A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. Absent sacrum is a frequent finding in patients with 7q terminal deletions; in fact, genes involved in the sacral agenesis are localized in 7q36. However, this anomaly was not described previously in patients with a ring chromosome 7. High resolution G-banding chromosome and fluorescence in situ hybridization (FISH) demonstrated that our patient lost this region during ring formation.
This article conceptualizes resilience, a capacity present in all people that can be activated to face and overcome adversity. Based on a systematic review of the literature, the different lines by which research on this subject has been developed to the present moment, when it is interpreted from neuroscience, are identified. From the first descriptions of risk and protective factors, the concept has moved through the consideration of resilience as a process that can be carried out by anyone and not as an intrinsic characteristic of exceptional people, to the study of the will to not let oneself be discouraged and the personal commitment to overcome. Next, the keys to promote this capacity in educational centers are analyzed. There are two main focuses of intervention: the relationship that the teacher can establish with students and the pedagogical strategies and resources that can be used. From the purpose of the integral formation of people and in an inclusive framework, educational centers have the challenge and responsibility to promote resilient processes in all students, especially in those who experience more barriers to learning and participation due to personal circumstances and adversities. In this way, educational centers are encouraged to be protective environments where all students feel safe and can empower themselves and unfold their potential. The review has been conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol, and the bibliographic search has been performed in the Dialnet Plus, Web of Science (WoS) and Scopus databases.
Changes in NO availability and the concomitance of oxidative stress in the aqueous humour of the POAG patients may be useful markers for identifying those at risk of glaucoma progression and visual loss.
Early intervention is developed following different types of service organization, which in turn require different professional and family roles. The aim of this study was to compare the perceived satisfaction and family quality of life amongst families receiving early intervention developed at centers in comparison to those receiving the routines-based early intervention in families’ homes, that is a family centered intervention in ecological environments. Under a transformative paradigm, a mixed methods design was used, using the Consumer Report Effectiveness Scale (CRES-4) and the Beach Center Family Quality of Life Scale (FQOLS) and two focus groups as data collection instruments. The sample comprised 166 parents in the quantitative phase and 16 parents in the qualitative phase. Results showed that families receiving routines-based early intervention had greater satisfaction with the service although both groups showed similar scores for family quality of life in most of the analyzed domains. Three dimensions were identified throughout the qualitative phase: problem solving, professional team and service organization. Both the models analyzed have an impact on family quality of life and parents are in general satisfied. Strengths and weaknesses were found related to the problem-solving process, the role of the professional team, family empowerment and the service’s organization. The areas requiring further development are the effective training of professionals focused on family practices, the exchange of information with the family and a more participatory organization that takes parent’s perspectives into consideration. The value given to a combined model is another aspect highlighted in this study, as well as the need for a more agile assessment period to avoid unnecessary delays.
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