Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause

Role of K+ channels in the expression of dependence by A1 receptor-stimulationin guinea pig ileum (GPI)

Aim: In previous works we have seen that the A1 adenosine acute withdrawal response in GPI is controlled by indirectly activated opioid system leading to a cross-dependence. In the present study we aimed to see if 4-AP and TEA , known inhibitors of K+ channels could: a) Increase the GPI precipitated contractions when administrated with a selective adenosine A1-receptor agonist, b) Determine a contraction to the adenosine A1-receptor antagonist, CPT in naive preparations Methods: The experimental procedure was that used by Valeri et al., (Neuropharmacology, 1996). After a first CPA/CPT test (CPA; 2.9x10-9 M: CPT; 4x10-7 M), GPI preparations were exposed for 5 min to CPA and then challenged with 4-AP (1-4 mM) or TEA (60-240 mM), and 5 min later, with CPT. In subsequent tests the m- and k-opioid antagonist NL (5.4x 10-7M) and BNI (3.4x10-8 M) were added before CPT. In naive GPI preparations 4-AP and TEA were injected before CPT and then before or after NL and BNI. Results: Administrated after or without CPA, 4-AP and TEA increased in a dose-related way the contractile response to CPT. Administration of BNI/NL/CPT after the highest dose of 4-AP elicited a strong contraction to BNI, but not increase the ones to the other antagonists. Conclusion: The K+ channels can play an important role in the expression of dependence, probably due to the ability of these K+ channel blockers to unmasking the constitutive activity of adenosine A1, m- and k-opioid receptor antagonist

Vitamin D and SARS-CoV2 infection, severity and mortality: A systematic review and meta-analysis

To assess the evidence on SARS-CoV2 infection and Covid-19 in relation to deficiency and supplementation of vitamin D, we conducted a systematic review up to April 2021. We summarised data from 38 eligible studies, which presented risk estimates for at least one endpoint, including two RCT and 27 cohort-studies: 205565 patients with information on 25OHD status and 2022 taking vitamin D supplementation with a total of 1197 admitted to the ICU or who needed invasive mechanical ventilation or intubation and hospital stay, and more than 910 Covid-19 deaths. Primary outcomes were severity and mortality and the main aim was to evaluate the association with vitamin D supplementation. Random effects models showed that supplementation was associated with a significant lower risk of both Covid-19 severe disease (SRR 0.38, 95% CI 0.20-0.72, 6 studies) and mortality (SRR 0.35, 95% CI 0.17-0.70, 8 studies). There were no statistically significant dose differences between studies: summary estimates with regular doses remain statistically significant, suggesting that higher doses are not necessary. For patients on vitamin D supplementation, a greater reduction in mortality risk emerged in older individuals and at higher latitudes. Regarding the quality of studies, assessed using the New Castle-Ottawa quality scale, the analysis revealed in most cases no statistically significant differences between low, medium or high quality studies. We found significant associations of vitamin D supplementation with Covid-19, encompassing risks of disease worsening and mortality, especially in seasons characterized by 25OHD deficiency and with not severe patients. Dedicated randomized clinical studies are encouraged to confirm these results

Molecular ecology and phylogenetics of the water beetle genus Ochthebius revealed multiple independent shifts to marine rockpools lifestyle

Marine rockpools represent a dynamic ecosystem where inhabiting species usually suffer changeable conditions, with consequent phenomena of local populations' size expansions and reductions. Nevertheless, a few specialized insect groups are known to live in marine rockpools, and among them, several species belong to the water beetle family Hydraenidae. Three groups of Ochthebius sensu lato (s.l.) live in fact in marine rockpools: the putative subgenus Calobius, the former subgenus Cobalius (both mostly Mediterranean-Macaronesian) and two species of the O. capicola group from South Africa. In this work, we performed a molecular phylogeny of Ochthebius s.l., running molecular clocks, aiming to address the following questions: Are these three groups related? Which is their position within Ochthebius s.l.? How many different times and in how many lineages of Ochthebius s.l. a shift from inland waters to marine rockpools environments happened? Is the current taxonomic status of these three groups supported by genetics? We found that Calobius, Cobalius and the O. capicola group represent three distinct groups, with no sister relationships, suggesting that a shift from fresh/brackish waters to marine rockpools happened independently at least three different times along the diversification of the genus. Cobalius represents an effective separate subgenus, whereas such a rank is not supported by molecular data for Calobius, which represents a monophyletic clade within the nominal subgenus Ochthebius sensu stricto (s.str.). However, as Calobius is monophyletic and characterized by strongly peculiar and distinguishing morphology, we suggest referring to this group as the 'Calobius' lineage. Three Mediterranean taxa within this lineage represent likely valid new species, to be described soon. In the same way, the taxonomy of Cobalius should be revised, with two previously formally recognized species found to be paraphyletic, and the possible presence of two additional cryptic species