Search results for "Repo"
showing 10 items of 2753 documents
Knowledge of bisphosphonate-related osteonecrosis of the Jawsamong Mexican dentists
2017
Background Bisphosphonate-related osteonecrosis is an infrequent but potentially serious complication. Its treatment remains complex, and in some cases can be mutilating. Prevention, a correct diagnosis and opportune management are crucial. Material and Methods A cross-sectional study was made, interviewing 410 dentists with the aim of assessing their knowledge of the subject. Results Practically all of the dental professionals (99.7%) were found to lack sufficient knowledge of the prevention, diagnosis and management of bisphosphonate-related osteonecrosis. Conclusions Actions including increased diffusion in the professional media and inclusion of the subject in training programs are need…
Reporting heterogeneity in health: an extended latent class approach
2012
This article explores how individual socio-economic characteristics affect unobserved heterogeneity in self-reporting behaviour and health production using a multivariate finite mixture model. Results show a positive relationship between objective and subjective observable health indicators and true health and support the existence of self-reporting bias related to socio-economic characteristics and individual life styles.
Quantification of Recruit Training Demands and Subjective Wellbeing during Basic Military Training
2022
Purpose: Assess and describe the physical demands and changes in subjective wellbeing of recruits completing the 12 week Australian Army Basic Military Training (BMT) course. Methods: Thirty-five recruits (24.8 ± 6.8 y; 177.4 ± 10.1 cm, 75.6 ± 14.7 kg) consented to daily activity monitoring and weekly measures of subjective wellbeing (Multi-component Training Distress Scale, MTDS). The physical demands of training were assessed via wrist worn activity monitors (Actigraph GT9X accelerometer). Physical fitness changes were assessed by push-ups, sit-ups and multi-stage shuttle run in weeks 2 and 8. Results: All objective and subjective measures significantly changed (p <…
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
2022
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
2015
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed una…
Early cardiac unloading with ImpellaCP™ in acute myocardial infarction with ventricular septal defect
2020
Abstract Despite a relative contraindication, mechanical support with Impella™ left ventricular assist device has already been described for ischaemic ventricular septal defect treatment, either as a bridge to surgery, as intraoperative mechanical haemodynamic support, or to ensure intraprocedural haemodynamic stability during device closure. We describe two cases of ventricular septal defect complicating acute myocardial infarction, where the percutaneous ImpellaCP was implanted early (differently than previously described) with the aim of preventing haemodynamic instability, while deferring surgical repair. We present a report of haemodynamic, echocardiographic, biochemical, and clinical …
Effectiveness of cyclosporine and mycophenolate mofetil in a child with refractory evans syndrome
2011
Evans Syndrome is a rare autoimmune disease consisting of hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. Its course can be extremely serious and, rarely, even life-threatening
Activation of oligodendroglial Fyn kinase enhances translation of mRNAs transported in hnRNP A2-dependent RNA granules.
2008
Central nervous system myelination requires the synthesis of large amounts of myelin basic protein (MBP) at the axon–glia contact site. MBP messenger RNA (mRNA) is transported in RNA granules to oligodendroglial processes in a translationally silenced state. This process is regulated by the trans-acting factor heterogeneous nuclear ribonucleoprotein (hnRNP) A2 binding to the cis-acting A2 response element (A2RE). Release of this repression of MBP mRNA translation is thus essential for myelination. Mice deficient in the Src family tyrosine kinase Fyn are hypomyelinated and contain reduced levels of MBP. Here, we identify hnRNP A2 as a target of activated Fyn in oligodendrocytes. We show that…
Spatial shaping of cochlear innervation by temporally regulated neurotrophin expression.
2001
Previous work suggested qualitatively different effects of neurotrophin 3 (NT-3) in cochlear innervation patterning in different null mutants. We now show that all NT-3 null mutants have a similar phenotype and lose all neurons in the basal turn of the cochlea. To understand these longitudinal deficits in neurotrophin mutants, we have compared the development of the deficit in the NT-3 mutant to the spatial–temporal expression patterns of brain-derived neurotrophic factor (BDNF) and NT-3, using lacZ reporters in each gene and with expression of the specific neurotrophin receptors, trkB and trkC. In the NT-3 mutant, almost normal numbers of spiral ganglion neurons form, but fiber outgrowth t…
HSP10,HSP70 AND HSP90 IMMUNOHISTOCHEMICAL LEVELS CHANGE IN ULCERATIVE COLITIS AFTER THERAPY
2011
Ulcerative colitis (UC) is a form of inflammatory bowel disease (IBD) characterized by damage of large bowel mucosa and frequent extra-intestinal autoimmune comorbidities. The role played in IBD pathogenesis by molecular chaperones known to interact with components of the immune system involved in inflammation is unclear. We previously demonstrated that mucosal Hsp60 decreases in UC patients treated with conventional therapies (mesalazine, probiotics), suggesting that this chaperonin could be a reliable biomarker useful for monitoring response to treatment, and that it might play a role in pathogenesis. In the present work we investigated three other heat shock protein/molecular chaperones:…