34 research outputs found
Gender differences in the association between cognitive social capital, self-rated health, and depressive symptoms: a comparative analysis of Sweden and Ukraine
Protein quality control: the who’s who, the where’s and therapeutic escapes
In cells the quality of newly synthesized proteins is monitored in regard to proper folding and correct assembly in the early secretory pathway, the cytosol and the nucleoplasm. Proteins recognized as non-native in the ER will be removed and degraded by a process termed ERAD. ERAD of aberrant proteins is accompanied by various changes of cellular organelles and results in protein folding diseases. This review focuses on how the immunocytochemical labeling and electron microscopic analyses have helped to disclose the in situ subcellular distribution pattern of some of the key machinery proteins of the cellular protein quality control, the organelle changes due to the presence of misfolded proteins, and the efficiency of synthetic chaperones to rescue disease-causing trafficking defects of aberrant proteins
A checklist for health research priority setting: nine common themes of good practice
Health research priority setting processes assist researchers and policymakers in effectively targeting research that has the greatest potential public health benefit. Many different approaches to health research prioritization exist, but there is no agreement on what might constitute best practice. Moreover, because of the many different contexts for which priorities can be set, attempting to produce one best practice is in fact not appropriate, as the optimal approach varies per exercise. Therefore, following a literature review and an analysis of health research priority setting exercises that were organized or coordinated by the World Health Organization since 2005, we propose a checklist for health research priority setting that allows for informed choices on different approaches and outlines nine common themes of good practice. It is intended to provide generic assistance for planning health research prioritization processes. The checklist explains what needs to be clarified in order to establish the context for which priorities are set; it reviews available approaches to health research priority setting; it offers discussions on stakeholder participation and information gathering; it sets out options for use of criteria and different methods for deciding upon priorities; and it emphasizes the importance of well-planned implementation, evaluation and transparency
Deconstructing Haig-Simons Income and Reconstructing It as Objective Ability-to-Pay Income
X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.WoSScopu
Importância da avaliação genĂ©tico-clĂnica na hidrocefalia Importance of the clinical genetics evaluation on hydrocephalus
Os objetivos deste estudo foram caracterizar a presença de possĂveis quadros de etiologia genĂ©tica entre portadores de hidrocefalia congĂŞnita de etiologia nĂŁo anteriormente esclarecida e confirmar aqueles com etiologia identificada previamente. A casuĂstica compĂ´s-se de 16 pacientes portadores de hidrocefalia congĂŞnita. O protocolo de investigação incluiu anamnese, investigação de histĂłria familial, exame clĂnico-dismorfolĂłgico, tomografia computadorizada ou ressonância magnĂ©tica de sistema nervoso central, radiografia vertebral simples, cariĂłtipo e estudo dismorfolĂłgico. Para análise dos resultados, a casuĂstica foi dividida em dois grupos. O Grupo I (3M:6F) caracterizado por indivĂduos com hidrocefalia e sinais clĂnicos inespecĂficos; o Grupo II (7M), em que os indivĂduos apresentavam hidrocefalia congĂŞnita e sinais sugestivos do espectro da doença L1. Orientação genĂ©tica especĂfica foi possĂvel em 11 casos. Os resultados demonstram a heterogeneidade etiolĂłgica envolvida na hidrocefalia, evidenciando a necessidade de avaliação clĂnico-dismorfolĂłgica como instrumento complementar na investigação dessa condição clĂnica.<br>The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F) was composed by hydrocephalus associated with unspecific signs. Group II (7 males) had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital hydrocephalus and reinforce the importance of dysmphology evaluation as an important complementary investigation