Paranasal sinus fungus ball is an extramucosal mycosis, usually occurring in immunocompetent people as a monolateral lesion. To review the literature data and to report the Policlinico S. Matteo, University of Pavia experience, 81 patients presenting paranasal fungus ball have been treated (January 1994 to May 2005). Twenty-seven men and 54 women (19-91 years old; mean 49.4 years) were considered. Seventy-three patients had a single sinus affected, but eight presented multiple localisations. Maxillary was the most involved sinus followed by sphenoidal and ethmoidal. Moulds have been isolated in 28/81 cases. Histology showed fungal colonisation but not invasion in all cases. Tomography showed bone erosion in 33.3% of patients. All have been treated only by functional endoscopic sinus surgery. Seventy-seven of 81 patients have been cured. Four of 81 patients needed another surgical treatment. Follow up was between 6 and 132 months (average: 63 months). Fungus ball is a sinusal pathology caused by mycetes like Aspergillus spp. Histology confirms the fungal aethiology excluding tissue invasion. Mycological culture consented to identify the pathogenic mould in 34.5% of cases. Actually functional endoscopic sinus surgery is the gold standard for treatment of this pathology, and antifungal therapy is unnecessary.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder causing vascular dysplasias. About 70-80% of HHT patients carries mutations in ENG or ACVRL1 genes, which code for a TGFb receptor type III and I respectively. Molecular data on a large cohort of Italian HHT patients are presented, discussing the significance of missense and splice site mutations. Mutation analysis in ENG and ACVRL1 genes was performed using single strand conformation polymorphisms (SSCP), denaturing high performance liquid chromatography (DHPLC) and subsequent direct sequencing. Overall, 101 mutations were found, with ACVRL1 involved in 71% of cases. The highest number of mutations (28/101 subjects, 14/76 different mutations referring to both genes) was in ACVRL1, exon 3. Mutation analysis was then extended to a total of 356 family members, and 162 proven to carry the mutation. New polymorphisms were identified in both genes, and evidence that ENG P131L change is not a disease-causing mutation was also provided. An in silico analysis was performed in order to characterize splice-site mutations. These results were compared to other European national studies and data from Italy, France and Spain were consistent for an higher incidence of ACVRL1 mutations.
Presenting symptoms of the isolated sphenoid sinus lesion are often vague and non-specific. Diagnostic nasal endoscopy procedures and imaging techniques are of great value for an early and precise diagnosis. Moreover, endoscopic sinus surgery is a safe and effective technique that allows a direct route to the sphenoid sinus. Because of its close vicinity to important and vulnerable structures of the skull base, delay in diagnosis and treatment can be potentially lethal. Endoscopically controlled procedures for the sphenoid sinus provide the surgeon with an obvious alternative to the traditional approaches. From November 1994 to May 2001 the authors operated on 41 patients with isolated sphenoid lesions. The pathology spectrum was rather wide and included 11 cases of isolated fungal sinusitis, 10 mucoceles, 7 bacterial sinusitis, 7 cerebrospinal fluid leaks, 3 inverted papillomas, 1 chondrosarcoma, 1 ossifying fibroma and 1 foreign body. The sphenoid sinus was the only sinus involved, and lesions arising from adjacent tissues were excluded. In this paper, the authors present clinical symptoms, endoscopic findings and imaging data as well as endoscopic surgical techniques for the treatment of sphenoid sinus disease.
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