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During pregnancy, significant physiological changes occur that result in cardiac remodeling and altered functional performance, though these are generally reversible postpartum. Pregnancy increases the cardiovascular system's demand, requiring substantial adaptations such as elevated cardiac output (CO), plasma volume, stroke volume (SV), and heart rate (HR), alongside a reduction in systemic vascular resistance (SVR) and mean arterial pressure. These adaptations, essential to meet the hemodynamic needs of both the mother and fetus, often differ from standard echocardiographic measurements used to evaluate cardiac function, making interpretation challenging. Accurate identification of normal echocardiographic parameters during pregnancy is crucial to establishing a baseline for detecting pathological changes. Deviations from these baselines, when recognized early, can assist in risk stratification and inform clinical management of conditions such as heart failure, arrhythmias, or valvular disease. However, many existing studies rely on cross-sectional designs, limiting their ability to provide comprehensive longitudinal insights. For pregnant women, the lack of standardized echocardiographic reference values represents a critical gap. The physiological changes unique to this population, including increased CO and ventricular dimensions, complicate the interpretation of echocardiographic studies using non-pregnant norms. This shortfall can hinder the identification of subclinical cardiovascular alterations, delaying timely intervention. The development of pregnancy-specific echocardiographic reference values is essential for advancing preventive and personalized care. Such tailored references would improve diagnostic accuracy, facilitating early detection and management of pregnancy-related cardiac changes and their potential pathological implications., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Inc.)

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Connective tissue connects and supports all other tissues of the body and is composed of cells and extracellular matrix (ECM). Several proteins have been involved in the connective tissue abnormalities associated with the FXS, such as matrix metalloproteinase 9, which plays an important role in the homeostasis of the ECM, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS. Here, we review connective tissue problems described in FXS., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.