scholarly journals Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

2014 ◽  
Vol 1 (1) ◽  
Author(s):  
Artem V Artemov ◽  
Eugenia S Boulygina ◽  
Svetlana V Tsygankova ◽  
Artem V Nedoluzhko ◽  
Nikolay N Chekanov ◽  
...  
Keyword(s):  
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.


1995 ◽  
Vol 2 (3) ◽  
pp. 193-195 ◽  
Author(s):  
Annibale Raglio ◽  
Maurizio Parea ◽  
Vailati Francesca ◽  
Antonio Goglio
Keyword(s):  

Author(s):  
Khyber Shinwari ◽  
Mikhail Bolkov ◽  
Elena Vlasova ◽  
Svetlana Deryabina ◽  
Dmitriy Chermokhin ◽  
...  
Keyword(s):  

2017 ◽  
Vol 12 (1) ◽  
pp. 36-48 ◽  
Author(s):  
Sheila Riddell ◽  
Elisabet Weedon

Since the re-establishment of the Scottish Parliament in 1999, successive administrations have reaffirmed their commitment to social justice. However, despite high-level equality policies, social-class inequality is a major feature of Scottish society, affecting all social policy domains, including education. In this article, we provide a brief overview of the development of support for children with learning difficulties and disabilities within the context of Scottish comprehensive schooling. We then consider the way in which ideas of social justice are reflected in education for learners with additional support needs, whose numbers have expanded over recent years and who are particularly likely to live in the most deprived parts of Scotland. Using family case studies, we explore the experiences of families from different social backgrounds, whose children have been identified as having additional support needs. The data suggest that children living in deprived areas experience cumulative disadvantage, attracting stigmatising labels without the benefit of extra resources necessary to improve educational outcomes. By way of contrast, those from more advantaged areas are generally more successful in avoiding stigmatising labels while ensuring that facilitating resources are in place. Findings are discussed within Fraser’s three-dimensional framework of social justice, encompassing distribution, recognition and representation.


2019 ◽  
Author(s):  
LIZETH CHAPARRO DEL PORTILLO ◽  
JÚLIA YONESHIGUE LARANJA DE OLIVEIRA ◽  
HANY KELLY ARAUJO CRUZ ◽  
BRUNO BORDALO CORRÊA ◽  
VIVIAN MABEL ORSI DORADO ◽  
...  

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