Jean-Philippe Combal’s Post

We are delighted to share our findings in a peer reviewed paper published in the World Journal of Hepatology, titled ‘Characteristics of patients with Wilson Disease in the United States: An insurance claims database study.’   #WilsonDisease (WD) is a progressive, potentially fatal degenerative disease affecting the liver and central nervous system. The worldwide prevalence of WD has been estimated to occur in one in 30,000 to 40,000 people.   The retrospective cohort study revealed its findings on patients in the US with WD based on a comprehensive insurance claims database due to the ongoing challenges of collecting large cohorts of patients with rare diseases and the low prevalence of WD.   The study evaluating 5,376 patients who had submitted documented claims and identified as suffering with WD displayed increasing amounts of psychiatric and neurological manifestations over a 5-year follow-up period. The study ultimately concluded that patients treated with WD in the US had an excess early mortality ratio of 2.19 when compared with the US population, with a mean age of death at 52.7 years. These findings indicate that there is a significant unmet medical need for more effective treatments for WD in the US, alongside corroborating data published from France, Sweden, Poland, South Korea and the UK.    The statistics in the infographic further highlight the prevalence and ongoing burden of patients with WD. Read the full paper 📰 here https://bit.ly/4bURpY6.   #AAVGeneTherapy #GenomicMedicines #CellandGeneTherapy #GenomeEditing #CGT

Alcohol-associated liver disease (#ALD) is a major global health concern, leading to high rates of liver-related morbidity and mortality. A new Consensus Statement by Mack Mitchell, Laura Nagy & colleagues highlights the urgent need for clinical trials to explore effective treatments that integrate approaches for both ALD and alcohol use disorder (#AUD). The guidelines, published in Nature Reviews Gastroenterology & Hepatology, delve into the complexities of treating ALD alongside AUD, emphasizing the importance of combining methodologies from both fields to enhance the quality and effectiveness of clinical trials. After an extensive literature search and discussion of expert opinion, 28 recommendations for clinical trials of alcohol use and ALD were developed, with recommendations related to definitions of alcohol use, minimum data sets, statistical considerations and more. READ HERE: https://lnkd.in/eBVa_p3M An accompanying News & Views by Juliana Serrazine & Helena Cortez-Pinto puts these new recommendations into context and discuss how the new guidelines offer a structured framework for conducting research in this field, which should hopefully facilitate development of novel therapies. READ HERE: https://rdcu.be/dKNhq #alcoholusedisorder #alcoholrelatedliverdisease #liverdisease #alcoholpolicy #alcoholuse #alcoholassociatedliverdisease #steatoticliverdisease #metALD

Tremendous key take away message at #EASLCongress where the latest clinical practice guidelines from were presented by Frank Tacke: " Patients with either #obesity or #diabetes + cardiovascular risk or elevated liver enzymes and in the intermediary zone for FIB-4 may have a liver stiffness measurement #LSM for screening and potential referral to #hepatology care." With the ultraportability of #Hepatoscope, E-Scopics intends to offer #pointofcare solutions for both LSM and quantitative steatosis measurements to #democratize the screening of at-risk patients from primary care settings. European Association for the Study of Obesity (EASO) , EASL | The Home of Hepatology , European Association for the Study of Diabetes e.V. (EASD)

We are honored to have you on our team of expert healthcare professionals! Check out Dr. Joel Topf's content in #nephrology and more on #MashupMD

"#Hypertension (high blood pressure) affects approximately one-third of adults and is a major risk factor for cardiovascular diseases, renal diseases and dementia, creating enormous health and economic burdens globally. The #Kidney controls blood pressure by regulating fluid and electrolyte homeostasis. Integral to this process is the NCC, a sodium–chloride cotransporter, which has a major role in fine-tuning urinary Na+ and Cl− excretion, regulating ion and acid–base balance, and controlling #BloodPressure! Decreased activity of the NCC underlies #GitelmanSyndrome, while increased activity of the NCC underlies #PseudoHypoAldosteronism Type II. Thus, the NCC is a prime #DrugTarget of pharmacological therapies for #Renal and #Cardiovascular disorders, including thiazide #Diuretics! Thiazide diuretics were the first oral antihypertensive #Drugs with decent #Efficacy and safety and remain the preferred first-line antihypertensive drugs. Despite being among the most widely prescribed drugs, the #MechanismOfAction (MoA) of thiazide diuretics selectively inhibition of and electroneutral transport of Na+ and Cl− via NCC remains elusive!" Do not miss this amazing article published in the Nature Magazine in which Liang Feng and colleagues from Stanford University School of Medicine determined the #CryoEM structures of human NCC alone and in complex with a commonly used thiazide diuretic: https://lnkd.in/eBigan2i These structures, together with functional studies, reveal major conformational states of the NCC and an intriguing regulatory MoA. They also illuminate how thiazide diuretics specifically interact with the NCC and inhibit its #Transport function! Overall, these results provide critical insights for understanding the Na–Cl cotransport mechanism of the NCC, and they establish a framework for future #DrugDesign and #DrugDevelopment as well as for interpreting disease-related mutations! If you are interested in how Cryo-EM is revolutionizing #DrugDiscovery, please follow this weblink to gain some deeper insights from there: https://lnkd.in/eXW7K_U6

Congratulations to our Vienna Bone and Growth Center team from Ludwig Boltzmann Institute of Osteology Hanusch-Krankenhaus (Lead: Roland Kocijan) on publishing another important rare disease paper. Martina Behanova et al. observed that Health Related Quality of Life in adult patients with rare bone diseases (XLH, Hypophosphatasia, Osteogenesis imperfecta) is lower than compared to osteoporotic and control group in the Austrian population. Fatigue has significant negative impact on HRQoL and it is important to address it when meeting with RBD patients in clinical practice. https://lnkd.in/dMnF5dsK #raredisease #multidisciplinary #qol #XLH #vbgc #Osteogenesisimperfecta #hpp #hypophosphatasia #fatigue

🚨New Study Alert! 🚨 Unraveling the mysteries of liver health: "Four hepatic steatosis indices in predicting quantitative computed tomography-based metabolic dysfunction-associated fatty liver disease" is published! 🔍Discover how our latest research delves into non-invasive predictors of a growing health concern. Are hepatic steatosis indices the key to early detection and intervention? 👉Stay ahead in the field of hepatology by reading & downloading the full article now! 👉Scan the QR code or click the link below for direct access: https://lnkd.in/g4Njza9r After reading, don't forget to share your thoughts and the article within your network. Together, we can raise awareness and drive progress against metabolic dysfunction. #HepaticSteatosis #LiverHealth #FattyLiverDisease #MetabolicDysfunction #MedicalResearch #ShareTheKnowledge

Expanding Diagnostic Horizons: Hurdle's Latest Innovations in Blood Testing In an exciting update from Hurdle, co-founder and Science Development Manager Toby Call announces the launch of new testing solutions designed to meet the growing demand for accessible, off-the-shelf diagnostic tests. Understanding the need for speed in test deployment, Hurdle has broadened its offerings with a versatile range of blood testing kits that cater to essential health concerns. From at-home capillary testing kits for male and female health, including fertility and thyroid screenings, to vital tests for metabolic health and key nutrients, Hurdle is at the forefront of enabling proactive health management. The addition of tests for Lyme disease, digestive health, and autoimmune conditions further underscores our commitment to addressing widespread health issues. Moreover, the launch of an advanced heart health screening test represents a significant leap forward in our mission to provide insights into cardiovascular disease risks. Coupled with our nationwide phlebotomy network, these enhancements in our blood panel range promise a new era of convenience and comprehensiveness in health diagnostics. Read the full article here: https://hubs.li/Q02mZqRP0