A review of trisomy X (47,XXX)

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a psychological evaluation with an emphasis on identifying and developing an intervention plan for problems in cognitive/academic skills, language, and/or social-emotional development. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment

Características del liderazgo pedagógico del directivo docente de la I.E. de Jesús del municipio de Concordia

Esta investigación abordó el liderazgo pedagógico, específicamente el liderazgo directivo, su papel dentro del proceso pedagógico de la institución educativa está justificado por la relevancia que tiene en la gestión curricular, entre otras funciones, pues permite que las instituciones educativas - I.E marchen adecuadamente y alcancen mayores logros para todos los estudiantes. El objetivo consistió en identificar las características del liderazgo pedagógico del directivo docente de la I.E de Jesús del municipio de Concordia. Para esto se consideró una investigación enmarcada dentro del enfoque cualitativo de tipo descriptivo, el método fue estudio de caso. Los instrumentos que se utilizaron fueron, la entrevista, el diario de campo y el grupo focal. Con base en los resultados obtenidos en las entrevistas se destacan aspectos importantes de la comunicación y el liderazgo, vinculados a la gestión administrativa de la I.E. La investigación muestra la importancia que tiene el liderazgo pedagógico del directivo docente como elemento clave en el desarrollo y funcionamiento pedagógico-curricular de la I.E.This research addressed pedagogical leadership, such as one that focuses on the directive role, specifically on his role in the educational process on the educative institution; the relevance it's justified for this process for function properly on the institutions to and achieve greater achievements for all students. The objective was to identify the pedagogical leadership from the educative director of the Educative Institution of Jesus from the Concordia municipality. For this, was considered an investigation framed within the qualitative approach of descriptive type, the method was a study case. The instruments used were interview, field diaries and focus group. Based on the interview results obtained, important aspects of communication and leadership were highlighted, linked to the development processes on the educative institution. The research shows the importance on a pedagogical leadership of the teaching director as a key element within the institution.Magíster en EducaciónMaestrí

Design review in the UK: its role in town planning decision making

Regional Design Review (Design Review) panels are becoming established nationwide in the United Kingdom as a means to help raise design quality of new development. The panels were initiated by the Commission for Architecture and the Built Environment (CABE), and the weight given to the Design Review panel comments in planning decision making appears set to increase. No statute, however, or even national policy, explains the role of the panels or their place in relation to other design guidance available to Local Planning Authorities and developers. This means that users may have difficulty using Design Review panel advice, accepting its legitimacy or according it appropriate weight in planning decision making. Recent research by CABE (2009) indicates that Design Review panels provide a useful input to the planning decision-making process, but this same research demonstrates that there are areas of concern, especially among planners. The views of the Regional Design Review panel members throughout the United Kingdom (mostly independent architects and planners), as well as user (local authority planner and developer) perceptions on possible improvements, are examined in this research through semi-structured interviews. Possible approaches to clarifying the place of Design Review within urban design guidance governance, as well as ways in which Design Review panels might improve communication with users, are among the outcomes from this research

Urban nuclei and the geometry of streets : the 'emergent neighborhoods' model

A controversy remains among planners and urban designers about the proper location of the non-residential core (nucleus) of a neighborhood in relation to thoroughfares. One school of thought suggests that the nucleus should be located along the busiest thoroughfares; a second school holds that it must be some distance away from them - which, because of their disruptiveness, should form the edge of the neighborhood; and a third school proposes that it should be somewhere between the two as an 'eccentric nucleus'. The three schools may be overlooking the underlying variables that govern this problem under different conditions, and so we propose a model for establishing the best location and distribution of urban nuclei as these conditions vary. This requires firstly, a redefinition of the 'neighborhood' as distinguished from a 'pedestrian shed'. We argue that a 'neighborhood' can either emerge within a 'sanctuary area' between thoroughfares, or span across both 'sanctuary areas' and thoroughfares, if the latter are properly designed; a 'pedestrian shed', by contrast, can overlap with neighborhoods and with other pedestrian sheds. We propose a '400 meter rule', a surprisingly small maximum spacing of main thoroughfares that empirical observation shows that traditional, pedestrian-governed urban fabric has always tended to obey, for reasons that are likely to have to do with the self-organizing logic of pedestrian movement and social activity. In so doing, we advance a more fine-grained, permeable, potentially lower-carbon model and illustrate its advantages with several historic and modern examples