Search results for " and neonatal diseases and abnormalities"
showing 10 items of 344 documents
Oromandibular dystonia: A dental approach
2010
Oromandibular dystonia consists of prolonged spasms of contraction of the muscles of the mouth and jaw. Primary idiopathic forms and secondary forms exist. Secondary dystonia develops due to environmental factors; some cases of cranial dystonia after dental procedure have been reported, but the causal relationship between these procedures and dystonia remains unclear. Traumatic situations in the mouth, such as poor aligned dentures or multiple teeth extractions may cause an impairment of proprioception of the oral cavity, leading to subsequent development of dystonia. The clinical characteristics of oromandibular dystonia are classified according to the affected muscles. The muscles involve…
Un modelo en Drosophila del mecanismo de patogénesis de las expansiones ctg en la distrofia miotónica.
2007
La distrofia miotónica tipo 1 (DM1) es una enfermedad neuromuscular que se debe auna expansión de repeticiones CTG inestables en la región 3' no traducida del genproteína kinasa de la DM (DMPK). La DM1 se caracteriza por la miotonía y distrofiamuscular que muestran los pacientes, los cuales también presentan cataratas,arritmias cardiacas y alteraciones neuropatológicas. A nivel bioquímico muestrandefectos en el procesado alternativo de pre-mRNAs específicos lo cual explica algunossíntomas definitorios de la DM1. El mecanismo de patogénesis se debe a la toxicidadde los RNAs con expansiones CUG para la célula. Varias proteínas de unión a RNA,como las proteínas humanas Muscleblind-like MBNL1-3…
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I
2019
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients' leucocytes were studied: enzyme activity at 15 min. post-infusion (Act(75)) reflects the amount of enzyme that is distributed in the body post-ERT infusion, and accumulated glucocerebrosidase activity…
New Frontiers in Cancer Imaging and Therapy Based on Radiolabeled Fibroblast Activation Protein Inhibitors: A Rational Review and Current Progress.
2021
Over the past decade, the tumor microenvironment (TME) has become a new paradigm of cancer diagnosis and therapy due to its unique biological features, mainly the interconnection between cancer and stromal cells. Within the TME, cancer-associated fibroblasts (CAFs) demonstrate as one of the most critical stromal cells that regulate tumor cell growth, progression, immunosuppression, and metastasis. CAFs are identified by various biomarkers that are expressed on their surfaces, such as fibroblast activation protein (FAP), which could be utilized as a useful target for diagnostic imaging and treatment. One of the advantages of targeting FAP-expressing CAFs is the absence of FAP expression in q…
The iron-regulatory hormone hepcidin: A possible therapeutic target?
2015
The maintenance of stable extracellular and intracellular iron concentrations requires the coordinated regulation of iron transport into plasma. Iron is a fundamental cofactor for several enzymes involved in oxidation-reduction reactions. The redox ability of iron can lead to the production of oxygen free radicals, which can damage various cellular components. Therefore, the appropriate regulation of systemic iron homeostasis is decisive in vital processes. Hepcidin has emerged as the central regulatory molecule of systemic iron homeostasis. It is synthesized in hepatocytes and in other cells and released into the circulation. It inhibits the release of iron from enterocytes of the duodenum…
Crystallization and preliminary crystallographic analysis of the major capsid proteins VP16 and VP17 of bacteriophage P23-77.
2012
The major capsid proteins VP16 and VP17 of bacteriophage P23-77 have been crystallized using both recombinant and purified virus and preliminary diffraction analyses have been performed.
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
2015
ABSTRACT Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1) disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the molecular mechanisms leading to the degenerative loss of adult muscle tissue in DM1, we generated an inducible Drosophila model of expanded CTG trinucleotide repeat toxicity that resembles an adult-onset form of the disease. Heat-shock induced expression of 480 CUG repeats in adult flies resulted in a reduction in the area of the indirect flight muscles. In these model flies, reduction of muscle area was concomitant with increased apopto…
Optical Coherence Tomography Characterization of Macular Changes Secondary to Arteriovenous Fistula
2017
Arteriovenous fistulas (AVFs) are abnormal shunts between the arterial and venous vascular systems. These usually produce ocular pain, increased intraocular pressure (IOP), and diplopia. Less frequently, they may cause retinal changes with visual impairment. Our purpose is to illustrate different retinal manifestations of AVF. We report the multimodal imaging study of three cases with retinal changes due to AVF, showing neurosensory retinal detachment, macular oedema, and macular ischemia. In conclusion, AVF may appear with different ophthalmic alterations. While usually increased IOP and diplopia are our main concerns, retinal study is mandatory, since a myriad of morphologic abnormalities…
Case report of a large cephalic vein aneurysm inducing heart failure in a renal transplant patient with radio-cephalic fistula for haemodialysis
2020
Highlights • The venous aneurysm is one of the most common complications of autologous AVF. • The vein aneurysm should be treat by surgical resection and anastomotic ligature. • AVF shouldn’t be ligated from 1-year kidney transplantation except in some cases. • Surgical ligation to prevent complications could be considered an option.
Impact of Cumulative Dose of Carfilzomib in Combination with Lenalidomide and Dexamethasone in Relapsed Refractory Myeloma Patients: A Retrospective …
2018
Abstract Background: Triplet-based lenalidomide plus dexamethasone (Rd) combinations have become the new standard of care for early relapse and refractory multiple myeloma (RRMM). Carfilzomib is a novel selective proteasome inhibitor (PI) with high efficacy in RRMM. The ASPIRE phase 3 trial showed the superiority of carfilzomib-based triplet (KRd compared to Rd), leading to approval of K for RRMM. However, little is known about safety and efficacy of KRd outside a clinical trial context. Experimental design and aims: In 11 Sicilian Centers belonging to the Sicilian Myeloma Network, from November 2016, when KRd regimen was approved in Italy, to June 2018, 103 consecutive RRMM patients (previ…