Publications by authors named "Pozzer D"

Article Synopsis
  • * Research indicates that the synthetic compound Trofinetide and nerve growth factor (rhNGF) may provide therapeutic benefits, as seen in both cell cultures and in vivo studies with mice lacking MECP2.
  • * Positive results from treatments with rhNGF showed improved cognitive and motor abilities in both male and female mouse models of Rett syndrome, with further analysis planned to explore underlying molecular mechanisms.
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Introduction: Absenteeism of health workers is important because it interferes with the quality of care provided to patients.

Objectives: To characterize the absenteeism-illness of workers in the municipal public health network in Chapecó, SC, Brazil (2015-2018) and test the association of two or more absences in the year with the study variables.

Methods: A crosssectional study was conducted, and the variables studied were sex; age group; professional category; acting time; International Classification of Diseases and Related Health Problems, and sick leave.

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Loss and gain of functions mutations in the X-linked (methyl-CpG-binding protein 2) gene are responsible for a set of generally severe neurological disorders that can affect both genders. In particular, deficiency is mainly associated with Rett syndrome (RTT) in girls, while duplication of the gene leads, mainly in boys, to the duplication syndrome (MDS). No cure is currently available for related disorders.

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SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis and life-threatening respiratory failure. Core lesions, focal areas of mitochondria depletion in skeletal muscle fibers, are the most common histopathological lesion. SEPN1-RM underlying mechanisms and the precise role of SEPN1 in muscle remained incompletely understood, hindering the development of biomarkers and therapies for this untreatable disease.

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Humans cannot synthesize ascorbic acid (AscH) (vitamin C), so deficiencies in dietary AscH cause the life-threatening disease of scurvy and many other diseases. After oral ingestion, plasma AscH concentrations are strictly controlled by transporters, which are required for entry into the cell and into intracellular organelles. Besides its general antioxidant function, AscH is a cofactor for endoplasmic reticulum (ER)-localized collagen hydroxylases.

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The physiological relevance of contacts between the sarcoplasmic reticulum (SR), a specialized domain of the endoplasmic reticulum (ER) in skeletal muscle, and mitochondria is still not clear. An extensive close proximity of these two organelles is a late developmental event, which suggests that it does not have an essential function. The intimate association of SR/mitochondria develops during murine postnatal differentiation and the recovery of denervated atrophic muscle, which suggests that this is a highly regulated process with a specific function.

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Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy). The exact cause of the insulin resistance in patients with SELENON loss of function is not known. Skeletal muscle is the main contributor to insulin-mediated glucose uptake, and a defect in this muscle-related mechanism triggers insulin resistance and glucose intolerance.

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Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to human SELENON-related myopathies. SelenoN knockout (KO) mouse limb muscles, however, are protected from the disease, and display no major alterations in muscle histology or contractile properties. Interestingly, we find that the highly active diaphragm muscle shows impaired force production, in line with the human phenotype.

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Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyperoxidized ER (which causes ER and oxidative stress) with skeletal muscle dysfunction. An unbiased exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive signalling of transforming growth factor (TGF)-beta.

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Many efforts have been performed in order to understand the role of recruited macrophages in the progression of spinal cord injury (SCI). Different studies revealed a pleiotropic effect played by these cells associated to distinct phenotypes (M1 and M2), showing a predictable spatial and temporal distribution in the injured site after SCI. Differently, the role of activated microglia in injury progression has been poorly investigated, mainly because of the challenges to target and selectively modulate them in situ.

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Aims: To assess the results of transcatheter ablation of cardiac arrhythmias in Latin America and establish the first Latin American transcatheter ablation registry.

Methods And Results: All ablation procedures performed between 1 January and 31 December 2012 were analysed retrospectively. Data were obtained on the characteristics and resources of participating centres (public or private institution, number of beds, cardiac surgery availability, type of room for the procedures, days per week assigned to electrophysiology procedures, type of fluoroscopy equipment, availability and type of electroanatomical mapping system, intracardiac echo, cryoablation, and number of electrophysiologists) and the results of 17 different ablation substrates: atrio-ventricular node reentrant tachycardia, typical atrial flutter, atypical atrial flutter, left free wall accessory pathway, right free wall accessory pathway, septal accessory pathway, right-sided focal atrial tachycardia, left-sided focal atrial tachycardia, paroxysmal atrial fibrillation, non-paroxysmal atrial fibrillation, atrio-ventricular node, premature ventricular complex, idiopathic ventricular tachycardia, post-myocardial infarction ventricular tachycardia, ventricular tachycardia in chronic chagasic cardiomyopathy, ventricular tachycardia in congenital heart disease, and ventricular tachycardias in other structural heart diseases.

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Objective: To determine in patients with normal ejection fraction, undergoing permanent VVI pacing, if medial septal stimulation has lower dyssynchrony than apical stimulation assessed by echocardiography.

Method: A prospective trial, 19 patients>70 years old, scheduled for VVI pacemaker implantation for complete degenerative atrioventricular block, ventricular frequency<50beat per minute and ejection fraction≥45%. Patients with atrial fibrillation, heart failure, left bundle branch block and QRS durations longer than 120milliseconds in surface electrocardiogram with sinus rhythm were excluded.

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The main goal was to know the epidemiologic, clinical, electrocardiographic and radiologic characteristics among a population of seropositives and seronegatives to Trypanosoma cruzi in a rural area of the Department of San Miguel, province of Corrientes, Argentina. One hundred and thirty-two patients of different ages: 2-79 years old were researched (58 males, 74 females). In order to make a thorough assessment clinical evaluation and cardiologic testing were carried out.

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