UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Language and Identity at School and at Home : Language Shift among Mennonites in Paraguay

This essay has investigated the question of an ongoing language shift from Plattdeutsch and German to Spanish among the Mennonites in Paraguay and the role of the school in this process. The aims of the study were to compare the use of languages among the Mennonites in Asuncion and in the Menno colony and to identify the importance that parents give to the languages and to compare this with a school leader perspective. The aim was also to identify factors that influence the language shift and identify the influence that the shift excerpts on Mennonite values and identity. The results are based on my own observations, interviews with Mennonite women and interviews with key informants who have insight into the school policy issues. The outcome may be used as a basis for educational and language planning. There is a need to consciously sit down and re-define the Mennonite identity and to make the community and the school aware of their responsibility in language maintenance.

Language and interaction in online asynchronous communication in university level English courses

Interaction involves people communicating and reacting to each other. This process is key to the study of discourse, but it is not easy to study systematically how interaction takes place in a specific communicative event, or how it is typically performed over a series of repeated communicative events. However, with a written record of the interaction, it becomes possible to study the process in some detail. This thesis investigates interaction through asynchronous written discussion forums in a computer-mediated learning environment. In particular, this study investigates pragmatic aspects of the communicative event which the asynchronous online discussions comprise. The first case study examines response patterns to messages by looking at the content of initial messages and responses, in order to determine the extent to which characteristics of the messages themselves or other situational factors affect the interaction. The second study examines in what ways participants use a range of discourse devices, including formulaic politeness, humour and supportive feedback as community building strategies in the interaction. The third study investigates the role of the subject line of messages in the interaction, for example by examining how participants choose different types of subject lines for different types of messages. The fourth study examines to what extent features serving a deictic function are drawn on in the interaction and then compares the findings to both oral conversation and formal academic discourse. The overall findings show a complex communicative situation shaped by the medium itself, type of activity, the academic discipline and topic of discussion and by the social and cultural aspects of tertiary education in an online learning environment. In addition, the findings may also provide evidence of learning.  

LiLEDDA – a six step forum-based netnographic research method for nursing and caring sciences

Internet research methods in nursing science are less developed than in other sciences. We choose to present an approach to conducting nursing research on an internet-based forum. This paper presents LiLEDDA, a six-step forum-based netnographic research method for nursing science. The steps consist of: 1. Literature review and identification of the research question(s); 2. Locating the field(s) online; 3. Ethical considerations; 4. Data gathering; 5. Data analysis and interpretation; and 6. Abstractions and trustworthiness. Traditional research approaches are limiting when studying non-normative and non-mainstream life-worlds and their cultures. We argue that it is timely to develop more up-to-date research methods and study designs applicable to nursing science that reflect social developments and human living conditions that tend to be increasingly online-based.

English as a Second Language and Children’s literature : An empirical study on Swedish elementary school teachers’ methods and attitudes towards the use of children’s literature in the English classroom

Previous research has shown multiple benefits and challenges with the incorporation of children’s literature in the English as a Second language (ESL) classroom. In addition, the use of children’s literature in the lower elementary English classroom is recommended by the Swedish National Agency for Education. Consequently, the current study explores how teachers in Swedish elementary school teach ESL through children’s literature. This empirical study involves English teachers from seven schools in a small municipality in Sweden. The data has been collected through an Internet survey. The study also connects the results to previous international research, comparing Swedish and international research. The results suggest that even though there are many benefits of using children’s literature in the ESL classroom, the respondents seldom use these authentic texts, due to limited time and a narrow supply of literature, among other factors. However, despite these challenges, all of the teachers claim to use children’s literature by reading aloud in the classroom. Based on the results, further research exploring pupils’ thoughts in contrast to teachers would be beneficial. In addition, the majority of the participants expressed that they wanted more information on how to use children’s literature. Therefore, additional research relating to beneficial methods of teaching English through children’s literature, especially in Sweden, is recommended.

A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.

Secreção na orelha média em lactentes ocorrência, recorrência e aspectos relacionados

Objective: The present study aimed at evaluating the occurrence and recurrence of middle ear effusion and possible associated factors in the first two years of life of 190 newborns and infants, participants in the interdisciplinary prevention, detection, and intervention program at the Clínica de Educação para Saúde of Universidade do Sagrado Coração. Methods: Newborns and infants were monthly submitted to anamneses, otoscopy, behavioral hearing assessment using sound instruments and pure tones (pediatric audiometry) and tympanometry. Results: The results revealed that 68.4% of infants presented one or more episodes of middle ear effusion during their two first years, with more recurrence among males. Peak occurrence was between four and 12 months of age and, the earlier the first episode, the higher the probability of recurrence. Greatest incidence was during May and August. It was found that, of the variables investigated, the period of exclusive breastfeeding actuated as a protector factor. With respect of risk factors, it was observed that passive smoking, gastro-esophageal reflux and respiratory allergy were related with the recurrences of effusion. Conclusion: Findings revealed the importance of periodic auditory follow-up for infants during their first two years of life, considered to be the critical period of auditory system maturation, during which sensory deprivation can be responsible for damage to the development of speech, language and other auditory abilities. © 2007 Sociedad Chilena de Pediatría.

Linguagem poética e crescimento urbano-industrial / Poetical language and urban-industrial growth

O impacto do crescimento urbano-industrial sobre a lírica moderna é abordado sob o ângulo das dissonâncias ocorridas entre as representações temáticas e os procedimentos expressivos. Assim se confrontam as “respostas” dos poetas europeus à Revolução Industrial e o surgimento das grandes cidades com as dos modernistas brasileiros de 22 face à industrialização de São Paulo. Nestes, ao contrário dos primeiros, os conflitos instauram-se entre a celebração programática da vida moderna e, num primeiro momento, a impossibilidade de adequação de suas formas de expressão ao registro dessa modernidade. Dessa forma se explicam os desequilíbrios temático-expressivos existentes em Paulicéia Desvairada, bem como as adequações conseguidas por obras posteriores. The impact of urban-industrial growth on modern lyrics is approached from the angle of the dissonances which occurred between the thematic representations and the expressive procedures. Thus, the European poets’ responses to the Industrial Revolution and the emergence of the large cities are confronted with those of the 1922 Brazilian Modernists in relation to the industrialization of São Paulo. In the latter, contrary to what happened with ther former ones, the conflicts take place between the programmatic celebration of modern life and, at first, the impossibility of adequating their form of expressions to the record of said modernity. Thus the thematic-expressive disequilibrium in Paulicéia Desvairada, as well as de adequations obtained in later works are explained.

Association between interleukin-6 polymorphism in the-174 G/C region and hearing loss in the elderly with a history of occupational noise exposure

Introduction: The biological processes involved in noise-induced hearing loss (NIHL) are still unclear. The involvement of inflammation in this condition has been suggested.Objective: To investigate the association between interleukin - 6 (IL-6) polymorphism and susceptibility to NIHL.Methods: This was a cross-sectional study with a sample of 191 independent elderly individuals aged >60 years of age. Information on exposure to occupational noise was obtained by interviews. Audiological evaluation was performed using pure tone audiometry and genotyped through PCR by restriction fragment length polymorphism - PCR-RFLP. Data were analyzed using the chi-square test and the odds ratio (OR), with the significance level set at 5%.Results: Among elderly with hearing loss (78.0%), 18.8% had a history of exposure to occupational noise. There was a statistically significant association between the genotype frequencies of the IL-6 - 174 and NIHL. The elderly with the CC genotype were less likely to have hearing loss due to occupational noise exposure when compared to those carrying the GG genotype (OR = 0.0124; 95% CI 0.0023-0.0671; p<0.001).Conclusion: This study suggests there is an association of polymorphisms in the IL-6 gene at position - G174C with susceptibility to noise-induced hearing loss. (C) 2014 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Department of Veterinary and Biomedical Sciences: 2000 Annual Report

Foreword, 2000 John A . Schmitz. Professor and Department Head Veterinary and Biomedical Sciences Personnel Faculty Profiles Teaching program Research program Extension Program Nebraska Veterinary and Diagnostic Laboratory Systems Grants and Contracts Funded or Active in 2000 Patents by VBMS Faculty in 2000 Publications by VBMS Faculty in 2000 Presentations by VBMS Faculty in 2000 Articles Regarding the Department in 2000 Selected Committees, Editorial and Other Appointments of VBMS Faculty Departmental Budget Summaries Nebraska Agricultural Statistics 1999