PGT-A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back?

Embryo aneuploidies may be responsible for implantation failures, miscarriages and affects IVF outcomes. A variety of technologies have been implemented to individuate euploid embryos in IVF treatments, which is named preimplantation genetic testing for aneuploidies (PGT-A). According to this strategy, a better embryo selection should increase IVF results. In reality, several issues remain unaddressed including the sampling strategy, involving the test outcomes, and the frequent occurrence of embryo mosaicism, affecting the criteria for selection of supposed viable embryos and possibly posing an ethical dilemma. Safety issues are in place, including perinatal and postnatal consequences of embryo sampling and the epigenetic weaknesses from a prolonged in vitro culture, necessary for trophectoderm biopsy. On the other side, chromosome number mistakes are progressively recognized as physiologic events in the early pre-implantation embryo with many corrective mechanisms in place and their destiny in the post-implantation development is unclear. Accordingly, the increasing precision of the diagnostic tools should be used to investigate the effect of such interventions within rigorous research programs in the sake of improved clinical outcomes. Meantime the diagnosis of embryo aneuploidies in IVF cycles should be considered as a research tool and systematic implementation in clinical practice may appear unjustified.     

Social and clinical effects of a leisure program on adults with autism spectrum disorder

Using a pre-test, post-test experimental design, effects of a 1-year group leisure program were examined on 31 participants (20 male and 11 female), ages 27–38 (M = 32.05 at start of program), with an autism spectrum disorder (ASD) diagnosis randomly assigned to the experimental condition and a group of 20 adults with ASD randomly assigned to the control group (13 male and 7 female), ages 24–38 (M = 31.75, at the program start). The Facial Discrimination Battery (FDB)-Spanish version and the Vineland Adaptive Behavior Scales-Interview Edition Survey Form (VABS) were used to measure social–emotional cognition and the Color Trails Test (CTT) and the Tower of London-Drexel Edition were used to measure executive functioning cognitive. In consideration of the ecological perspective, the Dysexecutive Questionnaire (DEX) and the Frontal Systems Behavior Scale (FrSBe), were used. Mean scores for the experimental group were higher after completing the program than during baseline and compared to the control group across all social and emotional scales. Although statistical significance of results of the socio-emotional indicators and executive function was mixed, the VABS composite that focuses on social behavior of people with ASD was significant and demonstrated the largest difference between performance at baseline and performance after the 12-month intervention. Implications for future leisure service delivery are discussed.     

Critical limb ischemia: endovascular strategies for limb salvage

Critical limb ischemia (CLI) represents the most severe clinical manifestation of peripheral arterial disease, defined as the presence of chronic ischemic rest pain, ulcers, or gangrene attributable to objectively proven arterial occlusive disease. The dominant pathology underlying CLI is atherosclerosis, distributed at multiple levels along the length of the lower extremity and with a propensity for involvement of the tibial vessels in the leg and the small vessels of the foot. To achieve limb salvage in patients with CLI, revascularization of the affected limb is generally required. In contemporary practice, endovascular techniques are rapidly replacing surgical bypass as the first option for revascularization for CLI based on high technical success rates and low rates of procedure-related morbidity and mortality. This review will describe the clinical strategy of the authors who have adopted an endovascular-first approach to revascularization in treating patients with CLI and summarize the clinical outcomes of endovascular therapy in this population.     

Calcific left atrium:A rare consequence of endocarditis

Usually, cardiac calcifications are observed in aortic and mitral valves, atrio-ventricular plane, mitral annulus, coronary arteries, pericaridium(usually causing constrictive pericarditis) and cardiac masses. Calcifications of atrial walls are unusual findings that can be identified only using imaging with high spatial resolution, such as cardiac magnetic resonance and computed tomography. We report a case of a 43-year-old patient with no history of heart disease that underwent cardiac evaluation for mild dyspnoea. The echocardiogram showed a calcific aortic valve and a hyper-echogenic lesion located in atrio-ventricular plane. The patient was submitted to cardiac magnetic resonance and to computed tomography imaging to better characterize the localization of mass. The clinical features and location of calcified lesion suggest an infective aetiology causing an endocarditis involving the aortic valve, atrioventricular plane and left atrium. Although we haven't data to support a definite and clear diagnosis, the clinical features and location of the calcified lesion suggest an infective aetiology causing an endocarditis involving the aortic valve, atrio-ventricular plane and left atrium. The patient was followed for 12 mo both clinically and by electrocardiogram and echocardiography without worsening of clinical, electrocardiographic and echocardiographic data. Cardiac magnetic resonance imaging and computed tomography are ideal methods for identifying and following over time patients with calcific degeneration in the heart.     

Impact of a novel family-centered values clarification tool on adolescent sperm banking attempts at the time of a new cancer diagnosis

Purpose

Over half of males experience fertility impairment after childhood cancer therapy, which often causes psychosocial distress. Yet, fertility preservation (FP) remains underutilized. The goals of this study were to determine the feasibility and impact of implementing a family-centered FP values clarification tool on sperm banking attempts among adolescent males newly diagnosed with cancer, and identify key determinants of banking attempts.

Methods

A prospective pilot study was conducted among families of males (12–25 years old), prior to cancer therapy. Thirty-nine of 41 families agreed to participate (95%); 98 participants (32 adolescents, 37 mothers, 29 fathers) completed the Family-centered Adolescent Sperm banking values clarification Tool (FAST). Analyses assessed the impact of the FAST on banking attempts and examined associations between demographic/medical characteristics, FAST subscales (perceived threat, benefits, barriers), and banking attempts.

Results

Twenty-three (59%) adolescents attempted to bank, compared to 8 adolescents (33%) during baseline assessment (p=.04). Significant associations were identified between banking attempts and adolescents’ report of perceived threat (r_pb=.45, p=.01) and benefits (r_pb=.57, p=.01). Only mothers’ proxy reports of adolescent perceived threat (r_pb=.42, p=.01) and benefits (r_pb=.47, p=.003) were associated with banking attempts, while fathers’ self-reported perceived benefits (r_pb=.43, p=.03), self-reported barriers (r_pb=.49, p=.01), and proxy reports of adolescent perceived threat (r_pb=.38, p=.04) and benefits (r_pb=.59, p=.02) were associated with banking attempts.

Conclusion

Adolescent sperm banking attempt rates significantly increased after implementation of a family-centered FP values clarification tool prior to cancer treatment. Findings underscore the importance of targeting both adolescents and their parents, particularly fathers, in FP efforts.

     

Acute myocardial infarction with significant left main coronary artery stenosis, significant 3-vessel coronary artery disease and elevated troponin-I at admission

Exercise-induced ST-segment elevation in lead aVR accompanied by ST-segment elevation in lead V1 might be a specific finding of left main coronary artery (LMCA) stenosis. Lead aVR and lead v1 ST segment elevation has been reported, during an attack of chest pain, in patients with LMCA disease with ST segment depression in leads V3, V4 and V5 (with maximal depression in V4). ST-segment elevation in lead aVR in patients with angina at rest can be related to transmural ischemia of the basal part of the interventricular septum, frequently due to LMCA or multivessel coronary disease too. 3-vessel coronary artery disease (CAD) and LMCA disease show a frequent combination of leads with abnormal ST segments during chest pain with ST-segment depression in leads I II V4-V6, and ST-segment elevation in lead aVR. When ST-segment status in lead aVR combines with troponin T, ST-segment elevation in lead aVR and positive troponin T on admission are useful predictors of LMCA or 3-vessel CAD. We present a case of acute myocardial infarction with significant left main coronary artery stenosis, significant 3-vessel coronary artery disease and elevated troponin I at admission in an 83-year-old Italian woman. Also this case focuses attention on the importance of the recognition of the patterns suspected for LMCA and/or 3-vessel coronary disease.