jedzenie: Crohn's disease

Evidence: 100 • authority: 72

Crohn's disease (CD) is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea, fever, abdominal distension, and weight loss. Complications outside of the gastrointestinal tract may include anemia, skin rashes, arthritis, inflammation of the eye, and fatigue. The skin rashes may be due to infections, as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation, and those with the disease are at much greater risk of colorectal cancer and small bowel cancer. Although the precise causes of Crohn's disease are unknown, it is believed to be…

Evidence: 45 • authority: 88

Molecular Genetics of Crohn Disease. Abstract Genetic factors play a significant role in determining inflammatory bowel disease (IBD) susceptibility. Epidemiologic data support genetic contribution to the pathogenesis of IBD, which include familial aggregation, twin studies, racial and ethnic differences in disease prevalence. Genome‐wide linkage studies pointed towards more than 10 chromosomal regions and fine‐mapping of these regions led to the identification of a number of genes, including CARD15 ( NOD2 , nucleotide oligomerization domain 2), Drosophila long disc homologue 5 gene ( DLG5 ), OCTN1 and 2, TLR4 and CARD4 ( NOD1 ). New genes have identified such as IL23R , immunity‐related GT…

Evidence: 36 • authority: 92

Cell-free DNA fragmentome analysis informs pregnancy outcome in patients with immune-mediated disease.. Pregnancy complications contribute substantially to maternal and fetal morbidity and mortality. If complications are suspected early in pregnancy, individuals could be triaged to escalate care and ideally reduce adverse outcomes. However, clinical risk factors are poor predictors early in gestation. Cell-free DNA (cfDNA) fragmentomics has emerged as a promising biomarker in multiple disease states but has yet to be implemented in the prenatal setting. Here, we analyzed 1910 first-trimester blood cfDNA samples from pregnant individuals at high risk of an adverse pregnancy outcome (APO) bec…

Evidence: 36 • authority: 92

AI/ML-enabled multi-omics integration of host genetics, immunity, and the gut microbiome in Crohn's disease: From diagnosis to theranostics.. Crohn's disease is a long-term inflammatory disorder arising from the interaction of genetic risk factors, immune system dysfunction, and alterations in gut microbiota. Variability in clinical phenotypes and lack of biomarker specificity hinder the efficiency of current traditional diagnostic and treatment approaches. This review aims to assess how AI- and ML-driven multi-omics offer comprehensive insights into pathogenicity, thereby enhancing diagnostic techniques and personalized therapeutic approaches in CD. Current studies employ integration of mu…

Evidence: 35 • authority: 92

Outcomes of 'in-house' genetic testing within a specialist hereditary colorectal cancer registry.. Aims Approximately 5%-10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways. Method This study retrospectively reviewed clinical, pathological and genetic factors using prospectively collected data from the St Mark's Hospital Centre for Familial Intestinal Cancer registry. Between December 2021 and June 2023, consecutive patients at risk o…

Evidence: 27 • authority: 72

Metabolic dysfunction–associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), is a type of chronic liver disease. This condition is diagnosed when there is excessive fat build-up in the liver (hepatic steatosis), and at least one metabolic risk factor. When there is also increased alcohol intake, the term MetALD, or metabolic dysfunction and alcohol associated/related liver disease is used, and differentiated from alcohol-related liver disease (ALD) where alcohol is the predominant cause of the steatotic liver disease. The terms non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH, now known as metabolic dysfunction asso…

Evidence: 27 • authority: 72

Ulcerative colitis (UC) is one of the two types of inflammatory bowel disease (IBD), with the other type being Crohn's disease. It is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss, fever, and anemia may also occur. Often, symptoms come on slowly and can range from mild to severe. Symptoms typically occur intermittently with periods of reduced or absent clinical symptoms between flares, though persistent functional symptoms can remain during remission. Complications may include abnormal dilation of the colon (megacolon), inflammation of…

Evidence: 27 • authority: 80

The genetics of breast cancer: risk factors for disease

Evidence: 27 • authority: 80

Risk Factors of Complications After Ileocolic Resection for Crohn Disease According to the Comprehensive Complication Index

Evidence: 27 • authority: 92

Divergent effects of HLA-DQA1:p.Gln198Glu on trajectory in inflammatory bowel disease. Abstract Inflammatory bowel disease (IBD) is a polygenic condition, influenced by environmental factors, and demonstrating marked phenotypic heterogeneity. While genetic susceptibility is well characterised, genetic determinants of disease severity and progression remain unclear. We report the novel divergent effects of HLA-DQA1:p.Gln198Glu , associated with increased risk of complicated Crohn’s disease (odds ratio [OR]=1.15, P=2.41x10-9) and reduced severity in ulcerative colitis (OR=0.81, P=8.98x10 -12 ), particularly reduced risk for colectomy (OR=0.69, P=6.74x10 -12 ).. Authors: Fachal L, Zare B, Shar…