Mariano Molina Ortega

📢 New Guidelines for WES procedures in prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics (SEGO) and Spanish Association of Prenatal Diagnosis (AEDP). 1. Trio WES 👨‍👩‍👧 is recommended as a 1️⃣ first-tier genetic test with specific structural abnormalities such:   - 💧 Bilateral hyperechogenic, dysplastic, or polycystic kidneys   - 🦴 Skeletal dysplasia   - ♻️ Recurrent anomaly   - 🧠 Craniosynostosis   - 🚼 Fetal akinesia deformation sequence   - 🔄 Multiple anomalies involving various systems   - 🧠 Central nervous system anomalies (except single anomalies)   - 🌊 Non-isolated nuchal translucency   - 💧 Non-immune hydrops fetalis 2. Previous genetic tests (such as QF-PCR and CMA) have not identified genetic alterations 🧬. 3. Strong suspicion of recurrence based on family history, such as previous fetuses or children with structural anomalies where no prior genetic studies were available 🧑‍🤝‍🧑. Each center should decide which of the four reporting levels to adopt: 1. Level 1️⃣: Primary findings 2. Level 2️⃣: Level 1 + Incidental findings (genes with high penetrance that are associated with moderate or severe childhood-onset diseases 🧒 3. Level 3️⃣: Levels 1 and 2 + Carrier Status for recessive conditions in both parents 👨‍👩‍👧‍👦. 4. Level 4️⃣: Levels 1, 2, and 3 + Secondary findings (early and late onset medically actionable ACMG gene list 🏥 Other important considerations in the guidelines covered: 1. 🛠️ Technical considerations 2. 📊 Quality assessment 3. 🩺 Clinical considerations 4. 🔄 Reanalysis 5. 💬 Pre-test and post-test genetic counselling 6. 🗄️ Data storage and data protection policies 📄 Excellent document enhancing the prenatal diagnostic landscape in Spain. https://lnkd.in/dyUjJDUp #WES #prenataldiagnostics #NGS #ultrasoundanomalies #prenatalcare #exome #SEGO Asociación Española de Diagnóstico Prenatal Fundación iMaterna #genomicmedicine

53

1 comentario

#TargetingMitochondria2024 Accepted Poster Communications - Part 2. You still have time to submit your posters! SORL1 DEFICIENCY IN ALZHEIMER´S PATIENTS: IMPACT ON MITOCHONDRIA AND AUTOPHAGY Guiomar Rodríguez Periñán, Research Institute Hospital 12 de Octubre, Spain AMADORI PRODUCT, FRUCTOSELYSINE, ALTERS MITOCHONDRIAL FUNCTION AND IMPAIRS ENERGY METABOLISM IN HUMAN BETA CELL LINE 1.1B4 SHIFTING TO GLYCOLYSIS Gökhan Duruksu, Kocaeli University, Turkey M.10010T>C MITOCHONDRIAL DISEASE: A CASE REPORT WITH HYPOCALCEMIA Jacob Mohr, Mech-Sense, Aalborg University Hospital, Denmark MUTANT P53 INDUCES MITOCHONDRIAL FRAGMENTATION IN PANCREATIC DUCTAL ADENOCARCINOMA (PDAC) Maria Poles, University of Verona, Italy IMPACT OF CHROMOSOME 18 NUMERICAL IMBALANCES ON MITOCHONDRIAL BCL-2 PROTEIN EXPRESSION IN HPV-POSITIVE CERVICAL SQUAMOUS INTRAEPITHELIAL LESIONS Nikolaos Kavantzas, National and Kapodistrian University of Athens, School of Medicine,  Greece 3D CELL CULTURE MODELS TO STUDY MITOCHONDRIAL FUNCTION IN AIRWAY DISEASES Arda Tarcan, University of Southampton, United Kingdom MITOCHONDRIAL FUNCTION AND OTHER IMPORTANT PARAMETERS OF AGEING ARE IMPROVED BY CALORIC RESTRICTION IN HUMANS Melanie Scherer, Albstadt-Sigmaringen University, Germany THE PROTEIN GLYCOSYLATION MACHINERY IN B CELLS CONTROLS MITOCHONDRIAL FUNCTION Christina Brunner, Universitätsklinikum Erlangen, Germany OXIDATIVE DRUG COMBINATION OF ARSENIC TRIOXIDE AND D-VITAMIN C INDUCES DYSFUNCTION OF MITOCHONDRIA AND CYTOTOXIC ROS PRODUCTION Agata Natasza Burska, Nazarbayev University, Kazakhstan CARDIOVASCULAR AUTONOMIC NEUROPATHY IN M.3243A>G MITOCHONDRIAL DISEASE Simone Rask Nielsen, Mech-Sense, Aalborg University Hospital, Denmark GENETIC CHANGES IN MITOCHONDRIA: A POTENTIAL MARKER OF TESTICULAR TUMOR CHEMORESISTANCE? Ing. Pavlína Kabelíková,  Biomedical Research Center of the Slovak Academy of Sciences, Slovak Republic THE STUDY OF THE IMPACT OF HYPOXIA AND EPIGENETIC MODULATION ON MECHANISMS INVOLVED IN RESISTANCE OF TESTICULAR TUMORS MSc. Danica Ivovič, PhD.,  Slovenská akadémia vied / Slovak Academy of Sciences, Biomedical Research Center, Slovak Republic METABOLIC REPROGRAMMING IN CHEMICALLY INDUCED CARDIOMYOCYTES THROUGH MITOCHONDRIAL TRANSFER EunJung Park, Sungkyunkwan University, South Korea NOVEL INTRACELLULAR FLUORIMETRIC PROBES FOR ORGANELLES WITH PHOTOINDUCED BIOACTIVITY Ivo Piantanida, Rudjer Boskovic School, Croatia 🔗 Poster Submission: https://lnkd.in/ePFTf-PA #WorldMitochondriaSociety #TargetingMitochondria #mitochondria #WMS

34

🔍 Discover the cost-effectiveness of pharmacogenetic screening in treating Major Depressive Disorder (MDD). This approach could save costs and improve patient outcomes in the Spanish National Health System. Read more to understand the potential benefits and future implications. 🌐💡 #SyenzaNews #Pharmacogenetics #MajorDepression #CostEffectiveness #HealthcareInnovation https://lnkd.in/dgcPfFJc

5

2 comentarios

🌟 Reminder: Dr. Josep Tabernero MD, PhD Tabernero's Insights at ESMO 2024 🌟 As we reflect on the highlights from #ESMO2024, this is a reminder of the impactful presentations and discussions led by Dr. Josep Tabernero MD, PhD , a prominent figure in oncology research. Dr. Tabernero played a key role at the conference, including: Chairing an Industry Satellite Symposium on precision oncology for BRAF-mutant cancers, held on September 16, 2024. The session explored the latest strategies for managing BRAFV600 mutations in solid tumors, including melanoma, colorectal cancer, and non-small cell lung cancer, with an expert panel sharing insights on targeting these mutations for optimal patient outcomes. Presenting data from the BREAKWATER study, which evaluated the combination of encorafenib and cetuximab with chemotherapy in BRAF V600E-mutant metastatic colorectal cancer. The study showcased promising improvements in efficacy and safety, advancing the potential treatment options for this challenging cancer type. Dr. Josep Tabernero MD, PhD’s contributions at ESMO continue to drive progress in targeted cancer therapies and precision medicine, providing hope for patients with hard-to-treat cancers. For more details, check out the full presentation and updates: https://lnkd.in/e2xXwUiq Stay tuned for more updates and reflections on #ESMO2024. #Oncology #CancerResearch #PrecisionOncology #TargetedTherapies #ColorectalCancer #BRAFMutations #JosepTabernero #BREAKWATERStudy

123

1 comentario

Ascentage Pharma announced that updated results from three studies of olverembatinib, have been released in posters at the 2024 European Hematology Association Hybrid Congress, taking place in Madrid, Spain. Olverembatinib (HQP1351) is an oral, third-generation BCR-ABL1 tyrosine kinase inhibitor (TKI) developed by Ascentage Pharma for the treatment of chronic myeloid leukaemia (CML), acute myeloid leukaemia, acute lymphoblastic leukaemia (ALL) and solid tumours, including gastrointestinal stromal tumours (GIST). Olverembatinib is an ATP binding-site inhibitor of wild type BCR-ABL1 kinase and a broad spectrum of BCR-ABL1 mutants, including mutant T315I, which confers resistance against all first- and second-generation TKIs.  Chemenu has been working to develop more compounds for drug discovery. Here comes the building blocks we can provide: https://lnkd.in/gaVnBaRP #Olverembatinib #HQP1351 #GZD824 #TKI #CML #buildingblocks

1

🌍Spain joins the IMAGINE Project to combat antimicrobial resistance (#AMR) and enhance infection control in nursing homes. The intervention programs in Lleida and Barcelona will bring together HCPs to participate in structured and interactive workshops These workshops will equip healthcare professionals with essential skills to improve infection prevention and control (IPC) practices, focusing on common infections like urinary tract infections (UTIs). Participants will analyze audit findings and set actionable goals based on expert recommendations. Attendees will engage in expert-led training on diagnosing and managing UTIs, while also gaining access to educational resources that can be shared with residents' families. This initiative aims to foster a broader understanding of infection prevention within the nursing home community. Nursing homes play a crucial role in the fight against AMR, as they house some of the most vulnerable individuals. By implementing best practices in infection management, the IMAGINE Project seeks to create lasting improvements that benefit both residents and the healthcare system. https://lnkd.in/dCr4mQbY

12

Cardiovascular problems affect individuals of all genders, and it’s crucial to understand the risk factors involved. Smoking, high cholesterol, hypertension, and being overweight significantly increase the likelihood of developing heart disease.​ ​ At ESTEVE, prevention is key, especially in alignment with our purpose of improving people’s lives. That’s why we encourage you to trust healthcare professionals and steer clear of common myths.​ ​  👉 In a recent video, Dr. Enrique Santas, a cardiology specialist at the Hospital Clínico Universitario de Valencia, shares verified insights on this critical topic.​ Watch the video to learn more and empower yourself with knowledge for better heart health!​ ❤️ https://lnkd.in/eaQ36fFG

24

1 comentario

The countdown is on for the World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition (WCPGHAN) in Buenos Aires, 4-7th December 2024 📍 Join us in Room C1 at the Congress on 6th December at 8:15 AM for our exclusive symposium - "New Insights on Infant Colic: From Pathophysiology to Comparative Probiotic Studies", hosted by Pediatric Gastroenterologist and President of LASPGHAN, Dr. Rodrigo Vazquez Frias and Director of Innovation at AB-BIOTICS, Jordi Espadaler Mazo, PhD. Discover the role of probiotic strains in infant colic pathophysiology, as well as the results of our latest clinical study which compared our probiotic blend - AB-KOLICARE® - with the most commonly used infant colic probiotic, L. reuteri DSM17938. Discover which probiotic provides the fastest and most effective relief for colicky infants at the Congress! Not attending? Read our blog to find out more about the study: https://lnkd.in/dKas9JfC #InfantHealth #WCPGHAN2024 #Pediatrics #GutHealth

28

#IBResearch | Dr. Maria Martínez Moya, gynaecologist specialising in reproductive medicine at Instituto Bernabeu, has led, together with Dr. Juan Castillo M.D., scientific director at Instituto Bernabeu, a research study that will be published in the JBRA Assited Reproduction journal. 🔬This study, entitled: ‘Exploring uterine contractility frequency in infertile population: a comparative study among different control groups with and without a C - Section defect’ addresses the impact of uterine contractility on implantation rates in women who have given birth by caesarean section. The study found no significant differences in the pattern of contractility, ‘suggesting that uterine contractility is not a contributing factor in reduced implantation rates in women with caesarean section’, in the words of Dr. Maria Martinez. 🗣️‘Knowing more about why success rates decrease after caesarean section allows us to personalise treatment and improve the chances of success for our patients’. 🔗You can find the main conclusions, methodology and summary of the publication in the first comment of this post.

31

3 comentarios

A 3ª edição de 2024 da Revista Case Reports já está disponível para consulta. 𝗘𝗗𝗜𝗧𝗢𝗥𝗜𝗔𝗟 🔹 The Essential Role of Global Communication in Clinical Practice. 𝗖𝗔𝗦𝗢𝗦 𝗖𝗟𝗜́𝗡𝗜𝗖𝗢𝗦 🔹 Generalized Pustular Psoriasis: A Case Report 🔹 Acute Pancreatitis Associated with Hypercalcemia as the Initial Presentation of Primary Hyperparathyroidism 🔹 Gastric Cancer with Disseminated Bone Marrow Carcinomatosis Initially Presenting with Paraneoplastic Abducens Nerve Palsy 🔹 From Postpartum Hemorrhage to Acquired Hypopituitarism: Clinical Case 🔹 Citrobacter braakii, an Unusual Organism: Case Report and Literature Review 🔹 Removing “Another Brick in the Wall”: Pulmonary Rehabilitation of a Patient with Very Severe COPD during Hospitalization 🔹 Fungal Endocarditis: A Successful Case with Medical Therapy Alone 𝗜𝗠𝗔𝗚𝗘𝗡𝗦 𝗘𝗠 𝗠𝗘𝗗𝗜𝗖𝗜𝗡𝗔 🔹 Between the Miracle of Life and the Complexity of the Disease: Amniotic Fluid Embolism 🔹 A Rare Triad: Plummer Vinson Syndrome 🔹 Calciphylaxis: A Rare Cause for Lower Extremities Ulceration 🔹 Exuberant Cervical Tumefaction: A Rare Case of A Giant Cervical Schwannoma Leia aqui todos os artigos – Vol. 2 N.º 3 (2024): Julho/Setembro | Case Reports ( https://lnkd.in/dr6u4Y3K ) #RevistaCaseReports #SPMI #MedicinaInterna

3

Activated PI3Kδ syndrome (#APDS) is a rare immune disorder with significant unmet needs, including misdiagnosis and delayed diagnosis. In Spain, a multidisciplinary committee evaluated APDS treatment using multicriteria decision analysis (#MCDA). Current treatments are mainly off-label and provide limited disease control, with haematopoietic stem cell transplantation being the only potential curative option but with restricted use. The study highlights APDS's high economic burden and suggests MCDA as a valuable tool for enhancing clinical and decision-making processes.| https://ow.ly/rOes50SgXrI

5

September 15th is World #Lymphoma Awareness Day! 🩸📣 Anna Sureda, MD, PhD, Catalan Institute of Oncology, Duran I Reynals Hospital, provides an insight into the future of #CARTCell therapy for #Lymphoma, including #DLBCL, #MantleCellLymphoma, & #FollicularLymphoma 🔦 Although CAR-T is most well-established in #DLBCL, there is ongoing investigation to move #CART into earlier lines of therapy in all of these #hematologicalmalignancies, especially in high-risk patients. #Translational and #clinical research is playing a role in increasing the efficacy of CAR-T products while decreasing manufacturing time and associated #toxicities Prof. Sureda also highlights that the development of #allogeneic #CARTcells will likely overcome some of the challenges associated with #autologous CAR-T 💡 Learn more 👉 https://lnkd.in/ePBvx42g #LymSM #VJHemOnc #WLAD2024 #WorldLymphomaAwarenessDay #BloodCancerAwarenessMonth

8

Explore #Navitian's crossing capacity in the #ClinicalCase by Dr Ignacio J Amat Santos and find out why is key to success in an antegrade approach ➡️ https://lnkd.in/dCcfMPP3 #iVascular #ClinicalCases

47

👩‍🏫 #GenoMed4All Training Highlights | Session 1: ‘GenoMed4All & ERN-EuroBloodNet for Precision Medicine in Hematology’ with Victoria Gutiérrez Valle, Scientific Manager for ERN-EuroBloodNet & Vall d’Hebron Institute of Research (VHIR) - Vall d'Hebron Institut de Recerca 📹 https://lnkd.in/ezaa6zD7 Now that we’ve officially launched our 2nd educational program on ‘AI in Hematology’, we’re looking back at what we learned in last year’s training. Here are 3 takeaways from the first session, delivered in collaboration with ERN-EuroBloodNet (European Reference Network on Rare Hematological Diseases) 👇 🔹 𝐓𝐡𝐞 𝐦𝐢𝐬𝐬𝐢𝐨𝐧 𝐛𝐞𝐡𝐢𝐧𝐝 𝐭𝐡𝐞 𝐄𝐑𝐍𝐬: the European Commission set up 24 European Reference Networks (ERNs) in 2017 to connect the dispersed knowledge existing in the EU to treat and diagnose #RareDiseases, and empower healthcare providers to foster improved diagnosis and treatment. 🔹 𝐅𝐨𝐜𝐮𝐬 𝐨𝐧 𝐑𝐚𝐫𝐞 𝐇𝐞𝐦𝐚𝐭𝐨𝐥𝐨𝐠𝐢𝐜𝐚𝐥 𝐃𝐢𝐬𝐞𝐚𝐬𝐞𝐬: ERN-EuroBloodNet was conceived to shed light on the 70+ rare blood disorders that affect thousands of patients in Europe; it currently involves 103 healthcare providers from across 24 member states. 🔹 𝐀 𝐏𝐚𝐭𝐢𝐞𝐧𝐭-𝐂𝐞𝐧𝐭𝐞𝐫𝐞𝐝 𝐀𝐩𝐩𝐫𝐨𝐚𝐜𝐡: By working hand in hand with EURORDIS-Rare Diseases Europe, the ERNs ensure patient voices are heard and their interests remain at the core of every action planned. Their role and involvement is crucial to continue empowering and advocating for every single person living with a rare disease in Europe. If you want to level up your knowledge on how #AI tools can help accelerating the implementation of #PrecisionMedicine in #Hematology, our upcoming #OnlineTraining Program is for you! It’s open and free for all researchers, clinicians and anyone in the healthcare/medical field who wishes to attend. Check the full agenda and register ➡️ https://lnkd.in/g-gwawhv

4

2 comentarios