Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype–phenotype correlations germane to genetic counseling endeavors. The synthesis underscores that, notwithstanding the availability and strides in diagnostic methodologies, including genetic assays, the sweat test (ST) retains its position as the preeminent diagnostic standard for CF, serving as a robust surrogate for CFTR functionality. Prospective clinical investigations in the realm of CF should be orchestrated with the objective of discerning novel diagnostic modalities endowed with heightened specificity and sensitivity.

Cystic fibrosis (CF) is a multifaceted disorder predominantly investigated for its pulmonary manifestations, yet patients with CF also exhibit a spectrum of extrapulmonary manifestations, notably those involving the hepatobiliary system. The latter constitutes the third leading cause of morbidity and mortality in individuals with CF. Cystic fibrosis-related liver disease (CFLD), with an escalating prevalence, manifests diverse clinical presentations ranging from hepatomegaly to cirrhosis and hepatopulmonary syndrome. Consequently, early detection and appropriate management are imperative for sustaining the health and influencing the quality of life of CF patients afflicted with CFLD. This review aims to consolidate existing knowledge by providing a comprehensive overview of hepatobiliary manifestations associated with CF. It delineates the clinical hepatobiliary manifestations, diagnostic methodologies, incorporating minimally invasive markers, and therapeutic approaches, encompassing the impact of novel CFTR modulators on CFLD. Given the exigency of early diagnosis and the intricate management of CFLD, a multidisciplinary team approach is essential to optimize care and enhance the quality of life for this subset of patients. In conclusion, recognizing CF as more than solely a pulmonary ailment, the authors underscore the imperative for further clinical investigations to establish a more robust evidence base for CFLD management within the continuum of this chronic disease.

Background/Objectives: Maternal nutrition is an important exogenous factor which, together with other factors, may play a fundamental role in ensuring the well-being of the pregnant woman and in the development of the offspring, with long-term effects on health. Therefore, this narrative review aims to synthesize current evidence on how maternal dietary patterns and nutrient intake during pregnancy affect maternal well-being, pregnancy outcomes, fetal growth, and the short- and long-term health of the child, while addressing research gaps, and implications for antenatal nutrition guidance. Literature Search Strategy and Study Selection: A comprehensive literature search was performed using the electronic databases PubMed and Google Scholar. The selection and curation of articles were guided by the central research question: “How does maternal diet during pregnancy influence maternal health and offspring outcomes?” Results: The analysis of the literature reveals that the overall maternal dietary pattern is more important than the isolated intake of nutrients in determining the course of pregnancy and the long-term health of the offspring. Conclusions: The present review pointed out that maternal nutrition is not merely energy support for pregnancy, but a factor in fetal programming with a long-term impact on the child, in line with the Developmental Origins of Health and Disease (DOHaD) concept, and may act as an epigenetic and metabolic influence with potential transgenerational effects. Optimizing the diet in the periconceptional period and during pregnancy represents an accessible and effective form of preventive intervention, but it requires personalized recommendations and structured nutritional education begun as early as the preconception period.