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Cardiomyopathies throughout Noonan malady and yet another RASopathies.
Objective There is no information on disparities of patients with psychogenic nonepileptic seizures (PNES) and their caregivers. The objective of this exploratory study is to compare patients with PNES and caregivers with low socioeconomic status (SES) with those of high SES for disparities in healthcare use, seizures, medication adverse effects, psychosocial impact, and knowledge about epilepsy. Methods Patients with PNES and caregivers completed surveys about the aforementioned outcomes during their Epilepsy Monitoring Unit (EMU) admission. Associations were evaluated using SES as a binary independent variable and the patient- and caregiver-related outcomes as dependent variables. Results Forty-three patients and 28 caregivers were recruited. The majority of patients were on average 36 years old, single women, unemployed, with some college education. The majority had PNES for 8 years averaging 20 seizures per month and were maintained on ≥2 antiepileptic drugs (AEDs) prior to their EMU admission. Most caregivers were first-degree relatives with a mean age of 43 years, married employed women of higher educational attainment, typically cohabitating with the patients. Low SES patients showed poorer knowledge about epilepsy (p less then 0.0001) and higher anxiety levels (p = 0.03). Conversely, high SES patients demonstrated poorer social functioning (p = 0.04). High SES caregivers showed higher caregiving burden (p = 0.01). Conclusion There are noteworthy disparities in patients with PNES of different SES and their caregivers. Identification of those disparities is a critical step in the creation of appropriate interventions to address them.Introduction In early breast cancer (EBC), a single dose of intraoperative radiotherapy (IORT) might be an option to standard whole breast radiotherapy (WBRT). However, there is no consensus about its use and clinical results. Aim to analyse the morbidity and oncological outcomes of IORT as monotherapy in EBC. Methods A single centre observational analytic study was performed. A prospective IORT cohort (2015-17) and a retrospective WBRT cohort (2012-17) were selected following the same criteria ≥ 45 y.o., invasive ductal carcinoma or variants, radiological tumour size ≤ 3 cm, positive oestrogenic receptors, negative HER2, cN0; exclusion criteria lymphovascular invasion, multicentricity/multifocality, BRCA mutation and neoadjuvant therapy. Clinical, histological, surgical, oncological characteristics and complications were collected. Results A total of 425 cases were selected 217 in IORT cohort and 208 in WBRT cohort. Average age in IORT and WBRT groups was 67±9.5 and 64.8 ± 9.9 y.o. respectively (p = 0.01). ASA 3 risk score patients were 17.7% in IORT and 24 cases in WBRT (p = 0.027). There were no differences in histological results or tumoral stage. Average follow up was 24.4 ± 8 months in IORT and 50.5 ± 18 months in WBRT (p less then 0.001). No differences were detected in local recurrence, metastases or mortality. Complications that required reintervention or hospitalization were similar in both groups. A total of 3 and 14 cases developed early severe dermatitis in IORT and WBRT groups respectively (p = 0.01). Conclusion IORT as monotherapy in selected patients with EBC stands for an alternative option versus WBRT. It seems especially useful in advanced-age patients with severe comorbidities. IORT associates lesser early severe dermatitis.Introduction Acute appendicitis (AA) is the most common abdominal surgical emergency. No specific studies have been found that evaluate the impact of the coronavirus 2 (SARS-Cov-2) pandemic on AA and its surgical management. An analysis was made on the influence of this new pathology on the clinical course of AA. Material and methods Retrospective observational study was conducted on patients operated on for AA from January to April 2020. They were classified according to the time of the appendectomy, before the declaration of the state of alarm (pre-COVID-19), and after its declaration (post-COVID-19) in Spain, one the most affected countries in the world. An evaluation was made of demographic variables, duration of symptoms, type of appendicitis, surgical time, hospital stay, and postoperative complications. Results The study included 66 patients (41 pre-COVID-19; 25 post-COVID-19) with mean age of 10.7 ± 3 and 9.3 ± 3.1; P = .073, respectively. Fever was found in a higher number of post-COVID-19 patients (52 vs. 19.5%; P = 0.013), as well as a higher CRP (72.7 ± 96.2 vs. 31.3 ± 36.2 mg/dL; P = 0.042). This group presented with a higher proportion of complicated appendicitis when compared to pre-COVID-19 (32 vs. 7.3%; P = 0.015). The mean hospital stay was longer in the post-COVID-19 group (5.6 ± 5.9 vs. Selleckchem CAY10603 3.2 ± 4.3 days; P = 0.041). No differences were found in the time of onset of symptoms or surgical time. Conclusions The SARS-Cov-2 pandemic influenced the time of diagnosis of appendicitis, as well as its course, and mean hospital stay. Peritonitis was more frequently seen. As a result of the significant circumstances, delaying diagnosis and treatment of AA during SARS-Cov-2 pandemic, inappropriate management of this common surgical disorder has been noticed.Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies». Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches.Inflatable penile prosthesis was developed in 1973 as a definitive treatment for erectile dysfunction. Since then these prosthetic devices underwent huge modifications, and scientific and technologic advances were accomplished, improving reliability, longevity and the surgical outcomes. Surgical implantation of a penile prosthesis may be considered in patients with erectile dysfunction who do not respond to pharmacotherapy or who prefer a permanent solution to their problem. According to the 2019 EAU Guidelines, regardless of the indication, prosthesis implantation has one of the highest satisfaction rates (92-100% in patients and 91-95% in partners) among the treatment options for erectile dysfunction based on appropriate consultation. The penoscrotal handling is the most common approach accounting for >80% of inflatable penile prosthesis placed worldwide. Most frequent complaints and dissatisfaction with inflatable penile prosthesis are related to technical issues or poor surgical outcomes such as the final length of the penis. There is an urgent need to improve the patient awareness in inflatable penile prosthesis in the preoperative arena, including the high expectation management, and an effort to select the proper patients for definitive treatment.Introduction Contradictory data have been reported on the incidence of stroke in patients with COVID-19 and the risk of SARS-CoV-2 infection among patients with history of stroke. Methods This study systematically reviews case series reporting stroke as a complication of COVID-19, and analyses the prognosis of patients with COVID-19 and history of stroke. The pathophysiological mechanisms of stroke in patients with COVID-19 are also reviewed. Conclusions History of stroke increases the risk of death due to COVID-19 by 3 times. Stroke currently seems not to be one of the main complications of COVID-19.Over the course of 2018-2019, the Spanish Society of Internal Medicine developed the project "The Hospital of the Future", which seeks to transfer to the context of the Spanish healthcare system the considerations addressed by the UK Royal College of Physicians on the organization of future hospital care, from the accumulated knowledge of the Spanish National Health System. The project's participants included numerous scientific/medical societies, professional entities of the health sector and patient associations. This aim of this article is to highlight within 10 points the predictions from this project that we consider the most relevant, dedicating the last point to the challenges for internal medicine that can be surmised from these proposals.Objective Although breech presentations occur in 3-5% of term deliveries, the mode of delivery still remains a topic of debate. Hence, this study aimed to analyze the worldwide research output on breech presentation. All relevant publications issued in the Web of Science from 1900 to 2014 were assessed by an objective, standardized bibliometric procedure. Study design In this retrospective, descriptive study, we used the computerized NewQIS platform, to identify publications by a specific search term and to analyze them regarding quantitative parameters (e.g., countries of origin, journals) as well as qualitative characteristics (e.g., citation rate, country-specific H-index). In addition to geographical aspects, chronological developments and collaboration networks were investigated. In order to visualize the results, anamorphic maps were generated by the innovative "density equalizing map projections"(DEMP) technology. Results A total of 1,438 original articles, reviews, "Letters" and "Abstracts" on breech presentation were identified. 86% of this work was written in English. The highest number and the most cited publications came from the US and Canada as well as Western European countries. Exceptions were Israel and South Africa that appeared among the leading countries. The collaboration network included 26 countries, dominated by the US and the UK. We also present a table of the 14 most cited publications in the world. Summary This study underlines that the mere total of only 1,438 publications on breech do not do justice to this relevant and controversially discussed topic. The global research output was dominated by the industrialized world. Developing and emerging countries are largely excluded from research activities. To minimize this imbalance and to foster scientific collaborations, future research on this topic needs to be planned and funded according to these shortcomings.Polymers in nanofiber format promise a great potential as sorbents for extraction techniques. This tutorial provides an overview of direct coupling of extraction techniques based on nanofibers to liquid chromatography. Arrangements of the fibers in conventional extraction cartridges are demonstrated. Selection of suitable nanomaterials according to their surface density, wettability, and mechanical stability is proposed and personal experience of the authors commented. Optimization of on-line extraction procedure, practical aspects, technical problems, pitfalls, pros, and cons of using nanofibers for extraction in high-pressure chromatography systems are also discussed and several examples presented. The following text comprehensively summarizes numerous reports that dealt with the topic. Future perspectives of advanced nanofiber materials and approaches that concern polymer fibers modifications are also included.
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