Gut microbiome and its clinical implications: exploring the key players in human health.

PURPOSE OF REVIEW: The human gut harbors a diverse community of microorganisms known as the gut microbiota. Extensive research in recent years has shed light on the profound influence of the gut microbiome on human health and disease. This review aims to explore the role of the gut microbiome in various clinical conditions and highlight the emerging therapeutic potential of targeting the gut microbiota for disease management. RECENT FINDINGS: Knowledge of the influence of gut microbiota on human physiology led to the development of various therapeutic possibilities such as fecal microbiota transplant (FMT), phage therapy, prebiotics, and probiotics. Recently, the U.S. FDA approved two FMT products for the treatment of recurrent Clostridioides difficile infection with ongoing research for the treatment of various disease conditions. SUMMARY: Advancement in the knowledge of the association between gut microbiota and various disease processes has paved the way for novel therapeutics.

Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation.

Cerebrotendinous xanthomatosis (CTX), also known as CTX, is an extremely rare bile acid metabolic disorder caused by mutations in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. This genetic disease is inherited in an autosomal recessive manner, and it affects the enzyme sterol 27-hydroxylase, which is involved in the bile acid metabolic process. It is distinguished by diarrhoea in infancy, early juvenile cataract, tendon xanthomas in adolescence, and progressive neuropsychiatric dysfunction in adulthood. So far, India has reported eight genetically confirmed cases. We present two cases of CTX among siblings in a family. The elder sibling was initially diagnosed, and after reviewing his family history and performing a thorough clinical examination, we discovered a similar manifestation in his younger sibling. Genetic testing on the siblings revealed similar mutations at exon 2 of the CYP27A1 gene. If a pathogenic mutation is discovered in a family member, prenatal and preimplantation genetic testing, as well as childhood screening, are the options. These screening strategies will prevent the onset of neuropsychiatric manifestations and disability.