Desmoid-type fibromatosis is a rare mesenchymal neoplasm with local aggressiveness. The incidence of desmoid-type fibromatosis is 2–5/million/year with intra-abdominal fibromatosis, such as that which is reported in this clinical case, occurring only in 12–18% of cases. After having analyzed the pathogenetic hypotheses of desmoid-type fibromatosis, the authors point out that the diagnosis of this disease, especially in the intra-abdominal form, is often late, specifically when highly demolitive interventions are needed or when the limits of radical surgery have been exceeded. In the clinical case reported, the tumor was infiltrating both ileus and sigma. The authors consider the differential diagnosis of desmoid-type fibromatosis, especially with GISTs, with regard to both the radiological preoperative diagnostic and histological studies on the surgical specimen. Radical surgical excision is not always, for this disease, a sign of healing; in fact, even when the resection margins are negative, the incidence of recurrence is between 13 and 68%. The average time of recurrence is between 15 and 24 months; in this case report, the patient, who has not been subjected to complementary therapies, is tumor-free for over 30 months since surgery; his prognosis may be satisfactory if we consider the negativity of resection margins, which in any case remains the most important prognostic factor.
Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.
Inferior vena cava filters are an excellent therapeutic method for those patients in whom anticoagulant therapy is contraindicated or ineffective. However, filter placement is associated with a high rate of serious complications (>30%), with death occurring in 3.7% of patients. The most common complication is an asymptomatic inferior vena cava penetration and perforation. In some rare circumstances, however, therapeutic intervention may be required because of perforation of adjacent organs. We report a clinical case of a patient with simultaneous caval, duodenal, and aortic perforation resulting from penetration of inferior vena cava filter hooks. A brief review of the literature discusses presenting symptoms and treatment of such rare complications.
Alzheimer’s Disease (AD) is a neurodegenerative disorder affecting up to one third of individuals reaching the age of 80. Different integrated responses exist in the brain to detect oxidative stress which is controlled by several genes termed Vitagenes. Vitagenes encode for cytoprotective heat shock proteins (Hsp), as well as thioredoxin, sirtuins and uncouple proteins (UCPs). In the present study we evaluate stress response mechanisms in plasma and lymphocytes of AD patients, as compared to controls, in order to provide evidence of an imbalance of oxidant/antioxidant mechanisms and oxidative damage in AD patients and the possible protective role of vitagenes.We found that the levels of Sirt-1 and Sirt-2 in AD lymphocytes were significantly higher than in control subjects. Interestingly, analysis of plasma showed in AD patients increased expression of Trx, a finding associated with reduced expression of UCP1, as compared to control group.This finding can open up new neuroprotective strategies, as molecules inducing this defense mechanisms can represent a therapeutic target to minimize the deleterious consequences associated to oxidative stress, such as in brain aging and neurodegenerative disorders.
Multiple sclerosis (MS) is an autoimmune-mediated neurodegenerative disease with characteristic foci of inflammatory demyelination in the brain, spinal cord, and optic nerves. Recent studies have demonstrated not only that axonal damage and neuronal loss are significant pathologic components of MS, but that this neuronal damage is thought to cause the permanent neurologic disability often seen in MS patients. Emerging finding suggests that altered redox homeostasis and increased oxidative stress, primarily implicated in the pathogenesis of MS, are a trigger for activation of a brain stress response. Relevant to maintenance of redox homeostasis, integrated mechanisms controlled by vitagenes operate in brain in preserving neuronal survival during stressful conditions. Vitagenes encode for heat shock proteins (Hsp) Hsp32, Hsp70, the thioredoxin and the sirtuin protein systems. In the present study we assess stress response mechanisms in the CSF, plasma and lymphocytes of control patients compared to MS patients. We found that the levels of vitagenes Hsp72, Hsc70, HO-1, as well as oxidative stress markers carbonyls and hydroxynonenals were significantly higher in the blood and CSF of MS patients than in control patients. In addition, an increased expression of Trx and sirtuin 1, together with a decrease in the expression of TrxR were observed. Our data strongly support a pivotal role for redox homeostasis disruption in the pathogenesis of MS and, consistently with the notion that new therapies that prevent neurodegeneration through nonimmunomodulatory mechanisms can have a tremendous potential to work synergistically with current MS therapies, unravel important targets for new cytoprotective strategies
Several studies explored the effects of acetyl-L-carnitine (ALC) in dementia, suggesting a role in slowing down cognitive decline. Nevertheless, in 2003 a systematic review concluded there was insufficient evidence to recommend a clinical use, although a meta-analysis in the same year showed a significant advantage for ALC for clinical scales and psychometric tests. Since then, other studies have been published; however, a critical review is still lacking. We provide an update of the studies on ALC in primary and secondary dementia, highlighting the current limitations and translational implications. Overall, the role of ALC in dementia is still under debate. The underlying mechanisms may include restoring of cell membranes and synaptic functioning, enhancing cholinergic activity, promoting mitochondrial energy metabolism, protecting against toxins, and exerting neurotrophic effects. The effects of ALC on the gut–liver–brain axis seem to identify the category of patients in which the new insights contribute most to the mechanisms of action of ALC, likely being the liver metabolism and the improvement of hepatic detoxifying mechanisms the primary targets. In this framework, our research group has dealt with this topic, focusing on the ALC-related cross-talk mechanisms. Further studies with homogeneous sample and longitudinal assessment are needed before a systematic clinical application.
Eagle's syndrome (ES) refers to symptomatic elongation of the ossified styloid process. A styloid process greater than 2.5 cm in length should be considered abnormal; however, an elongated styloid process is not sufficient for a diagnosis of ES; only an abnormal styloid process in association with symptoms can confirm the syndrome. In this case report, we discuss a 54-year-old man who has come to our attention with various symptoms: dysphagia to both solids and liquids, difficulty swallowing, neck pain, and a foreign body sensation during bilateral neck rotation and mouth opening. The diagnosis is performed radiologically because conventional radiographs have many potential disadvantages, whereas, computed tomography (CT) scans and reconstructions allow the length and angulation of the styloid process to be measured and the relationship between the elongated styloid processes and adjacent anatomical structures to be evaluated. Moreover, CT allows for differential diagnosis and provides detailed information needed for surgical planning.
Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
334 Leonard St
Brooklyn, NY 11211
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.