This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research.
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http://dx.doi.org/10.1007/s10803-019-04231-6 | DOI Listing |
Annu Rev Med
January 2025
Division of Gastrointestinal and Liver Diseases, Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA; email:
Hepatorenal syndrome-acute kidney injury (HRS-AKI) occurs in the setting of advanced chronic liver disease, portal hypertension, and ascites. HRS-AKI is found in ∼20% of patients presenting to the hospital with AKI, but it may coexist with other causes of AKI and/or with preexisting chronic kidney disease, thereby making the diagnosis challenging. Novel biomarkers such as urinary neutrophil gelatinase-associated lipocalin may be useful.
View Article and Find Full Text PDFUnited European Gastroenterol J
January 2025
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Introduction: Metabolic dysfunction-associated steatotic liver disease (MASLD) has been linked to pancreatic diseases, but evidence from population-based studies with liver histology is lacking.
Aims And Methods: In this population-based cohort including all Swedish adults (n = 8563) with biopsy-proven MASLD, we aimed to investigate incidences of pancreatic diseases compared with matched reference individuals from the general population (n = 38,858) and full siblings (n = 6696). Using Cox proportional hazard models, we calculated multivariable adjusted hazard ratios (aHRs) and confidence intervals (CIs).
Gastroenterol Rep (Oxf)
January 2025
Department of Gastroenterology-Hepatology, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands.
Dysfunction of the vagus nerve has been suggested as a contributing factor in various gastrointestinal disorders, prompting interest in vagus nerve stimulation (VNS) as a non-pharmacological therapy. We performed a systematic review to determine the efficacy of invasive and non-invasive VNS in gastrointestinal disorders, including inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), functional dyspepsia (FD), functional constipation, gastroesophageal reflux disease, and gastroparesis. We applied a systematic search of the literature in the PubMed, Embase, Web of Science, and Cochrane Library databases in order to identify studies comparing VNS with an adequate control condition (sham stimulation) in patients with gastrointestinal disorders.
View Article and Find Full Text PDFCureus
December 2024
Pediatric, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive condition that is defined by low platelet count and platelet dysfunction characterized by the absence or dysfunction of the complex on the platelet surface. It is characterized by large defective platelets and thrombocytopenia. BSS is usually presented early in life.
View Article and Find Full Text PDFFront Neurol
January 2025
Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan, China.
Autoimmune autonomic ganglionopathy (AAG) is a rare and acquired immune-mediated disease that leads to wide autonomic failure, mainly characterized by orthostatic hypotension, gastrointestinal dysfunction, anhidrosis and poorly reactive pupils. This disorder is usually associated with autoantibodies to the ganglionic nicotinic acetylcholine receptor (gAChR-Ab). In this study, we describe a case of a gAChR-Ab-positive AAG patient with two therapeutic stages.
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