Thrilled to share the results of our latest study entitled "#Neurosteroid Levels in #GBA Mutated and Non-Mutated #Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?" just published in Biomolecules MDPI. This pilot study provides the first observation of changes in #neurosteroid peripheral levels in #GBAPD representing a great collaboration between AUSL Reggio Emilia #IRCCS_RE and Università degli Studi di Modena e Reggio Emilia. Some key points: - we assessed neurosteroids’ serum levels in a cohort of GBA-PD compared with matched cohorts of consecutive non-mutated PD patients and healthy subjects with (GBA-HC) and without (NM-HC) GBA mutations. - 22 GBA-PD, 22 NM-PD, 14 GBA-HC and 15 HC were included. - most of the serum neurosteroids were reduced in both GBA-PD and NM-PD compared to the respective control cohorts, except for 5α-dihydroprogesterone. - Allopregnanolone was the only neurosteroid significantly lower in NM-PD compared to GBA-PD patients. - interestingly in GBA-PD, allopregnanolone, and pregnanolone levels correlated with a more severe MDS-UPDRS part-III, while Allopregnanolone levels also negatively correlated with MoCA scores, and pregnanolone levels correlated with more pronounced bradykinesia. Many thanks to all the co-authors in particular Giuseppe Biagini, Chiara Lucchi, franco valzania, Alessio di Fonzo, Edoardo Monfrini, Sara Grisanti, Valentina Fioravanti, Giulia Di Rauso and Jessica Rossi.
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🔥Hot off the press on European Heart Journal - Quality of Care & Clinical Outcomes 🫀Diagnosis and management of dilated cardiomyopathy: a systematic review of clinical practice guidelines and recommendations 🧑🏽💻To support clinicians in daily practice and decision-making, we conducted a systematic review of key guidelines and recommendations concerning the diagnosis and clinical management of DCM ✅We identified broad consensus on key aspects of #DCM management, including its definition, the role of biomarkers like B-type natriuretic peptides and high-sensitivity troponin, multimodality imaging for diagnosis, genetic counselling, and advanced disease management ❌However, significant variations exist in areas such as multidisciplinary team formation, cascade genetic testing, arrhythmic risk stratification, and criteria for prophylactic defibrillator implantation ❔Evidence gaps remain regarding the clinical course of genetic and non-genetic DCM, the use of CMR in genotype-positive, phenotype-negative family members, and the development of targeted therapies 🔗 https://lnkd.in/dCa8zin5 🔓open access #DCM #cardiomyopathies #myocare #risk #stratification #gaps #guidelines #recommendations #cascade #screening #surveillance #imaging #ICD #risk #factors #multisciplinary #teaming #cardiogenetics #CMR #CT #echo Università degli Studi "Gabriele d'Annunzio" Azienda sanitaria locale Lanciano Vasto Chieti Queen Mary University of London
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🔬 𝐄𝐱𝐜𝐢𝐭𝐢𝐧𝐠 𝐫𝐞𝐬𝐮𝐥𝐭𝐬 𝐢𝐧 𝐭𝐡𝐞 𝐟𝐢𝐞𝐥𝐝 𝐨𝐟 𝐦𝐮𝐥𝐭𝐢𝐩𝐥𝐞 𝐬𝐜𝐥𝐞𝐫𝐨𝐬𝐢𝐬! 🧠 🌟Excited to share the most recent discoveries regarding the detection of biomarkers specific to diseases in multiple sclerosis (MS) that have the potential to transform patient treatment. In a recently published research article by Tanuja Chitnis and colleagues in Nature Communication, the team examined more than 1,400 serum proteins from three MS groups, uncovering 20 crucial proteins linked to disease activity. These biomarkers demonstrate encouraging connections with clinical and radiographic indicators of MS advancement.🌟 💡Multivariate models outperformed univariate approaches, with neurofilament light chain emerging as a strong predictor of disease activity. The study's innovative approach sheds light on the complex pathophysiology of MS, offering insights into inflammatory, immune, and neurodegenerative processes.💡 💉This research paves the way for a potential MS disease activity test that could transform how we predict relapses, assess treatment efficacy, and personalize patient care. Exciting times ahead for MS research and personalized medicine! 💉 #MultipleSclerosis #Biomarkers #PrecisionMedicine #PersonalizedMedicine 🧪🔍
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📃Scientific paper: Application of the American Thyroid Association Risk Assessment in Patients with Differentiated Thyroid Carcinoma in a German Population Abstract: Background: The American Thyroid Association (ATA) uses criteria to assess the risk for persistent disease in differentiated thyroid carcinoma (DTC) after radioiodine therapy (RAI). There are no data available showing that this classification can be adopted unadjusted by Germany. Aim: The aim of our study is to investigate whether the ATA classification can be applied to a German population for short-term prognosis. Furthermore, we investigated the influence of an age cutoff value. Methods: We retrospectively analyzed 121 patients who were referred to our tertiary referral center. Patients were classified into risk categories, and the therapy response was determined according to ATA. Results: A total of 73/83 (88%) ATA low-risk patients and 12/19 (63%) intermediate-risk patients showed an excellent response; 2/19 (11%) high-risk patients had a biochemical, and 6 (31%) had a structural incomplete response. Of all 39 patients ≥55 years, 84% had an excellent response. Using a cut off of 50 years, 50/62 (81%) of the older patients showed an excellent response. Conclusion: The ATA risk classification is able to estimate the response to RAI therapy in a German population. A shift from 55 to 50 years as an age cutoff value does not result in any relevant change in the treatment response. Continued on ES/IODE ➡️ https://etcse.fr/PACXx ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.
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A couple years back I encountered a patient with a chronic wound that defied the usual treatment protocols. Despite following evidence-based practices, healing seemed painfully slow, leaving me frustrated and the patient disheartened. At the time, I couldn’t help but wonder—was there something unique about this patient’s biology that we were missing? More recently, I came across a fascinating study that provided a possible answer: genetic markers may play a significant role in wound healing. The research delves into how variations in genes involved in inflammation, collagen production, and angiogenesis influence recovery rates and outcomes. This insight is transformative. Imagine a future where treatment planning isn’t based on generalized protocols but tailored to the individual’s genetic profile. For patients with genetic predispositions to delayed healing, interventions could be proactively adjusted—whether it’s more aggressive treatments, specific growth factors, or advanced dressings. It’s a humbling reminder of how much we still have to learn and an exciting glimpse into what personalized wound care could look like. The challenge now is translating this knowledge into actionable, accessible solutions for clinicians and patients alike. https://lnkd.in/epw-2FRh
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The article discusses a new framework developed by the German healthcare system to diagnose patients with ultra-rare disorders using a combination of next-generation sequencing (NGS) and advanced phenotyping techniques. The key points are: - The German healthcare system conducted a study called TRANSLATE NAMSE from 2018-2020 to create a structured method for incorporating exome sequencing into the analysis of clinical phenotypes to diagnose ultra-rare disorders and find new monogenic disorders. - The study found that a systematic, consortium-based collection of molecular and clinical data, including computer-assisted analysis of facial images, helped prioritize variants more efficiently compared to approaches based solely on clinical features and molecular scores. - This national framework is necessary to give undiagnosed patients a chance to participate in research and create a place where data can be shared, which is the first step towards achieving personalized medicine. #clinicalgenetics #healthcare #humangenetics #medicalgenetics #medicine #orphandiseases #precisionmedicine #rarediseases
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📃Scientific paper: Application of the American Thyroid Association Risk Assessment in Patients with Differentiated Thyroid Carcinoma in a German Population Abstract: Background: The American Thyroid Association (ATA) uses criteria to assess the risk for persistent disease in differentiated thyroid carcinoma (DTC) after radioiodine therapy (RAI). There are no data available showing that this classification can be adopted unadjusted by Germany. Aim: The aim of our study is to investigate whether the ATA classification can be applied to a German population for short-term prognosis. Furthermore, we investigated the influence of an age cutoff value. Methods: We retrospectively analyzed 121 patients who were referred to our tertiary referral center. Patients were classified into risk categories, and the therapy response was determined according to ATA. Results: A total of 73/83 (88%) ATA low-risk patients and 12/19 (63%) intermediate-risk patients showed an excellent response; 2/19 (11%) high-risk patients had a biochemical, and 6 (31%) had a structural incomplete response. Of all 39 patients ≥55 years, 84% had an excellent response. Using a cut off of 50 years, 50/62 (81%) of the older patients showed an excellent response. Conclusion: The ATA risk classification is able to estimate the response to RAI therapy in a German population. A shift from 55 to 50 years as an age cutoff value does not result in any relevant change in the treatment response. Continued on ES/IODE ➡️ https://etcse.fr/PACXx ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.
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Day 14:🔆🔆CYSTIC FIBROSIS🔆🔆 What is Cystic Fibrosis? CF is a chronic, progressive disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other organs. This leads to recurring lung infections, digestive problems, and other complications. The Impact on Patients and Families Living with CF requires a tremendous amount of time, effort, and resources. Patients must adhere to a rigorous treatment regimen, including: • Multiple medications and therapies • Frequent hospitalizations • Strict dietary restrictions • Time-consuming respiratory treatments The emotional and financial burden on patients and families can be overwhelming. Advances in Treatment and Research Despite the challenges, there is hope. Advances in medical research and treatment options have improved the quality of life and life expectancy for people with CF. • New medications and therapies are being developed to target the underlying causes of CF. • Gene therapy and gene editing technologies hold promise for future treatments. • Advances in lung transplantation and other surgical interventions have improved outcomes for patients with advanced CF. Let's Raise Awareness and Support! #CysticFibrosis #CFAwareness #Healthcare #Research #Advocacy #Support #RareDiseases #HealthcareProfessionals #thepowerofyourwordscanchangetheworld #21daysofimpactwithGloriaAdesina #thoughtleadership #impartleader
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The Future of Tuberous Sclerosis Care: Precision Medicine through Genetic Testing Tuberous Sclerosis Complex (TSC) is a rare disease that affects approximately 1 in 6,000 to 10,000 newborns. While Taiwan's healthcare system has reported over 700 patients, the actual number might exceed 2,000. Many individuals with TSC may not receive adequate treatment, facing symptoms such as seizures, intellectual disability, and various tumors. 🔬 Precision Medicine: A Beacon of Hope With advancements in genetic testing, we can now better understand the underlying causes of TSC, primarily linked to mutations in the TSC1 or TSC2 genes. Precision medicine offers tailored treatments based on individual genetic profiles, providing more effective care and improving the quality of life for TSC patients. 💡 Healthy Growth and Better Outcomes By leveraging genetic testing and precision treatments, we aim to ensure that TSC patients receive the best possible care, allowing them to grow healthily and lead fulfilling lives. Let's work together to raise awareness and support the development of innovative therapies for those affected by TSC. #TuberousSclerosis #PrecisionMedicine #GeneticTesting #HealthcareInnovation #PatientCare #RareDiseaseAwareness
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