ABSTRACT
The human gut microbiome, an intricate ecosystem housing trillions of microorganisms within the gastrointestinal tract, holds significant importance in human health and the development of diseases. Recent advances in technology have allowed for an in-depth exploration of the gut microbiome, shedding light on its composition and functions. Of particular interest is the role of diet in shaping the gut microbiome, influencing its diversity, population size, and metabolic functions. Precision nutrition, a personalized approach based on individual characteristics, has shown promise in directly impacting the composition of the gut microbiome. However, to fully understand the long-term effects of specific diets and food components on the gut microbiome and to identify the variations between individuals, longitudinal studies are crucial. Additionally, precise methods for collecting dietary data, alongside the application of machine learning techniques, hold immense potential in comprehending the gut microbiome's response to diet and providing tailored lifestyle recommendations. In this study, we investigated the complex mechanisms that govern the diverse impacts of nutrients and specific foods on the equilibrium and functioning of the individual gut microbiome of seven volunteers (four females and three males) with an average age of 40.9 ± 10.3 years, aiming at identifying potential therapeutic targets, thus making valuable contributions to the field of personalized nutrition. These findings have the potential to revolutionize the development of highly effective strategies that are tailored to individual requirements for the management and treatment of various diseases.
ABSTRACT
A 16-year-old boy affected by Sotos syndrome was referred to our clinic for cardiac evaluation in order to play noncompetitive sport. Physical examination was negative for major cardiac abnormalities and rest electrocardiogram detected only minor repolarization anomalies. Transthoracic echocardiography showed left ventricular wall thickening and apical trabeculations with deep intertrabecular recesses, fulfilling criteria for isolated left ventricular noncompaction (ILVNC). Some sporadic forms of ILVNC are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35. To our knowledge, this is the first report of a patient affected simultaneously by Sotos syndrome and ILVNC.
ABSTRACT
Isolated left ventricular noncompaction (ILVNC) is a cardiomyopathy caused by intrauterine arrest of compaction of the myocardial fibres and meshwork, an important process in myocardial development. ILVNC is clinically accompanied by depressed ventricular function, arrhythmias, and systemic embolization. We reported a case of ILVNC with basal ECG-tracing strongly suggestive for type-2 Brugada syndrome (BrS). Up to now, this is the first report investigating the association between ILVNC and this particular ECG pattern.
ABSTRACT
The well-known relationship between low birth weight and allergies prompted us to investigate a possible pleiotropic effect of ACP1 on these conditions. ACP1 is a polymorphic enzyme that affects signal transduction of insulin and other growth factors, T-cell receptor signaling, and the regulation of flavoenzyme activity. Our aim was to compare the relationship between ACP1 and allergy with the relationship between ACP1 and birth weight. We studied 299 subjects from the Caucasian population of England, 124 subjects from the Caucasian population of central Italy, and 302 healthy puerperae and their newborn babies from the same Caucasian populations. ACP1 phenotype was determined by starch gel electrophoresis on RBC hemolysate and by DNA analysis. Subjects with high ACP1 activity (ACP1 C,B phenotype) show a lower level of IgE compared to subjects with low ACP1 activity (p = 0.01). The proportion of infants with a birth weight below the first quartile is lower among infants born to mothers with high ACP1 activity than among infants born to mothers with medium-low activity (p = 0.01). The data suggest a protective effect of high-activity ACP1 C,B phenotype from low birth weight and from allergic manifestations after birth.
