A case of recurrent acute aortic syndrome: Beyond emergency diagnosis and treatment

Introduction: Acute aortic syndromes (AAS) are emergency conditions with a common pathway but various clinical manifestations. In order to reduce the extremely poor prognosis, these syndromes require a rapid diagnosis and decision making.Case report: We report the case of a young black woman with recurrent aortic dissection (RAD), presenting to the Emergency Department (ED) with an atypical symptom: ankle soreness. After the surgical treatment, several exams were performed in order to investigate underlying conditions for recurrence: after a first suspicion of tuberculous aortitis, the final diagnosis was Takayasu's arteritis.Discussion: The aim of this article is to underline the extremely heterogeneous presentation of AAS that worsens the already complicated process in diagnosing the syndromes. Despite uncommon signs and symptoms, identifying patients with a high pre-test likelihood for the disease is crucial to promptly get a correct diagnosis. Once the diagnosis has been confirmed, since AAS may be a spy for important systemic diseases, conditions such as congenital disease, autoimmune and infectious aortitis need to be excluded and treated to prevent any recurrence or systemic implications

Light-Triggered Trafficking to the Cell Nucleus of a Cationic Polyamidoamine Functionalized with Ruthenium Complexes

Strategies for endosomal escape and access to the cell nucleus are highly sought for nanocarriers to deliver their load efficiently following endocytosis. In this work, we have studied the uptake and intracellular trafficking of a polycationic polyamidoamine endowed with a luminescent Ru complex, Ru-PhenAN, that shows unique trafficking to the cell nucleus. Live cell imaging confirmed the capacity of this polymer to access the nucleus, excluding artefacts due to cell fixation, and clarified that the mechanism of escape is light-triggered and relies on the presence of the Ru complexes and their capacity to absorb light and act as photosensitizers for singlet oxygen production. These results open up the possibility to use polyamidoamineruthenium complexes for targeted light-triggered delivery of genetic material or drugs to the cytosol and nucleus

In Bonobos Yawn Contagion Is Higher among Kin and Friends

In humans, the distribution of yawn contagion is shaped by social closeness with strongly bonded pairs showing higher levels of contagion than weakly bonded pairs. This ethological finding led the authors to hypothesize that the phenomenon of yawn contagion may be the result of certain empathic abilities, although in their most basal form. Here, for the first time, we show the capacity of bonobos (Pan paniscus) to respond to yawns of conspecifics. Bonobos spontaneously yawned more frequently during resting/relaxing compared to social tension periods. The results show that yawn contagion was context independent suggesting that the probability of yawning after observing others\u27 yawns is not affected by the propensity to engage in spontaneous yawns. As it occurs in humans, in bonobos the yawing response mostly occurred within the first minute after the perception of the stimulus. Finally, via a Linear Mixed Model we tested the effect of different variables (e.g., sex, rank, relationship quality) on yawn contagion, which increased when subjects were strongly bonded and when the triggering subject was a female. The importance of social bonding in shaping yawn contagion in bonobos, as it occurs in humans, is consistent with the hypothesis that empathy may play a role in the modulation of this phenomenon in both species. The higher frequency of yawn contagion in presence of a female as a triggering subject supports the hypothesis that adult females not only represent the relational and decisional nucleus of the bonobo society, but also that they play a key role in affecting the emotional states of others

Cuore e Turner: cosa c'\ue8 oltre la coartazione?

A young woman affected by Turner syndrome undergoes periodic cardiac monitoring. Her last ECG documented QT prolongation. QT prolongation is reported in patients with Turner syndrome. This electrophysiological abnormality is probably due to an intrinsic defect in the regulation of the cardiovascular system. Although a long QT is more likely to be found in these patients, no severe life-threatening tachyarrhythmias have been described so far. Paediatricians should reassure Turner patients about the prognosis of this electrophysiological abnormality while recommending the cardiologic follow up

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?

Abstract Background The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. Case report We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step. Conclusion In a boy with CAH and small testicular volume, it’s important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out

Tuning Polyamidoamine Design to Increase Uptake and Efficacy of Ruthenium Complexes for Photodynamic Therapy

In this work, we report the synthesis of [Ru(phen)3 2+]-based complexes and their use as photosensitizers for photodynamic therapy (PDT), a treatment of pathological conditions based on the photoactivation of bioactive compounds, which are not harmful in the absence of light irradiation. Of these complexes, Ru-PhenISA and Ru-PhenAN are polymer conjugates containing less than 5%, (on a molar basis), photoactive units. Their performance is compared with that of a small [Ru(phen)3 2+] compound, [Ru(phen)2BAP](OTf)2 (BAP = 4-(4′-aminobutyl)-1,10-phenanthroline, OTf = triflate anion), used as a model of the photoactive units. The polymer ligands, PhenISA and PhenAN, are polyamidoamines with different acid-base properties. At physiological pH, the former is zwitterionic, the latter moderately cationic, and both intrinsically cytocompatible. The photophysical characterizations show that the complexation to macromolecules does not hamper the Ru(phen)3 2+ ability to generate toxic singlet oxygen upon irradiation, and phosphorescence lifetimes and quantum yields are similar in all cases. All three compounds are internalized by HeLa cells and can induce cell death upon visible light irradiation. However, their relative PDT efficiency is different: the zwitterionic PhenISA endowed with the Ru-complex lowers the PDT efficiency of the free complex, while conversely, the cationic PhenAN boosts it. Flow cytometry demonstrates that the uptake efficiency of the three agents reflects the observed differences in PDT efficacy. Additionally, intracellular localization studies show that while [Ru(phen)2BAP](OTf)2 remains confined in vesicular structures, Ru-PhenISA localization is hard to determine due to the very low uptake efficiency. Very interestingly, instead, the cationic Ru-PhenAN accumulates inside the nucleus in all treated cells. Overall, the results indicate that the complexation of [Ru(phen)2BAP](OTf)2 with a cationic polyamidoamine to give the Ru-PhenAN complex is an excellent strategy to increase the Ru-complex cell uptake and, additionally, to achieve accumulation at the nuclear level. These unique features together make this compound an excellent photosensitizer with very high PDT efficiency

Mothers and Fathers Facing Their Children’s Phenylketonuria

The aim of this study is to understand the impact of children’s Phenylketonuria (PKU) on mothers and fathers and to assess the mutual influence of the psychological functioning of one parent on the other. Thirty-three mothers and thirty-three fathers of PKU-affected children and 43 mothers and 43 fathers of non-PKU-affected children were involved. All of the parents filled out the Los Angeles Symptoms Checklist, the Profile of Mood Scale, the Parenting Stress Index-Short Form, and the Coping Health Inventory for Parents. We performed parametric intergroup analysis and multiple regressions. Results pointed out that there is a link between maternal stress and maternal negative states of mind, trauma-related symptoms, and paternal coping strategies. As regard fathers, there is a link between paternal stress and maternal trauma-related symptoms. Our findings suggest it will be important to better investigate the role played by paternal response in supporting mothers of a chronically ill child, since they confirm the importance of taking into account the points of view of both mothers and fathers and their mutual influences in responding to PKU diagnosis

Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study

Objectives: The aim of the study is to evaluate the compliance rate to secondary prophylaxis and the presence of rheumatic heart disease (RHD) in a cohort of Italian patients with acute rheumatic fever (ARF). Methods: This is a multicentre retrospective study. The patients were divided into two groups by the presence or absence at last follow-up of RHD. Clinical features, ARF recurrences and the rate of compliance to secondary prophylaxis were evaluated. Results: Two-hundred and ninety patients were enrolled (137 females; 153 males). Carditis at onset was present in 244 patients (84.7%). At the end of follow-up, 173 patients manifested RHD. Adherence to secondary prophylaxis was low in 26% of patients. The presence of RHD at follow-up was associated with the presence of carditis and its severity at onset (p=0.001), but it was not related to secondary prophylaxis adherence (p=NS). No association between prophylaxis adherence and ARF recurrence was found (p=NS) nor between ARF recurrence and RHD at the end of follow-up (p=NS). Conclusions: Poor adherence to secondary prophylaxis does not seem to be associated with increased risk of RHD in developed countries. Further studies are needed to confirm our data in a larger population