Search results for "neonatal"
showing 10 items of 581 documents
Linfangioma Quístico de la Rodilla : (a propósito de un caso)
1989
The authors show a case of Iymphangioma cystic of the knee. They analize it's rare ubication, pathology and treatment.
Artropatía neuropática diabética del tobillo
1986
An unusual localisation of Charcot's joint disease is the ankle. A 31 year old patient developped a Charcot's joint after a trivial trauma, the spontaneus fracture of the tallus was followed by a quick joint destroy.
The effects of post-translational processing on dystroglycan synthesis and trafficking1
2003
Dystroglycan is a component of the dystrophin glycoprotein complex that is cleaved into two polypeptides by an unidentified protease. To determine the role of post-translational processing on dystroglycan synthesis and trafficking we expressed the dystroglycan precursor and mutants thereof in a heterologous system. A point mutant in the processing site, S655A, prevented proteolytic cleavage but had no effect upon the surface localisation of dystroglycan. Mutation of two N-linked glycosylation sites that flank the cleavage site inhibited proteolytic processing of the precursor. Furthermore, chemical inhibition of N- and O-linked glycosylation interfered with the processing of the precursor a…
Multiplex Ligation-dependent Probe Amplification (MLPA)
2011
The Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based method. The procedure relies on sequence-specific probe hybridization of genomic DNA, followed by multiplex-PCR amplification of the hybridized probe and a semiquantitative analysis of the resulting PCR products. MLPA allows the analysis of around 40 loci in the same reaction, and is a sensitive and relatively fast technique. Only a small amount of DNA is required and results are available within 2 days.The critical factors when performing MLPA analyses from formalin-fixed paraffin-embedded (FFPE) tissues are DNA integrity and purity; for this reason, a suitable DNA extraction method must be chosen.The MLPA protocol …
Duchenne Muscular Dystrophy (DMD): Should it be Considered a Systemic Disease?
2016
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease characterized by progressive skeletal muscle loss and development of respiratory failure due to involvement of respiratory muscles. Similar to human DMD, the mdx mouse model lacks dystrophin but is characterized by relatively mild muscle injury, allowing testing the effects of mild endurance exercise training on dystrophic skeletal muscle. We were interested to study the effects of exercise training on airway cells in trained mdx mice by applying the same protocol previously tested in Swiss mice. We found that mdx mice showed little airway inflammation associated with training, but developed increasing apoptosis of airway cells…
Granuloma anulare disseminatum als seltene Nebenwirkung von Allopurinol
1995
During long-term therapy of hyperuricaemia with allopurinol (300 mg/d) two patients developed generalized granuloma annulare. The diagnoses were confirmed by histology; concomitant diseases, especially diabetes mellitus, were not detectable. Following discontinuation of allopurinol therapy, cutaneous granulomas healed without relapse. Hyperuricaemia could be controlled by low-purine diet and medication avoiding allopurinol. The clinical history of our two patients suggested a causal connection between allopurinol therapy and generalized granuloma annulare. For this reason we rate the development of this disease in both cases as a rare but significant side effect of allopurinol. This should …
Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.
2012
Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied a…
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
Efectos de las diferentes ondas de flujo y de la pausa teleinspiratoria sobre la oxigenación y ventilación en modelo animal
2015
Clásicamente, la elección de modo ventilatorio en el neonato ha sido el flujo decelerado (DF) o ventilación mecánica por presión (VCP). Se ha sugerido que la onda de flujo decelerada mejora el intercambio de gases y la ventilación perfusión al compararla con la onda de flujo cuadrada (SF) o ventilación controlada por volumen (VCV). Aunque la superioridad de la DF comparada con la SF no ha sido todavía demostrada durante la ventilación de los neonatos. En el presente trabajo se han estudiado por primera vez los efectos sobre la oxigenación y ventilación de ambos flujos, decelerado y cuadrado, con y sin pausa tele- inspiratoria (EIP). Así como el efecto sobre la mecánica respiratoria y la hem…
Intrauterine and Neonatal Exposure to Opioids: Toxicological, Clinical, and Medico-Legal Issues
2023
Opioids have a rapid transplacental passage (i.e., less than 60 min); furthermore, symptoms characterize the maternal and fetal withdrawal syndrome. Opioid withdrawal significantly impacts the fetus, inducing worse outcomes and a risk of mortality. Moreover, neonatal abstinence syndrome (NAS) follows the delivery, lasts up to 10 weeks, and requires intensive management. Therefore, the prevention and adequate management of NAS are relevant public health issues. This review aims to summarize the most updated evidence in the literature regarding toxicological, clinical, and forensic issues of intrauterine exposure to opioids to provide a multidisciplinary, evidence-based approach for managing …