35 research outputs found
Aid conditionalities, international Good Manufacturing Practice standards and local production rights: a case study of local production in Nepal
© 2015 Brhlikova et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License
(http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium,
provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://
creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.This work was supported by the Economic and Social Research Council and
the Department for International Development [RES-167-25-0110] through
the collaborative research project
Tracing Pharmaceuticals in South Asia
(2006
â
2009). In addition to the authors of this paper, the project team
included: Soumita Basu, Gitanjali Priti Bhatia, Erin Court, Abhijit Das, Stefan
Ecks, Patricia Jeffery, Roger Jeffery, Rachel Manners, and Liz Richardson.
Martin Chautari (Kathmandu) and the Centre for Health and Social Justice
(New Delhi) provided resources drawn upon in writing this paper but are
not responsible for the views expressed, nor are ESRC or DFID.
Ethical review was provided by the School of Social and Political Science at
the University of Edinburgh, and ethical approval in Nepal for the study
granted by the Nepal Health Research Council (NHRC)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Purpose: Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods: Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results: Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion: We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided.Anne Guimier ... Liza K. Phillips ... et al
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided
Access to medicines in Senegal : results of a sample survey
The survey was conducted in Senegal in April 2001 on a representative sample of providers and clients. Results show that access to medicines in Senegal was limited for three main reasons: (1) the supply of drugs was inadequate, and even critical drugs were often missing in health centres, and were somewhat less in pharmacies; (2) the health infrastructures appeared insufficient to cover the needs of the whole population, creating high opportunity costs; (3) the cost of the drugs prescribed was higher than the minimum price, sometimes exceeding the capacity of poorer people, although high cost was seldom reported as the main reason for not acquiring prescribed drugs. improving access to medicine is a priority to help reduce health inequalities in developing countries
Orientation and temperature dependence of some mechanical properties of the single-crystal nickel-base superalloy René N4: Part I. Tensile behavior
Decorrelated movements of Shockley partial dislocations in the Îł-phase channels of nickel-based superalloys at intermediate temperature
Greek contributions to tomb paintings in Etruria and Southern Italy: Colours, Painting techniques, Workshops and Iconography
This contributions is dealing with the manifold Greek influences in the paintings - specially tomb paintings - in Etruria and Southern Italy from the 6th to the 3rd cent. B.C