Journal of Hepatology ’s Post

Research Article Clinical Improvement in Early-Onset Interstitial Lung Disease Using Rituximab in Children With Antimelanoma Differentiation-Associated Gene 5–Positive Juvenile Dermatomyositis 📰 https://lnkd.in/gwjXHjzE #interstitiallungdisease #juveniledermatomyositis

Mouse model of gut bacteria dysregulation in IBD patients https://hubs.la/Q02b3btV0 Inflammatory bowel disease affects the lives of patients every day and also increases their risk of developing certain cancers. To study this condition researchers in Riverside, California knocked out the key gene PTPN2 in specific intestinal cells in mice, resulting in dramatic changes to the gut microbiome. Understanding this mechanism may lead to treatments that counteract the growth of harmful bacteria in IBD patients. #ibdawareness #ibdresearch #inflammatoryboweldisease #inflammatoryboweldiseaseawareness #guthealthmatters #guthealthresearch #guthealthforlife #gutmicrobiome #gutmicrobiomediversity #genetargeting #geneediting #mousemodels

A systematic review (DOI: 10.1002/ijd3.1182) examines autophagy-related gene polymorphisms and their impact on HBV-associated hepatocellular carcinoma (HCC). Of 422 studies, polymorphisms like rs2241880 in ATG16L1 and rs77859116, rs510432, and rs548234 in ATG5 were significant. These genetic variations were notably associated with an elevated risk of HBV infection, which could lead to HCC. This underscores the genetic underpinnings that may influence HBV infection outcomes and HCC development. #LiverCancer #GeneticRiskFactors #AutophagyGenes #HBVResearch #MedicalGenomics

Tuberculosis of the spine is a devastating disease characterized by high mortality rates due to delayed diagnosis and significant long-term morbidity, even with appropriate treatment. In our Spinal TB X cohort, we aim to classify the clinical phenotype of spinal TB using whole-body PET/CT and to identify the unique gene expression signature associated with this form of extrapulmonary tuberculosis. Our recent case publication by Dr. med. Julian Scherer highlights the extensive nature of this disease #SpinalTBX https://lnkd.in/gj2nPumz

Research Article Long-Term Prognosis of Antimelanoma Differentiation–Associated Gene 5–Positive Dermatomyositis With Interstitial Lung Disease 📰 https://lnkd.in/gVnsHE_H #autoantibody #dermatomyositis #interstitiallungdisease

An easy-to-use prediction classification system (the CROSS model) could aid in the early detection patients anti-melanoma differentiation-associated gene 5 positive #dermatomyositis (anti-#MDA5+) who have a high risk to develop rapidly progressive interstitial lung disease (RP-ILD). This model uses clinical variables that could be easily obtained during the routine clinic visit, and based on the CROSS score (range from 0 to 6), anti-MDA5+DM patients were classified as moderate risk (CROSS score = 0-2), high risk (CROSS score = 3-4), and very high risk (CROSS score = 5-6) for developing of RP-ILD, respectively. 🔗https://lnkd.in/dQMHDseY

Ashira D. Blazer, rheumatologist at HSS recently delivered the Edmond L. Dubois, MD Memorial Lectureship at the American College of Rheumatology (ACR) meeting. This annual lectureship features an outstanding investigator in the area of lupus research. Dr. Blazer explored the disparities in lupus outcomes among African American patients, the socioeconomic and societal factors that influence these outcomes, and the role of genetic risk, notably the APOL1 gene variant, which is prevalent in about 13% of individuals of recent African descent. Learn more: https://lnkd.in/etAsVCu2

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, memory loss, and behavioral changes. It is the most common cause of dementia among older adults. One of the significant genetic risk factors for Alzheimer's is the presence of the APOE4 (apolipoprotein E4) allele. The APOE4 allele is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD). The risk and age of onset for Alzheimer's can be significantly influenced by the number of APOE4 alleles a person carries:    One APOE4 allele (heterozygous): Individuals have a 2-3 times higher risk of developing Alzheimer's compared to those without any APOE4 alleles.    Two APOE4 alleles (homozygous): Individuals have a 10-15 times higher risk and tend to develop the disease at an earlier age. #Alzheimers #APOE4 #homozygousity

A significant number of primary immunodeficiency diseases (PIDs) were first reported in patients living in the Middle East. Given the high rate of consanguinity in the region, PIDs are commonplace across the region. According to the Center of Arab Genomic Studies about 2.8 million patients are living with a rare disease in the Middle East. One such PID is the Wiskott-Aldrich syndrome - a rare genetic immunodeficiency which makes it difficult for the bone marrow to produce platelets, making a child prone to bleeding. Treatment options include immunoglobulin (antibody) infusions, platelet transfusions, topical creams for eczema, and steroids or similar medications to control autoimmunity. In severe cases a bone marrow transplant or gene therapy can also be considered. On the occasion of rare disease day, CSL Behring is working relentlessly to provide hope to several patients across the world. #MEA #RareDisease #DrivenbyOurPromise #WiskottAldrichSyndrome

📃Scientific paper: SUMO-modifying Huntington’s disease Abstract: Small ubiquitin-like modifiers, SUMOs, are proteins that are conjugated to target substrates and regulate their functions in a post-translational modification called SUMOylation. In addition to its physiological roles, SUMOylation has been implicated in several neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, and Huntington’s diseases (HD). HD is a neurodegenerative monogenetic autosomal dominant disorder caused by a mutation in the CAG repeat of the huntingtin (htt) gene, which expresses a mutant Htt protein more susceptible to aggregation and toxicity. Besides Htt, other SUMO ligases, enzymes, mitochondrial and autophagic components are also important for the progression of the disease. Here we review the main aspects of Htt SUMOylation and its role in cellular processes involved in the pathogenesis of HD. Continued on ES/IODE ➡️ https://etcse.fr/mWP ------- 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.