SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life

2022 ◽  
Vol 127 ◽  
pp. 108500
Author(s):  
Tommaso Lo Barco ◽  
Luciana De Gaetano ◽  
Elisabetta Santangelo ◽  
Tonino Bravi ◽  
Jacopo Proietti ◽  
...  
2016 ◽  
Vol 13 (1) ◽  
pp. 159-168
Author(s):  
Bayram Unal

This study aims at understanding how the perceptions about migrants have been created and transferred into daily life as a stigmatization by means of public perception, media and state law implementations.  The focus would be briefly what kind of consequences these perceptions and stigmatization might lead. First section will examine the background of migration to Turkey briefly and make a summary of migration towards Turkey by 90s. Second section will briefly evaluate the preferential legal framework, which constitutes the base for official discourse differentiating the migrants and implementations of security forces that can be described as discriminatory. The third section deals with the impact of perceptions influential in both formation and reproduction of inclusive and exclusive practices towards migrant women. Additionally, impact of public perception in classifying the migrants and migratory processes would be dealt in this section.


Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 867-P
Author(s):  
JEOFFREY BISPHAM ◽  
ALLYSON HUGHES ◽  
MAGALY PEREZ-NIEVES ◽  
LUDI FAN ◽  
ALICIA MCAULIFFE-FOGARTY
Keyword(s):  

2020 ◽  
Author(s):  
Teresa O'Rourke ◽  
Carsten Vogel ◽  
Dennis John ◽  
Rüdiger Pryss ◽  
Johannes Schobel ◽  
...  

BACKGROUND It is necessary to cope with situations in daily life to prevent stress-related health consequences. However, coping strategies might differ in their impact on dealing with stressful situations in daily life. Moreover, the effect of coping strategies on situational coping might differ between women and men. OBJECTIVE The aim of this study was to investigate the impact of coping strategies on situational coping in everyday life situations and to investigate gender differences. METHODS An ecological momentary assessment study with the mobile health app TrackYourStress (TYS) was conducted with 113 participants. Coping strategies were measured at baseline with the coping scales Positive Thinking, Active Stress Coping, Social Support, Support in Faith, and Alcohol and Cigarette Consumption of the Stress and Coping Inventory (SCI). Situational coping was assessed by the question “How well can you cope with your momentary stress-level” (slider 0-100) in daily life over four weeks. Multilevel models were conducted to test the effects of the coping strategies on situational coping. Additionally, gender differences were evaluated. RESULTS Positive Thinking (P=.03) and Active Stress Coping (P=.04) had significant positive impacts on situational coping in the total sample. For women, only Social Support had a significant positive effect on situational coping (P=.046). For men, only Active Stress Coping had a significant positive effect on situational coping (P=.001). Women had higher scores on the SCI scale Social Support than men (P=.007). CONCLUSIONS These results suggest that different coping strategies could be more effective in daily life for women than for men, which should be considered in the development of interventions aimed at reducing stress consequences through coping. Interventions taking gender into consideration might lead to better coping-outcomes than generalized interventions.


Author(s):  
Gianluca Bardaro ◽  
Alessio Antonini ◽  
Enrico Motta

AbstractOver the last two decades, several deployments of robots for in-house assistance of older adults have been trialled. However, these solutions are mostly prototypes and remain unused in real-life scenarios. In this work, we review the historical and current landscape of the field, to try and understand why robots have yet to succeed as personal assistants in daily life. Our analysis focuses on two complementary aspects: the capabilities of the physical platform and the logic of the deployment. The former analysis shows regularities in hardware configurations and functionalities, leading to the definition of a set of six application-level capabilities (exploration, identification, remote control, communication, manipulation, and digital situatedness). The latter focuses on the impact of robots on the daily life of users and categorises the deployment of robots for healthcare interventions using three types of services: support, mitigation, and response. Our investigation reveals that the value of healthcare interventions is limited by a stagnation of functionalities and a disconnection between the robotic platform and the design of the intervention. To address this issue, we propose a novel co-design toolkit, which uses an ecological framework for robot interventions in the healthcare domain. Our approach connects robot capabilities with known geriatric factors, to create a holistic view encompassing both the physical platform and the logic of the deployment. As a case study-based validation, we discuss the use of the toolkit in the pre-design of the robotic platform for an pilot intervention, part of the EU large-scale pilot of the EU H2020 GATEKEEPER project.


Author(s):  
Stefano Tozza ◽  
Dario Bruzzese ◽  
Daniele Severi ◽  
Emanuele Spina ◽  
Rosa Iodice ◽  
...  

Abstract Introduction In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception of disturbances that mostly impact on daily life in CMT1A patients and its difference on the basis of age, gender, disability, and quality of life. Methods Forty-one CMT1A patients underwent neurological assessment focused on establishing clinical disability through the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and quality of life through the Short Form-36 (SF-36) questionnaire. We identified from CMT disturbances 5 categories [weakness in lower limbs (WLL), weakness in upper limbs (WUL), skeletal deformities (SD), sensory symptoms (SS), balance (B)] and patients classified the categories from the highest to the lowest impact on daily life (1: highest; 5: lowest). Ranking of the 5 categories, in the overall sample and in the different subgroups (dividing by gender, median of age and disease duration, CMTNS, domains of SF-36), was obtained and differences among subgroups were assessed using a bootstrap approach. Results Rank analysis showed that WLL was the most important disturbance on daily life whereas WUL had the lowest impact. In the older CMT1A group, the most important disturbance on daily life was B that was also the most relevant disturbance in patients with a greater disability. SD influenced daily life in younger patients. SS had less impact on daily life, with the exception of patients with a milder disability. Discussion Our findings demonstrated that the perception of disturbances that mostly impact on CMT1A patients’ daily life changes over the lifetime and with degree of disability.


BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Rahel Kasteler ◽  
Christa Lichtensteiger ◽  
Christina Schindera ◽  
Marc Ansari ◽  
Claudia E. Kuehni ◽  
...  

Abstract Background Chest wall abnormalities are a poorly studied complication after treatment for childhood cancer. Chest wall abnormalities are not well-described in the literature, and little is known on the impact on daily life of survivors. Methods We investigated prevalence and risk factors of chest wall abnormalities in childhood cancer survivors in a nationwide, population-based cohort study (Swiss Childhood Cancer Survivor Study) with a questionnaire survey. We then interviewed a nested sample of survivors to validate types of chest wall abnormalities and understand their impact on the daily life of survivors. Results Forty-eight of 2382 (95%CI 2–3%) survivors reported a chest wall abnormality. Risk factors were older age at cancer diagnosis (16–20 years; OR 2.5, 95%CI 1.0–6.1), lymphoma (OR 3.8, 95%CI 1.2–11.4), and central nervous system tumors (OR 9.5, 95%CI 3.0–30.1) as underlying disease, and treatment with thoracic radiotherapy (OR 2.0, 95%CI 1.0–4.2), surgery to the chest (OR 4.5, 95%CI 1.8–11.5), or chemotherapy (OR 2.9, 95%CI 1.0–8.1). The nature of the chest wall abnormalities varied and included thoracic wall deformities (30%), deformations of the spine (5%) or both (55%), and scars (10%). Chest wall abnormalities affected daily life in two thirds (13/20) of those who reported these problems and necessitated medical attention for 15 (75%) survivors. Conclusion It is important that, during follow-up care, physicians pay attention to chest wall abnormalities, which are rare late effects of cancer treatment, but can considerably affect the well-being of cancer survivors.


2014 ◽  
Vol 12 (3) ◽  
pp. 141-146
Author(s):  
Ayaka Kawahara ◽  
Aya Kitamura ◽  
Masataka Kimura ◽  
Akina Ogawa ◽  
Yasuhiko Kawai

Author(s):  
Marcielli Scremin ◽  
Pâmela Rodrigues Almeida ◽  
Kayla Araújo Ximenes Aguiar Palma ◽  
Priscilla De Oliveira Reis Alencastro

Nos últimos tempos, vem acontecendo mudanças significativas no estilo de vida dos indivíduos, que refletem no processo de envelhecimento, trabalho, cotidiano e na aposentadoria. O processo de envelhecimento é multifatorial e acontece com todos os indivíduos e variam de acordo com os hábitos de vida de cada ser humano. O objetivo principal da pesquisa foi analisar os impactos da aposentadoria no cotidiano do servidor público federal. Desse modo, utilizou-se a abordagem qualitativa, sendo utilizado o questionário BOAS e uma entrevista semiestruturada. A partir desses instrumentos, realizou-se a análise e identificação de questões da aposentadoria que podem influenciar na ruptura do cotidiano. Sendo assim, foram identificadas três categorias pertinentes à pesquisa, são elas: planejamento da aposentadoria, impacto no cotidiano e ressignificação do cotidiano. A velhice vem cercada de mudanças e uma delas é a aposentadoria. Para podermos falar de aposentadoria é preciso que entendamos qual o significado do trabalho na vida dos indivíduos, que pode ser uma forma de pertencimento social e/ou fazer parte da construção da identidade social. O impacto no cotidiano em decorrência da ausência do trabalho acarretou em mudanças positivas e negativas, sendo importante salientar que o primeiro impacto percebido com a aposentadoria foi a ausência de uma rotina que antes era proporcionada pelo trabalho, cada indivíduo buscou alternativas a fim de se reestabelecer e se reconhecer em sua nova realidade que é a aposentadoria. Abstract  In recent times, there have been significant changes in the lifestyle of individuals, which reflect in the process of aging, work, daily life and retirement. The aging process is multifactorial and happens to all individuals, and they vary according to the life habits of each human being. The main objective of the research was to analyze the impacts of retirement on the daily routine of the federal public servant. Thus, the qualitative approach was used, using the BOAS questionnaire and a semi-structured interview. From these instruments, the analysis and identification of retirement issues was carried out, which can influence the rupture of daily life. Thus, three categories relevant to research were identified: retirement planning, impact on daily life and re-signification of daily life. Old age is surrounded by change and one of them is retirement. In order to talk about retirement, we need to understand the meaning of work in individuals' lives, which can be a form of social belonging and / or part of the construction of social identity. The impact on daily life due to absence of work led to positive and negative changes, and it is important to note that the first impact perceived with retirement was the absence of a routine that was previously provided by work, each individual sought alternatives in order to reestablish and to recognize in its new reality that it is retirement.  Keywords: Retirement; Aging; Work.


Author(s):  
Dong-Woo Lee ◽  
So-Young Choi ◽  
Jin-wook Kim ◽  
Tae-Geon Kwon ◽  
Sung-Tak Lee

Abstract Background This study aimed to analyze the impact of COVID-19 on oral and maxillofacial fracture in Daegu by comparing the demographic data in 2019 and 2020, retrospectively. We collected data from all patients having trauma who visited the emergency room for oral and maxillofacial fractures. Methods This retrospective study was based on chart review of patients who visited the emergency department of Kyungpook National University Hospital in Daegu, South Korea from January 1, 2019, to December 31, 2020. We conducted a comparative study for patients who presented with maxillofacial fractures with occlusal instability during pre-COVID-19 era (2019) and COVID-19 era (2000) with demographics and pattern of injuries. Results After the outbreak of COVID-19, the number of monthly oral and maxillofacial fractures, especially sports-related oral and maxillofacial fractures, decreased significantly. Also, the number of alcohol-related fractures increased significantly. In addition, as the number of monthly confirmed cases of COVID-19 increases, the incidence of fracture among these cases tends to decrease. Conclusions The COVID-19 pandemic has changed the daily life in Korea. Identifying the characteristics of patients having trauma can provide a good lead to understand this long-lasting infectious disease and prepare for future outbreaks.


Sign in / Sign up

Export Citation Format

Share Document