detected in the immune system, the metabolism of amino acids, the generation of energy and the levels of oxidative stress in the body just after practicing high-intensity exercise.

The study, published by the prestigious scientific journal PlosOne Journals, has identified different profiles of recovery from the physical effort made during high-intensity exercise that allows, in a personalized way, to establish a new innovative way of distinguishing, in a same team, athletes depending on whether they are fast or slow recoverers depending on the expression of their genes.

The research has focused on analyzing the expression profile of the genes of the FC Barcelona handball team players, examining which genes are activated or inhibited depending on the physical effort of each player during the match and relating – him with the physical preparation and the ability to recover after a game.

The objective was to relate the levels of external load of athletes, caused by high-intensity sports activity, with the activation of all the genes in the genome of each individual.

Latest generation pioneering technique

This study is distinguished by being one of the first to use advanced sequencing techniques using NGS (Next-Generation Sequencing) that allow the expression of all genes in the genome to be analyzed in blood by analyzing mRNA levels, relying on sophisticated artificial intelligence algorithms to interpret the data obtained.

Dr. José Manuel Soria, head of the Genomics group for complex diseases at the Sant Pau Research Institute, comments that: “transcriptomics (expression of our genes) plays a crucial role in unraveling the molecular mechanisms associated with performance and recovery in sport, as demonstrated by our results”.

This expert, who is the main author of the study, adds that “with this information – the identification of key genes and the alteration of the pathways involved – applied to sport, health professionals will be able to develop specific interventions and customized to improve performance, recovery, as well as to reduce the risk of injury for each athlete. These results will also have a high impact on non-professional athletes who want to improve their goals or simply improve their health.”

A door to the sports medicine of the future

The technology used in this study opens the door to a wide range of applications in the field of personalized medicine and the personalization of clinical interventions. Analyzing the transcriptomic profile of the athletes, it is possible to detect those alterations in the expression of the genes of each individual that hinder the processes of sports recovery and allows to optimize the performance of the players through personalized adaptive interventions, based on the characteristics specific to each of the athletes.

This advance not only benefits high-performance athletes, but also has potential implications in the field of general health and well-being by providing a more holistic and personalized approach to sports health care.

Reference article

Ezquerra Condeminas P, Mallol M, Font R, Tremps V, Gutiérrez JA, et al. (2024) Unraveling athletic performance: Transcriptomics and external load monitoring in handball competition. PLOS ONE 19(3): e0299556. https://doi.org/10.1371/journal.pone.0299556

With the collaboration of:

A study conducted by researchers from the Parkinson’s Disease and Movement Disorders Research Group at the Sant Pau Research Institute, led by Drs. Jaume Kulisevsky and Javier Pagonabarraga, has concluded that psychosis associated with Parkinson’s disease (PDP) not only arises as a complication of dopaminergic drug use but is intimately related to the brain alterations caused by the disease itself.

The study, published in the journal Nature Reviews Neurology, has identified a pattern of cortical atrophy involving various brain regions that would explain how new stimuli are incorrectly categorized and how aberrant hierarchical predictive processing can produce false perceptions that intrude on consciousness flow.

Psychosis associated with Parkinson’s disease (PDP) is a condition that causes illusions, hallucinations, and delusions in more than half of patients with this neurodegenerative disorder. Although it was long believed to appear in advanced stages of the disease and as a result of treatments, it is now known that it can manifest from early stages and follow a continuum ranging from minor hallucinations to structured hallucinations and delusions.

Dr. Javier Pagonabarraga, the lead researcher of the study, explains that “Parkinson’s patients not only face mobility problems but also mood disorders such as anxiety, depression, and apathy. During the course of the disease, between 40-60% of patients may also experience hallucinations, and less frequently some delusional episodes. Hallucinations and delusions are a hallmark of the disease, which has driven research towards a neurobiological model to better understand these phenomena.”

Initially, it was believed that Parkinson’s disease psychosis was mainly related to the use of dopaminergic medications. However, neuroimaging studies have provided a new perspective, demonstrating that this condition develops from the evolution of brain alterations. It has been discovered that the combined dysfunction of various brain systems, including attention control, sensory processing, limbic structures, along with anomalies in the default mode network and thalamo-cortical connections, create a conceptual framework for understanding how new stimuli can be misinterpreted, causing false perceptions that disrupt consciousness flow. Additionally, this brain dysfunction is exacerbated by the use of dopaminergic medications.

Dr. Pagonabarraga explains that “long before people experience severe hallucinations, they already begin to have more subtle and mild hallucinatory phenomena, which often go unnoticed. Thanks to our studies and those of other researchers, we can now identify these phenomena at an earlier stage, allowing us to intervene and address them before they become severe. It is much better to treat these manifestations when they start to emerge than when they have already fully developed and there is a significant loss of reality consciousness.”

This expert details that psychosis has two different types of symptoms: hallucinations – which are the most frequent in these patients – and delusions. It is a clinical characteristic unique to Parkinson’s disease “that has a very clear impact on the quality of life and has even been shown to increase mortality; therefore, understanding the neurobiological bases, that is, which circuits or which parts of the brain are the ones that cause or trigger a person to have hallucinations, is relevant beyond the disease.”

An Opportunity Window

Up to 60% of Parkinson’s patients present psychosis at some point in the disease, but symptoms do not start abruptly. Long before people have severe hallucinations, they already start to have more subtle and mild hallucinatory phenomena that often go unnoticed. “This, in a way, opens a temporal window where we can intervene by treating them before they evolve and become severe. It is much more effective to treat them when they begin to manifest than when they are already severe and involve the loss of reality consciousness,” adds Dr. Pagonabarraga.

Minor hallucinations are subtle forms of the disorder and can be primarily of two types. On the one hand, those known as presence hallucinations, “which is the sensation that someone is behind you, for example, near a shoulder, even though you know there is no one there. The other type is passage hallucinations, which is the sensation that something is passing by the sides of your body. And it happens, moreover, in a very stereotyped way: from behind forward. Patients have the sensation that there is something passing by the side of their body. Most of the time they say it’s the shadow of a person.”

A previous study by this same research group had already observed that these minor hallucinations were present in 40% of Parkinson’s patients from the first visit, that is, before taking any dopamine-raising drugs.

Dr. Pagonabarraga adds that as the disease progresses, the next step is structured visual hallucinations, “not in the periphery, but in the patient’s visual field. They see animals, people, they can sometimes see faces flying as if they had the silhouette of a flying person or sometimes they see elongated people with an indefinite face and a more defined body. Sometimes they can see small children, for example. And these hallucinations occur mainly inside their home. Initially, patients see them, but they know they are not true and it causes them some discomfort. But if we don’t treat them and do nothing, they tend to progress to more severe forms where they see them much more frequently and are no longer aware that they are false. That’s when they do generate a lot of agitation, concern, distress that needs to be treated with drugs that have a negative effect on the evolution of the disease and on the mortality of patients.” This is why it is important to start treating psychosis early.

These findings not only provide a better understanding of psychosis in Parkinson’s disease but also open the door to new therapeutic strategies that could significantly improve the quality of life of affected patients.

Reference Article:

Pagonabarraga J, Bejr-Kasem H, Martinez-Horta S, Kulisevsky J. Parkinson disease psychosis: from phenomenology to neurobiological mechanisms. Nat Rev Neurol. 2024 Jan 15. doi: 10.1038/s41582-023-00918-8.

With the collaboration of:

The prestigious journal The Lancet has invited Dr. Juan Fortea, director of the research area in Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, and director of the Memory Unit of the Neurology Service at the same hospital, to write the editorial published on the occasion of World Down Syndrome Day, highlighting the significant advancements in the quality of life and life expectancy of people with this condition. Dr. Fortea emphasizes the improvements achieved thanks to advances in healthcare and research, as well as increased social participation. However, he points out that inequalities in health outcomes still persist, attributable to a lack of awareness and training on Down syndrome among healthcare professionals, families, and other stakeholders, a problem exacerbated by structural factors such as social discrimination and inadequate service provision.

The editorial emphasizes the importance of overcoming these inequalities and appeals for a global approach that includes research, awareness, and inclusive policies. It highlights the urgent need for epidemiological data and resources specifically directed at meeting the health needs of people with Down syndrome worldwide, especially in low- and middle-income countries. Through the publication of this editorial in The Lancet, Dr. Fortea and his collaborators seek to inspire positive change, fostering a renewed commitment among researchers, healthcare professionals, policy makers, and the global community, to ensure a full and equitable life for all individuals with Down syndrome.

Reference article

Juan Fortea, Eimear McGlinchey, Joaquín M Espinosa, Michael S Rafii. Addressing challenges in health care and research for people with Down syndrome. The Lancet, 2024. ISSN 0140-6736, https://doi.org/10.1016/S0140-6736(24)00478-1.

The Parkinson’s Disease and Movement Disorders Research Group at the Sant Pau Research Institute (IR Sant Pau) has launched a scientific study to evaluate the potential cognitive, motor, and emotional effects and benefits of sports in patients with this neurodegenerative disease. The study is supported by the Golf with Parkinson Association, the Barcelona Golf Club, the Barcelona Golf Academy, and the Catalan Golf Federation. Over a period of two and a half months, a group of volunteer patients will engage in weekly sports sessions lasting an hour and a half, every Friday morning, at the Barcelona Golf Club. Additionally, on April 12, coinciding with World Parkinson’s Day, a charity tournament will be organized to raise funds for this study with the participation of patients.

The Golf with Parkinson Association was founded by Juan Carlos Campillo, a passionate golfer who was diagnosed with the disease three years ago. “I didn’t know what was happening to me. I was a handicap 5 and my game deteriorated so much that I couldn’t even count the strokes anymore.” Parkinson’s was already affecting his movements, much slower, with a swing speed nowhere near his usual. However, he sought ways to continue training and adapt his new physical condition to this sport. He asserts that “maintaining body mobility and physical activity is fundamental. And practicing sports helps a lot.”

With this objective in mind, the Sant Pau Research Institute and the Golf with Parkinson Association have initiated a pioneering study to analyze the benefits that playing this sport can bring to these patients. The research team is led by Dr. Carmen García-Sánchez, a researcher at the Sant Pau Research Institute and a neuropsychologist at the Neurology Service of the Hospital.

The doctor explains that “while there are pharmacological treatments and rehabilitation therapies available, it is important to explore complementary approaches that can improve the quality of life of these patients. Interventions based on sports and social activities are a therapeutic resource used to treat motor, emotional, and behavioral disorders in patients with Parkinson’s disease, and in this sense, sports could provide benefits. But it needs to be investigated to support its inclusion in their management.”

Rigorous methodology for evaluating potential benefits

It is estimated that 1 in every 100,000 people over 60 years of age will suffer from Parkinson’s disease. It is a chronic, progressive, and multisystemic pathology. Symptoms worsen over time – although the progression varies greatly among patients – and in the late stages, complications such as motor and non-motor fluctuations, dyskinesias (disorders of voluntary movements and appearance of involuntary abnormal movements), cognitive disorders, and behavioral disturbances may appear.

There are different causes that intervene in the onset of Parkinson’s disease. Mainly, the degeneration of neurons called dopaminergic, which produce abnormal patterns of nerve activation in the brain and cause deterioration of movement. But there are also other known and unknown causes. “Between 10% and 15% of cases are genetic – dominant and recessive – and these cases usually affect very young people, around 40 years old or even younger. We often think it is a disease of older people, from the age of 60 onwards, but young people also suffer from it,” explains Dr. Jaume Kulisevsky, director of the Parkinson’s Disease and Movement Disorders Research Group at the Sant Pau Research Institute and director of the Parkinson’s Disease and Movement Disorders Unit at the Neurology Service of Sant Pau Hospital.

Practicing a low-impact sport (walking, yoga, pilates, swimming, skating, cross-country skiing, golf, etc.) provides a comprehensive workout that promotes range of motion, activates muscles in the upper and lower body, flexibility, and balance, which has been shown to be useful in reducing falls in people with Parkinson’s disease. Additionally, it combines moderate physical activity, fine motor coordination, concentration, and strategy, elements that could help improve motor function, coordination, flexibility, balance, cognition, and mood.

How will the study be conducted?

The research, entitled “Observational Pilot Study of Golf Practice on Gait, Cognition, and Behavior in Parkinson’s Disease”, involves a group of volunteer patients with the pathology in an early or moderate and stable stage recruited from the Movement Disorders Unit and the Neuropsychology Unit of Sant Pau Hospital.

The study is financially supported by the Golf with Parkinson Association and has the support of the Barcelona Golf Club, the Catalan Golf Federation, and the Barcelona Golf Academy, which provides the technology and software necessary for data capture and measurement that will allow the analysis of patients’ progress.

Every Friday morning, a bus will pick them up at the Hospital and take them to the Barcelona Golf Club based in Sant Esteve Sesrovires, which will provide all the necessary materials: clubs, putters, balls, etc. Once there, they will have a 90-minute session – with regular breaks to avoid fatigue – for 12 weeks led by coach Carlos Vivas. At the end of each session, the same bus will make the return trip to Sant Pau.

Regarding the study methodology, before and after each weekly session, researchers from the Sant Pau Research Institute will use a mood questionnaire to detect short-term emotional changes in these patients. Specifically, and for this purpose, they will use the Scale for Mood Assessment (EVEA) as a self-assessment of emotional state and feelings.

At the end of the 12-week study period, a final evaluation will be carried out, and the analysis and publication of the results are scheduled for June-July 2024.

Sant Pau, a reference in care and research in Parkinson’s disease

Sant Pau Hospital focuses a significant part of its care and research activity on movement disorders, where the Neurology Service Unit is CSUR (Centers, Services, and Units of Reference) and has extensive experience dedicated to all types of rare neurological diseases of great complexity characterized by the development of abnormal movements – such as Huntington’s disease, atypical parkinsonisms, early-onset Parkinson’s disease, ataxias, or Tourette syndrome, among others.

In Parkinson’s care, it provides cognitive stimulation in the Clinical School of Neuropsychology and Language Pathology, and among other initiatives, it has a patient choir composed of more than 30 people. Additionally, it is a reference center in deep brain stimulation for Parkinson’s disease, a technique it has been applying for 25 years and where it was a pioneer.

In research, it carries out various projects: the Sant Pau Research Institute was a pioneer in describing and designing specific tools to assess cognitive impairment in Parkinson’s, such as the Parkinson’s Disease Cognitive Rating Scale (PD-CRS) used in all studies focused on this area, and promotes studies independently or in collaboration.

One of the most recent, published this year, has evaluated the medical and emotional benefits of theater in twenty patients diagnosed with Parkinson’s, an initiative that included workshops on body awareness, movement, and improvisation conducted in collaboration with the Open University of Catalonia and the Teatre Lliure of Barcelona. The results showed an improvement in mood and anxiety and depression disorders and in immediate memory – with better concentration capacity.

With the collaboration of:

Dr. Eduard Gallardo, a researcher from the Neuromuscular Diseases group at the Sant Pau Research Institute, hosted the “F2F meeting OptiMyG,” a gathering that brought together various professionals to kick off the Characterization and optimization of myasthenia gravis care (OptiMyG) project. The project, coded EJPD AC23_2/00030, was granted to the consortium in the 2023 call for the European Joint Programme on rare diseases. Myasthenia gravis is a rare chronic autoimmune disease that causes weakness and fatigue in voluntary muscles, including those used for eye and eyelid movement. The event took place at the Sant Pau Research Institute on March 14 and 15 with the participation of experts from Sweden, Poland, Switzerland, Italy, Spain, and Finland.

Dr. Gallardo explains that “the project is an initiative of the EJPD Consortium for rare diseases, which includes several countries. The purpose is to contribute to improving the way this disease is treated, establishing protocols for data and sample collection. It is important to share data because it is a rare disease, and with larger samples, it is easier to reach conclusions.”

Currently, there is no consensus or clinical guideline that collects detailed clinical, epidemiological, treatment, and immunological parameter data from various countries for the diagnosis and treatment of myasthenia gravis. “One of the objectives of OptiMyG is to contribute to harmonizing and standardizing criteria to improve the way this rare disease is treated because it has been observed that different countries approach patients somewhat differently.”

During the event, administrative issues such as consortium agreement, ethics, and data management were addressed. Discussions also revolved around the collection of clinical data, both retrospective and prospective, related to myasthenia gravis. Additionally, plans for experimental studies, establishment of timelines, as well as consideration of ethical issues and management and exchange of samples (serum, cells, etc.) were discussed.

Dr. Anna Aulinas, coordinator of the Pituitary Diseases Unit at the Hospital de Sant Pau, researcher in the Pituitary Diseases group at the Sant Pau Research Institute, and member of Unit 747 of CIBERER (Rare Diseases Research Network in Spain), has recently been distinguished on the European stage with the 2024 Rising Star Award from the European Journal of Endocrinology (EJE).

This award is granted to individuals selected by the editors of this prestigious journal for demonstrating promising potential, achievement, and trajectory in establishing themselves as clinical and translational researchers in the field of endocrinology, with high potential to serve as future editors of the EJE. The award consists of membership in the EJE Rising Star Evaluation Council for two years, a dedicated mentoring program for future editors of the journal.

Dr. Aulinas specialized in endocrinology at the Hospital de Sant Pau and later completed a two-year postdoctoral stay in the Neuroendocrinology Unit at Massachusetts General Hospital (Harvard Medical School) in Boston (United States), obtaining a Juan Rodés contract. Currently, she works as a researcher at the Sant Pau Research Institute, in the Pituitary Diseases research group – led by Dr. Susan Webb –, and coordinates the Pituitary Diseases Unit at the Hospital de Sant Pau, a National Reference Center accredited in Pituitary Diseases and a center recognized by the European Reference Network for Rare Endocrine Diseases (EndoERN).

Dr. Aulinas has been awarded several young investigator prizes from national and international scientific societies for her research and contributions in the field of neuroendocrinology. Her work and dedication are an example of the excellence that defines the staff of the Sant Pau research institute, reinforcing its reputation as a reference center in the treatment of endocrine diseases.

An international study conducted by researchers from the dementia neurobiology group at the Sant Pau Research Institute and the Memory Unit of the same hospital suggests that primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) are disorders that could be part of a clinical continuum rather than being completely distinct entities. The research, which focused on patients with progressive speech impairment and/or agrammatism, sought to identify distinct sets of symptoms that do not naturally overlap, such as PPAOS and PAA.

Dr. Ignacio Illan Gala, a researcher at the Biomedical Research Networking Center for Neurodegenerative Diseases (CIBERNED) at IR Sant Pau and lead author of the study, explains that “there are various solutions for these patients. We can, for example, provide speech therapy and interventions to try to improve patients’ speech and articulation, which may temporarily alleviate symptoms, although it will not alter the progression of these diseases.”

The study, published in the prestigious journal Brain, was conducted by specialists in speech pathology and included 98 participants, 43 of whom had a neuropathological diagnosis confirmed by autopsy. Researchers evaluated characteristics indicative of dysarthria and apraxia of speech. In addition, quantitative measures of expressive/receptive agrammatism were taken and compared with healthy controls. The severity of the disease at onset and progression was assessed using the sum of scores from the Clinical Dementia Rating (CDR-SB). Dr. Illan explains that “the diagnosis of this syndrome is general and interpretative; what is needed are objective markers that are not clinical to reach a definitive diagnosis.”

The results revealed that 93 out of 98 participants matched previously documented clinical profiles, with 75 of them diagnosed with apraxia of speech (AOS) and agrammatism, 12 with PPAOS, and 6 with PAA. However, five participants showed a different pattern, with no clear evidence of apraxia of speech or agrammatism, characterized by non-fluent speech, executive dysfunction, and dysarthria. “We are working to understand these diseases in order to identify the specific pathology causing the symptoms in each patient. Once identified, we will then propose treatments specifically targeted at that pathology,” says Dr. Illan.

Statistical analysis revealed a low tendency toward clustering in the dataset, indicating a lack of clear separation between subgroups. Only two solid subgroups were identified, differentiated by the presence of agrammatism, executive dysfunction, and overall disease severity. Furthermore, three latent clinical dimensions were identified based on the following data: severity-agrammatism, prominent presence of Apraxia of Speech (AOS), and prominent presence of dysarthria. These dimensions explained 71% of the variability observed in the patients’ symptoms.

Although none of these dimensions enabled precise prediction of neuropathology, it was observed that the intensity of agrammatism acted as an independent predictor of faster increase in CDR-SB score in all participants. Additionally, the severity of dysarthria, reduction in words per minute, and intensity of expressive/receptive agrammatism at onset also independently predicted accelerated disease progression.

In conclusion, this study suggests that PPAOS and PAA, rather than being completely distinct entities, constitute a clinical continuum. The findings highlight the need for new biological markers and consensus on updated terminology and clinical classification within the spectrum of non-fluent/agrammatic primary progressive aphasia.

With the collaboration of the Spanish Foundation for Science and Technology – Ministry of Science, Innovation and Universities.

Reference Article

Illán-Gala I, Lorca-Puls DL, Tee BL, Ezzes Z, de Leon J, Miller ZA, Rubio-Guerra S, Santos-Santos M, Gómez-Andrés D, Grinberg LT, Spina S, Kramer JH, Wauters LD, Henry ML, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Mandelli ML, Gorno-Tempini ML. Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum. Brain. 2023 Nov 21:awad396. doi: 10.1093/brain/awad396. Epub ahead of print. PMID: 37988272. DOI: 10.1093/brain/awad396

The Sant Pau Research Institute announces the creation of the new research group in Advanced Medical Imaging, Artificial Intelligence, and Image-Guided Therapy. Dr. Josep Munuera, a researcher with a broad trajectory in the use of artificial intelligence applied to medicine and director of the Radiodiagnosis Service at Hospital Sant Pau, will lead this cross-sectional and multidisciplinary project that seeks to go beyond traditional specializations.

The approach of this new group goes beyond traditional currents by integrating experts from various medical and technological disciplines, both from the research institute and the hospital. This project is structured in two main areas: the first one focuses on quantitative vascular imaging, exploring more effective methods for extracting and analyzing data. The second one is based on the use of generative artificial intelligence in radiology and medical imaging, opening up new possibilities in data analysis and transformation.

“Medical imaging is crucial in the research of virtually all medical specialties. The application of artificial intelligence will maximize the potential of data obtained through imaging tests, contributing significantly to advancing research and, therefore, improving clinical practice,” says Dr. Munuera.

The strength of this group lies precisely in its cross-sectional, heterogeneous, and multidisciplinary nature. “We invite researchers from different areas of the institute to join and create a unique collaboration environment. Although radiology and medical imaging are fundamental, we want to break down knowledge silos and foster collaboration among professionals from all specialties such as computer vision, physics, or bioengineering, as well as various medical branches, allowing for comprehensive and enriching collaboration. Medical imaging is a unique universe of data, and we want our experts to explore all its potential,” emphasizes this researcher.

In addition, the new group will not be limited to internal research but will also offer consultancy to other research groups both inside and outside the institute. “The vision is broad, ranging from the role of imaging in specific diseases to the application of artificial intelligence in surgical planning and 3D image design, diagnosis, and treatment of multiple diseases.”

Dr. Munuera explains that medical imaging is a transversal tool in the research of virtually all medical specialties, and now, the application of artificial intelligence will serve to harness the potential of the data obtained through imaging tests and achieve their maximum performance. “It is true that this group covers many areas, but it also brings the value of integrating them all for the benefit of research.”

A distinguished trajectory

Dr. Josep Munuera is a reference in research on artificial intelligence applied to medicine. This radiologist specialized in neuroradiology at the Hospital del Mar in 2005. He worked as an associate in neuroradiology at the Vall d’Hebron and Sant Pau Hospitals between 2005 and 2012. Subsequently, he was head of the Magnetic Resonance Unit at the Germans Trias i Pujol Hospital from 2012 to 2016; Health Director at the Institute of Diagnostic Imaging (CatSalut) from 2016 to 2017, and later, head of the Radiology Department at the Hospital Sant Joan de Déu, from 2017 to 2023. Since April 2023, he has been the Director of the Radiology Service at the Hospital de Sant Pau.

His academic and professional work has focused on the study of neuroradiology, especially in cerebrovascular diseases in adults and the innovative development of imaging biomarkers. He is the author of 85 scientific articles and 11 book chapters. He has led several national and international projects, such as the Expert3D program (EIT Health Campus for 3 consecutive years), CARONTE for cardiovascular risk assessment tools in pediatric oncology patients (Next Generation), and Vasculomics, a clinical decision support system for evaluating pediatric cerebral vascular diseases, highlighting his commitment to integrating AI and machine learning technologies in radiology to improve the accuracy and effectiveness of medical diagnoses and treatments. He currently directs the postgraduate course “Expert3D: AI and 3D in health” at the Polytechnic University of Barcelona.

With the impetus of this new research group, Sant Pau consolidates itself as a reference in the integration of artificial intelligence and medical imaging and reaffirms its commitment not only to advance research in this field but also to improve the clinical application of medical imaging.