79 research outputs found
Epidemiology and health related quality of life in hypoparathyroidism in Norway.
OBJECTIVE: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health related quality of life (HRQoL) and treatment pattern of HP. METHODS: Patients with HP and 22q11 deletion syndrome (DiGeorge syndrome) were identified in electronic hospital registries. All identified patients were invited to participate in a survey. Among patients who responded, HRQoL was determined by Short Form 36 (SF-36) and Hospital Anxiety and Depression scale (HADS). Autoantibodies were measured and candidate genes (CaSR, AIRE, GATA3 and 22q11-deletion) were sequenced for classification of etiology. RESULTS: We identified 522 patients (511 alive) and estimated overall prevalence at 102 per million divided among post-surgical HP (64 per million), non-surgical HP (30 per million) and pseudo-HP (8 per million). Non-surgical HP comprised autosomal dominant hypocalcemia (21%), autoimmune polyendocrine syndrome type 1 (17%), DiGeorge/22q11 deletion syndrome (15%), idiopathic HP (44%), and others, 4%. Among the 283 respondents (median age 53 years (range 9-89), 75% females), seven formerly classified as idiopathic were reclassified after genetic and immunological analyses, whereas 26 (17% of non-surgical HP) remained idiopathic. Most were treated with vitamin D (94%) and calcium (70%), and 10 received parathyroid hormone. HP patients scored significantly worse than the normative population on SF-36 and HADS; patients with post-surgical scored worse than those with non-surgical HP and pseudo-HP, especially on physical health. CONCLUSIONS: We found higher prevalence of non-surgical HP in Norway than reported elsewhere. Genetic testing and autoimmunity screening of idiopathic HP identified a specific cause in 21%. Further research is necessary to unravel the causes of idiopathic HP and to improve the reduced HRQoL reported by HP patients
A longitudinal follow-up of autoimmune polyendocrine syndrome type 1
Source:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971337/Context:
Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined
by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insuffi-
ciency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse.
Objective:
To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and
autoimmune regulator (
AIRE)
mutations during extended follow-up (1996–2016).
Patients:
All known Norwegian patients with APS1.
Results:
Fifty-two patients from 34 families were identified. The majority presented with one of the major disease
components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent compo-
nents.Withage,mostpatientspresentedthreetofivediseasemanifestations,althoughsomehadmilderphenotypes
diagnosed in adulthood. Fifteen of the patients died during follow-up (median age at death, 34 years) or were
deceasedsiblingswithahighprobabilityofundisclosedAPS1.Allexceptthreehadinterferon-
)autoantibodies,and
allhadorgan-specificautoantibodies.Themostcommon
AIRE
mutationwasc.967_979del13,foundinhomozygosity
in 15 patients. A mild phenotype was associated with the splice mutation c.879
1G
A. Primary adrenocortical
insufficiency and type 1 diabetes were associated with protective human leucocyte antigen genotypes.
Conclusions:
Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and
enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-
)
and
AIRE
sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured
follow-up should be performed in a specialized center
Signaling pathway networks mined from human pituitary adenoma proteomics data
Abstract Background We obtained a series of pituitary adenoma proteomic expression data, including protein-mapping data (111 proteins), comparative proteomic data (56 differentially expressed proteins), and nitroproteomic data (17 nitroproteins). There is a pressing need to clarify the significant signaling pathway networks that derive from those proteins in order to clarify and to better understand the molecular basis of pituitary adenoma pathogenesis and to discover biomarkers. Here, we describe the significant signaling pathway networks that were mined from human pituitary adenoma proteomic data with the Ingenuity pathway analysis system. Methods The Ingenuity pathway analysis system was used to analyze signal pathway networks and canonical pathways from protein-mapping data, comparative proteomic data, adenoma nitroproteomic data, and control nitroproteomic data. A Fisher's exact test was used to test the statistical significance with a significance level of 0.05. Statistical significant results were rationalized within the pituitary adenoma biological system with literature-based bioinformatics analyses. Results For the protein-mapping data, the top pathway networks were related to cancer, cell death, and lipid metabolism; the top canonical toxicity pathways included acute-phase response, oxidative-stress response, oxidative stress, and cell-cycle G2/M transition regulation. For the comparative proteomic data, top pathway networks were related to cancer, endocrine system development and function, and lipid metabolism; the top canonical toxicity pathways included mitochondrial dysfunction, oxidative phosphorylation, oxidative-stress response, and ERK/MAPK signaling. The nitroproteomic data from a pituitary adenoma were related to cancer, cell death, lipid metabolism, and reproductive system disease, and the top canonical toxicity pathways mainly related to p38 MAPK signaling and cell-cycle G2/M transition regulation. Nitroproteins from a pituitary control related to gene expression and cellular development, and no canonical toxicity pathways were identified. Conclusions This pathway network analysis demonstrated that mitochondrial dysfunction, oxidative stress, cell-cycle dysregulation, and the MAPK-signaling abnormality are significantly associated with a pituitary adenoma. These pathway-network data provide new insights into the molecular mechanisms of human pituitary adenoma pathogenesis, and new clues for an in-depth investigation of pituitary adenoma and biomarker discovery.</p
Knowledge actors and the construction of new governing panoramas:The case of the European Commission’s DG Education and Culture
RESUMO: Este artigo aborda o tema da governança da educação na Europa. Esse espaço da política tem sido dominado por grandes interesses e organizações transnacionais, entre as quais se destacam a Organização para a Cooperação e Desenvolvimento Econômico (OCDE) e a Comissão Europeia (CE). Este artigo procura explorar e explicar quais são os efeitos constitutivos que as práticas sistemáticas de 'medição' e de estandardização têm na intensificação da convergência entre a Direção-Geral de Educação e Cultura da CE e a OCDE, a qual, por meio do PISA e de outros testes internacionais, tornou-se um ator influente na política educativa em uma escala global. O artigo pretende identificar os feitos do 'governo pelos números' nas interdependências criadas entre as duas organizações internacionais
Improved prosthetic hand control with concurrent use of myoelectric and inertial measurements
Abstract Background Myoelectric pattern recognition systems can decode movement intention to drive upper-limb prostheses. Despite recent advances in academic research, the commercial adoption of such systems remains low. This limitation is mainly due to the lack of classification robustness and a simultaneous requirement for a large number of electromyogram (EMG) electrodes. We propose to address these two issues by using a multi-modal approach which combines surface electromyography (sEMG) with inertial measurements (IMs) and an appropriate training data collection paradigm. We demonstrate that this can significantly improve classification performance as compared to conventional techniques exclusively based on sEMG signals. Methods We collected and analyzed a large dataset comprising recordings with 20 able-bodied and two amputee participants executing 40 movements. Additionally, we conducted a novel real-time prosthetic hand control experiment with 11 able-bodied subjects and an amputee by using a state-of-the-art commercial prosthetic hand. A systematic performance comparison was carried out to investigate the potential benefit of incorporating IMs in prosthetic hand control. Results The inclusion of IM data improved performance significantly, by increasing classification accuracy (CA) in the offline analysis and improving completion rates (CRs) in the real-time experiment. Our findings were consistent across able-bodied and amputee subjects. Integrating the sEMG electrodes and IM sensors within a single sensor package enabled us to achieve high-level performance by using on average 4-6 sensors. Conclusions The results from our experiments suggest that IMs can form an excellent complimentary source signal for upper-limb myoelectric prostheses. We trust that multi-modal control solutions have the potential of improving the usability of upper-extremity prostheses in real-life applications
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