1,721,020 research outputs found
Aspetti medico legali dei "nuovi" biomarkers dell'abuso cronico di alcool in vivente e cadavere
No full textgli Autori analizzano gli aspetti medico legali dei "nuovi" biomarkers dell'abuso cronico di alcool in vivente e cadavere. Fra questi, l'utilizzo del dosaggio della CDT, potrebbe trovare una importante valenza in tema di accertamenti idoneativi alla guida in soggetti assuntori periodici o cronici di alcoo
Sarcoidosis of the lacrimal gland: The prominence of the differential diagnosis
No full textSarcoidosis is a multisystem disease that can involve any organ; lungs, lymph nodes and skin are the most involved. Compatible clinical and imaging features, the identification of non-caseous granulomas on biopsy and the exclusion of other causes of granulomatous disorders help formulate the diagnosis of sarcoidosis. A bilateral symmetrical hilar lymphadenopathy together with the typical perilymphatic distribution of nodules is typically visible on high-resolution CT.The average age is 48 years. Ocular sarcoidosis is not rare, it is reported in 25% of cases. Half of the sarcoidosis patients resolve spontaneously; treatment is only indicated in cases with severe symptoms or signs of organ damage. Classical treatments are based on the use of corticosteroids and immunosuppressive therapies, sometimes combined
Masseteric giant capillary haemangioma: a bulky mass treated with scarless and minimally invasive surgery
No full textIn this article, the authors report their management with minimally invasive surgery and embolisation of a bulky intramuscular capillary haemangioma. Masseteric capillary haemangioma is a rare tumour in adults: in cases of large-sized tumours we suggest a multidisciplinary approach in choosing the best treatment and minimally invasive, scarless surgery
Intramuscular lipoma of the temporalis muscle extending to the infratemporal fossa: Surgical pitfalls and short literature review
No full textLipomas are benign tumours of mesenchymal origin, representing one of the most common tumours of the body. They are often observed between the fourth and the sixth decade of life and in 13% of the cases they occur in the head and neck region. In case of symptoms, surgical removal is the treatment of choice; when the formation involves the temporal region, the surgical approach is often challenging due to the presence of the neurovascular structures, such as the temporalis branch of the facial nerve and their potential extension to the nearby structures under the zygomatic arch to either the infratemporal fossa or the buccal region. Recurrence can occur frequently only if there is incomplete removal of lipoma. In this paper, the authors discuss surgical pitfalls of a very rare case of a large-sized symptomatic lipoma extended to the infratemporal and pterygomaxillary fossa, surgically removed via trans-zygomatic hemicoronal approach
Metastasizing Pleomorphic Adenoma of Parotid Gland: A Case Report and Literature Review
No full textThe authors hereby present a case report of metastasizing pleomorphic adenoma (MPA) of the parotid gland with multiple metachronous cervical lymph node metastases and sternocleidomastoid muscle infiltration. Diagnostic evaluation, surgical management, and follow-up are discussed along with a brief review of the literature
In vitro Validation of Chimeric β-Galactosylceramidase Enzymes With Improved Enzymatic Activity and Increased Secretion
Full text linkGloboid Cell Leukodystrophy (GLD) is a lysosomal storage disease (LSD) caused by inherited defects of the β-galactosylceramidase (GALC) gene. The infantile forms display a rapid and aggressive central and peripheral nervous system (CNS and PNS) dysfunction. No treatments are available for GLD patients. Effective gene therapy (GT) strategies for GLD require a safe and widespread delivery of the functional GALC enzyme to all affected tissues/organs, and particularly to the CNS. The use of chimeric lysosomal enzymes with increased secretion and enhanced transport across the blood-brain barrier (BBB) that boost the efficacy of GT approaches in pre-clinical models of similar neurodegenerative LSDs may benefit GLD as well. Here, we tested the safety and biological efficacy of chimeric GALC enzymes engineered to express an alternative signal peptide (iduronate-2-sulfatase – IDSsp) and the low-density lipoprotein receptor (LDLr)-binding domain from the Apolipoprotein E II (ApoE II) in GLD murine neural and hematopoietic stem/progenitor cells and progeny, which are relevant cells types in the context of in vivo and ex vivo GT platforms. We show that the lentiviral vector-mediated expression of the chimeric GALC enzymes is safe and leads to supranormal enzymatic activity in both neural and hematopoietic cells. The IDSsp.GALC shows enhanced expression and secretion in comparison to the unmodified GALC. The chimeric GALC enzymes produced by LV-transduced cells reduce intracellular galactosylceramide (GalCer) storage and effectively cross-correct GLD murine neurons and glial cells, indicating that the transgenic enzymes are delivered to lysosomes, efficiently secreted, and functional. Of note, the expression of LDLr and LDLr-related proteins in GLD neurons and glial cells supports the exploitation of this system to enhance the GALC supply in affected CNS cells and tissues. These in vitro studies support the use of chimeric GALC enzymes to develop novel and more effective GT approaches for GLD
Granulomatous cheilitis: Differential diagnosis in patients with macrocheilia
No full textMacrocheilia, or lip enlargement, has a varied aetiology, but granulomatous conditions, both infective and non-infective, comprise a significant proportion of patients. Diagnosis starts with clinical investigations while histological examination is required for a definitive diagnosis. In the case presented, a young man presented with painless swelling of upper lip over the past 3 months. Given the clinical history and biopsy results, the diagnosis of granulomatous cheilitis was made which is considered a rare manifestation of metastatic Crohn's disease. Treatment options remain debated, though in the situation presented a conservative approach was adopted, consisting of antibiotics and corticosteroid therapy, which resulted in significant remission in lip swelling without recurrence after a 3-month follow-up
Life-threatening mandibular angle gigantic osteoma presenting with severe dyspnoea
No full textOsteoma is a benign osteogenic tumour. Solitary osteoma of the jaws usually involves the mandible and commonly remains asymptomatic. Purpose of this article is to report a case of life-threatening gigantic mandibular osteoma in an edentulous woman in her 70s developed in the lingual side of the mandibular angle presenting at emergency department with dyspnoea and discuss the correct management of the patient and the surgical approach for space occupying mass in the pharapharyngeal space
Deviation analysis in custom-made mandibular reconstruction: how to evaluate results
No full textThe purpose of this case report is to present a deviation analysis made to evaluate the accuracy and reproducibility of virtual surgical planning - computer-aided design - computer-aided manufacturing (CAD/CAM) technology. These techniques were used to programme and perform both demolitive and reconstructive surgery in an 18-year-old man treated for a mandibular ameloblastoma. Total body CT scan and CT angiography were performed before the surgery. DICOM-format data were captured and a planning was performed using CAD/CAM technology. After the surgery, DICOM files of a postoperative CT scan were evaluated to assess the accuracy of the reconstruction. The deviation of the postoperative result from what was planned was indicated with different colours in a mandible mapper and changes in condylar and angular position between 0.5 mm and 2 mm were observed. A standardised method to evaluate accuracy or efficiency of CAD/CAM technology is still not available, nevertheless, since the patient has a good functional or aesthetic recover, the authors are satisfied with the results
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