ABSTRACT
Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are closely related liver conditions that have become more prevalent globally. This review examines the intricate interplay between microbiome dysbiosis and mitochondrial dysfunction in the development of NAFLD and NASH. The combination of these two factors creates a synergistic situation referred to as "double trouble", which promotes the accumulation of lipids in the liver and the subsequent progression from simple steatosis (NAFLD) to inflammation (NASH). Microbiome dysbiosis, characterized by changes in the composition of gut microbes and increased intestinal permeability, contributes to the movement of bacterial products into the liver. It triggers metabolic disturbances and has anti-inflammatory effects. Understanding the complex relationship between microbiome dysbiosis and mitochondrial dysfunction in the development of NAFLD and NASH is crucial for advancing innovative therapeutic approaches that target these underlying mechanisms.
ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disorder characterized by congenital deformities of the big toes and the progressive formation of extra-skeletal bone within soft tissues. The underlying genetic cause of FOP is mostly due to gain-of-function mutations in the AVCR1/ALK2 genes. These mutations cause aberrant bone morphogenetic protein (BMP) signaling pathways and eventually result in cumulative musculoskeletal impairment. FOP has a prevalence of approximately one in every 2 million people worldwide, with nearly 90% of patients being misdiagnosed, possibly leading to an underestimation of its true prevalence. To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years. The diagnosis of generalized dystonia disorder was suspected, but eventually the whole exome sequencing showed a pathogenic missense mutation in the ACVR1 gene, confirming the diagnosis of FOP. FOP is a rare, debilitating disorder that can be difficult to diagnose and manage. Current research efforts are focused on early diagnosis and a high index of suspicion to help prevent unnecessary investigations and procedures, slow the progression of the disease, and promote patients' quality of life and long-term outcomes.
ABSTRACT
Abstract: Procalcitonin is an inflammatory marker that had shown marked potential as an antimicrobial stewardship tool for administering antibiotics when needed in patients with pneumonia as it raises concurrently with other inflammatory markers, yet no systematic review has assessed its potential in COVID-19 patients. This systematic review aimed to assess the potential appropriateness of procalcitonin as an antimicrobial stewardship tool in COVID-19 patients with superimposed bacterial and non-bacterial infections. All study designs published after 2019 were included in this systematic review. We included all studies that had reported procalcitonin levels in COVID-19 patients with suspected superimposed secondary infection(s). We searched MEDLINE, Scopus, and the Directory for Open Access Journal from April 2022 to May 2022 and retrieved all related articles for screening with no restrictions on language. We conducted risk of bias assessment according to the Critical Appraisal Skills Programme (CASP) criteria for cohort and case-control studies. Results were presented according to procalcitonin cut-off values, gold standard test used to confirm infection, and overall study conclusion(s), among other variables. This systematic review included 18 articles with 7196 patients in 8 countries. Despite different cut-off values of procalcitonin used, thirteen studies had indicated the appropriateness of using procalcitonin as antimicrobial stewardship tool in COVID-19 patients. We urge physicians to take this into account when treating COVID-19 patients suspected of superimposed infections and we look forward to further studies with standardized procalcitonin cut-off values that may provide appropriate quantitative data that can contribute to clinical guidelines. Registration PROSPERO: CRD42022315013.
