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Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
Discussion: This large family with DBA demonstrates the heterogeneity of phenotypes that can be seen within the same genotype. Most family members presented with steroid-responsive anemia in infancy and subtle congenital malformations, findings consistent with recent genotype-phenotype studies of RPS DBA. However, two family members were relatively unaffected, underscoring the importance of further studies to assess modifier genes, and epigenetic and/or environmental factors which may result in normal erythropoiesis despite underlying ribosome dysfunction. This large, multigenerational family highlights the need for indivi...
Source: Frontiers in Genetics - July 18, 2022 Category: Genetics & Stem Cells Source Type: research

New Analyses Suggest Favorable Results for STELARA ® (ustekinumab) When Used as a First-Line Therapy for Bio-Naïve Patients with Moderately to Severely Active Crohn’s Disease and Ulcerative Colitis
SPRING HOUSE, PENNSYLVANIA, October 25, 2021 – The Janssen Pharmaceutical Companies of Johnson & Johnson today announced data from two new analyses of STELARA® (ustekinumab) for the treatment of adults with moderately to severely active Crohn’s disease (CD) and ulcerative colitis (UC).1,2 In a modelled analysisa focused on treatment sequencing using data from randomized controlled trials, network meta-analysis and literature, results showed patient time spent in clinical remission or response was highest when STELARA was used as a first-line advanced therapy for bio-naïve patients with moderately to severely acti...
Source: Johnson and Johnson - October 25, 2021 Category: Pharmaceuticals Tags: Innovation Source Type: news

Plant-Derived Alkaloids: The Promising Disease-Modifying Agents for Inflammatory Bowel Disease
Conclusion This paper summarizes the current findings regarding the anti-colitis activity of plant-derived alkaloids and shows how these alkaloids exhibit significant and beneficial effects in alleviating colonic inflammation. These natural alkaloids are not only promising agents for IBD treatment but are also components for developing new wonder drugs. However, the underlying molecular mechanisms or toxicological evaluation of most plant-derived alkaloids still require much scientific research, and their actual efficacies for IBD patients have not been verified well in field research. Thus, further clinical trials to elu...
Source: Frontiers in Pharmacology - April 11, 2019 Category: Drugs & Pharmacology Source Type: research

Acute bacterial infection negatively impacts cancer specific survival of colorectal cancer patients.
CONCLUSION: Infection and high neutrophil counts are associated with a poorer cancer-specific survival in colorectal cancer patients. PMID: 25320529 [PubMed - in process]
Source: World Journal of Gastroenterology : WJG - October 14, 2014 Category: Gastroenterology Authors: Attiê R, Chinen LT, Yoshioka EM, Silva MC, de Lima VC Tags: World J Gastroenterol Source Type: research