Role of biopsy in low-grade laryngeal chondrosarcoma: report of two cases.

Laryngeal chondrosarcomas are rare tumours that account for less than 1% of all sarcomas and originate principally from the crycoid cartilage. We report two cases: the former arising from thyroid cartilage in an 85-year-old male presenting with a palpable neck mass and hoarseness, dyspnoea and dysphagia; the other in a 54-year-old male with a mass growing from crycoid cartilage, who underwent biopsy followed by total laryngectomy. We discuss the peculiarity of the site of origin and the role of biopsy, the clinical presentation of the former case and the diagnostic and therapeutic procedures of the latter. Since it is a rare form of sarcoma arising in the larynx, we discuss the role of biopsy as a crucial although still controversial diagnostic tool.

Endoscopic expanded endonasal approach: preliminary experience with the new 3D endoscope.

The recent introduction of the 3D endoscope for endonasal surgery has been welcomed because of its promise to overcome the main limitation of endoscopy, namely the lack of stereoscopic vision. This innovation particularly regarded the most complex transnasal surgery of the skull base. We therefore discuss our early experience as ENT surgeons with the use of a purely 3D endoscopic expanded endonasal approach for supradiaphragmatic lesions in 10 consecutive patients. This article will focus on the surgical technique, the complications, the outcome, and more importantly the advantages and limitations of the new device. We believe that the new 3D system shows its main drawback when surgery is conducted in the narrow nasal spaces. Nevertheless, the improved knowledge of the three-dimensional nasal anatomy enabled the ENT surgeon to perform a more selective demolition of the nasal structures even in the anterior part of the nose. The depth perception obtained with the 3D system also permitted a better understanding of the plasticity of the surgical defects, increasing the confidence to perform successful skull base plasties. We believe that, for both the ENT surgeon and the neurosurgeon, the expanded endonasal approach is the main indication for this exciting tool, although larger prospective studies are needed to determine the equality to the 2D HD endoscope in oncological terms.

Transnasal 3D endoscopic skull base surgery: questionnaire-based analysis of the learning curve in 52 procedures.

In the past decade, surgical treatment of skull base pathologies has greatly advanced through the advent of the endoscope and later of the high definition endoscope. Recently a new type of three dimensional (3D) scope has been introduced to permit the surgeon a real stereoscopic vision of the operating field and to overcome the limitations of the 2D endoscopic set up. As with all new technologies a formalized adaptation period is essential for the surgeon to secure steady outcomes and low complications. To determine the subjective difficulties that one may encounter during this sensitive period we therefore devised and analyzed a questionnaire that evaluated the first ten procedures with the 3D device of junior and senior ENT and neurosurgeons. 52 consecutive patients were treated with purely 3D transnasal endoscopy for skull base pathologies. Sensation of strain or dizziness, difficulties in anatomical orientation and difficulties in performing the surgical gesture were assessed for each surgeon. The learning curve and difficulties of junior and senior surgeons are discussed and strategies to overcome the initial problems are devised. Our results confirm that after only few procedures, the advantages of the 3D endoscopic system including better visualization and depth perception are able to outweigh the inconveniences that go hand in hand with the learning of a new skill set.

Late diagnosis of a solitary fibrous tumour of the parapharyngeal space in a continuous positive airway pressure-treated patient.

Solitary fibrous tumours of the parapharyngeal space are a very rare finding and have been described less than 10 times in the English literature. The Authors discuss a clinical case of a solitary fibrous tumour in the parapharyngeal space in a 77-year-old male, who had begun treatment for a newly discovered obstructive sleep apnoea syndrome with a continuous positive airway pressure - device one year prior to diagnosis. This rare location of an uncommon lesion often gives rise to difficulty in diagnosis or to misdiagnosis and the Authors, therefore, made a review of the scientific literature and analysed the diagnostic and therapeutic procedures used. The importance of this report lies mainly in two aspects: on the one hand, the discussion concerning the diagnostic and therapeutic procedures and on the other, the need of a thorough evaluation in obstructive sleep apnoea syndrome patients before treating them with a chronic device like the continuous positive airway pressure device.

Does sphenopalatine endoscopic ganglion block have an effect in paroxysmal hemicrania? A case report.

The authors report the case of a 69-year-old woman suffering from paroxysmal hemicrania (PH), intolerant to indomethacin and resistant to multiple therapies, in which sphenopalatine endoscopic ganglion block (SPG) dramatically modified the clinical outcome. SPG blockade could be considered a reasonable alternative in drug-resistant PH cases where indomethacin is contraindicated.

The management of complications following displacement of oral implants in the paranasal sinuses: a multicenter clinical report and proposed treatment protocols.

This study retrospectively analyses paranasal sinus complications following displacement of oral implants in the maxillary sinus treated according to clinical situation by functional endoscopic sinus surgery (FESS), an intraoral approach, or a combination of both procedures. Over 5 years, 27 patients (13 male; 14 female), aged 27-73 years (mean 53.9 years), underwent treatment for postoperative complications involving the paranasal sinuses following displacement of oral implants in the maxillary sinuses. According to the complication (implant displacement, implant displacement with or without reactive sinusitis and/or with or without associated oro-antral communication), patients were treated with FESS, intraoral approach to the sinus, or FESS associated with an intraoral approach. Follow up lasted for at least 1 year with clinical and radiographic controls. 26 patients recovered completely; one patient underwent re-intervention with FESS and an intraoral approach 2 years after implant removal, due to persistent signs and symptoms of maxillary sinusitis and oro-antral communication. Postoperative recovery after the second procedure was followed by complete recovery. The results demonstrate that a rational choice of surgical protocol for the treatment of complications involving the paranasal sinuses following displacement of implants in the maxillary sinuses may lead to reliable results.

Maxillary sinusitis today: a consequence of dental and nasal disease. A case presenting with a difficult differential diagnosis.

Chronic maxillary sinusitis as an expression of infectious dental disease seemed destined to vanish. On the contrary, during the last years, the frequency of chronic maxillary sinusitis is rising again in relation to several factors, among these bacterial resistance as well as the poor dental hygiene and the limited access to odontologic care by not well-off patients play a key role. Anyway oral rehabilitative surgery (pre-implantologic and implantologic) is nowadays becoming the major cause of chronic maxillary sinusitis. The authors describe a recently observed case that, for its peculiarity, clearly exemplifies the variety of manifestations and the close relation between dental disease and anatomic nasal defects in the genesis of sinusal disease.

Endoscopic removal of alloplastic sinus graft material via a wide middle antrotomy.

The purpose of this paper is to discuss the treatment required for a patient affected by chronic maxillary sinusitis following a sinus grafting procedure with an alloplastic material. Sinusitis was not the consequence of migration of alloplastic material into the maxillary sinus, but rather the consequence of overfilling the subantral space followed by obstruction of the ostium. The treatment involved removal of the alloplastic material and correction of the ostium obstruction via a nasal endoscopic approach.

Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.

The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.

Skin testing correlates negatively with high-activity ACP1 *B/*C genotype.

BACKGROUND: Previous studies have shown a negative association between ACP1 *B/*C genotype and total IgE level. ACP1 (acid phosphatase locus 1) is a polymorphic phosphotyrosine phosphatase that interacts with IL4-RA and is involved in T cell receptor signaling. METHODS: In the present paper, we have studied the relationship between *B/*C genotype which shows high ACP1 activity and skin testing in 300 adult subjects referred for allergic manifestations. ACP1 genotypes were determined by DNA analysis. RESULTS: There is a significant negative correlation between the intensity of skin test reaction and *B/*C genotype (p = 0.01). The proportion of *B/*C genotype is lower in allergic subjects with intense skin reaction than in allergic subjects with moderate skin reaction and in healthy controls. CONCLUSIONS: This new observation confirms by a different approach the relationship between ACP1 polymorphism and allergic manifestations, suggesting that high ACP1 activity protects against these manifestations.

The role of the ear, nose and throat specialist in diagnosing headaches.

The revised International Headache Society classification (2004) represents a very good reference also for ear, nose and throat (ENT) specialists and can be largely shared. The authors follow the classification outline and comment on the chapters of ENT interest. The classification leaves unsolved problems and most of them are of ENT competence, such as mucosal contact point headache. It will be a task for ENT specialists to clarify the real role of very hypothetical primary forms frequently assigned to diagnosis without a correct rationale.

CATRAM: An Apparatus for the Optical Characterization of Advanced Transparent Materials.

At the Transparent Materials Laboratory of the Italian Agency for Energy, New Technologies and Environment, the characterization of advanced transparent materials (CATRAM) facility permits the optical characteristics of transparent advanced materials to be evaluated, a procedure for which spectrophotometers are not adequate. The CATRAM facility is based mainly on a large-diameter integrating sphere to perform transmittance, reflectance, and absorptance measurements. We describe the measurement procedures and verify the reliability of the facility by comparing the results obtained for several samples with those from other laboratories. Furthermore, some system implementations for improvement of accuracy are discussed.

Trisomy 4 in acute nonlymphocytic leukemia. Report of two cases and review of the literature.

Two patients with M2 subtype of acute nonlymphocytic leukemia (ANLL) and trisomy 4 as a primary karyotype change are described. The abnormality was observed in 100% of bone marrow (BM) metaphases in both cases. It appeared alone in one case and was associated with trisomy 13 in 94% of metaphases in the other. These are the second and third cases of ANLL with trisomy 4 documented in Italy. Neither patient appears to have incurred any environmental or therapeutic insult.

In vitro bone marrow cell culture and cytogenetic analysis in a case of myelodysplasia.

A case of refractory anemia with sideroblastosis and a number of bone-marrow blasts slightly over the limit which separates the I/II and III FAB-subtypes of myelodysplastic syndromes is described. The leukemic-like type of in vitro growth and the multiple karyotypic changes observed in the bone-marrow cells at presentation were both indicators of the malignant nature of the disorder and underlined the importance of these studies in assessing diagnosis and prognosis in patients with preleukemic disorders. The role that the chromosome aberrations, del(11)(q14) and del(18)(q21), both found in 100% of the bone-marrow metaphases examined, may play in the pathogenesis of the disease is also discussed.

Bacterial infection and peripheral vascular disease.

Whole blood filterability was monitored in 16 nondiabetic peripheral vascular disease (PVD) patients within forty-eight hours of onset of bacterial infection, after ten to seventeen days antibiotic therapy and again, ten days later, after convalescence. The whole blood filterability rate was constantly disturbed before infection in these patients; the impairment worsened significantly (as was expected during infection), but after convalescence the whole blood filterability rate did not return to preinfection levels. This further significant impairment in whole blood filterability was inversely correlated with a reduction in the patients' pain-free walking time as determined by a standard treadmell test performed after convalescence and compared with their average times before infection.

[Infection and blood filterability]. / Infezione e filtrabilità del sangue.

Some markers of inflammation were monitored, and whole blood filterability was measured using a low shear positive pressure nuclepore filtration system in 21 patients at the onset of an acute bacterial infection and again after full clinical recovery 4 weeks later and compared to the filterability of 40 matched healthy controls. Impairments in whole blood filterability persisted even after convalescence.

Antimitochondrial autoantibodies in myocardial hypertrophy: comparison between hypertrophic cardiomyopathy, hypertensive heart disease, and athlete's heart.

Antimitochondrial autoantibodies (AMA) were tested by indirect immunofluorescence in three groups of subjects with different types of myocardial hypertrophy: 35 patients affected with hypertrophic cardiomyopathy (HC), 20 patients with cardiac hypertrophy secondary to essential hypertension, and 35 active endurance athletes with exercise-induced left ventricular hypertrophy. Forty-two healthy subjects served as a control group. Left ventricular hypertrophy was considered a left ventricular mass (LVM) echocardiographically calculated (Devereux formula), exceeding 244 gm or a LVM index exceeding 122 gm/m2 (greater than 2 SD from a previously studied normal population). AMA were found in 15 of 35 (43%) patients with HC and in 6 of 20 (30%) patients with hypertensive heart disease (p less than 0.01); in contrast, AMA were not present in the sera of athletes or in the sera of controls. Although the significance of AMA in subjects with pathologic myocardial hypertrophy has not yet been established, their absence in the sera of athletes strengthens the opinion that cellular changes, as a compensatory response of the myocardium to a work overload, have a physiologic fashion in these cases. Moreover, identification of AMA in the sera of athletes with disproportionate severe left ventricular hypertrophy of uncertain origin may be helpful to ensure a single diagnosis.

Equivocal and borderline myocardial hypertrophy in relatives of patients with hypertrophic cardiomyopathy: possible implications in genetics of the disease.

To determine the occurrence of familial and sporadic forms of hypertrophic cardiomyopathy (HC) 74 first-degree relatives of 21 patients with proven HC were studied by M-mode and two-dimensional echocardiography. A diagnosis of HC was made in 11 relatives (15%) while it was excluded in 61 of them (82%); 2 subjects (3%) were considered neither affected nor unaffected (borderline left ventricular hypertrophy suggestive of HC). Inspection of pedigrees revealed 38% of familial forms of HC with an autosomal dominant pattern of inheritance in 5/8 families (62%). Furthermore, among those relatives judged unaffected by means of full echocardiographic criteria for HC, an attempt was made to find out whether minor changes of left ventricular geometry were present for their possible implications in genetics of HC (latent or potential forms, low phenotypic expression of the disease). Eleven out of 61 unaffected relatives had a left ventricular wall thickness radius ratio greater than 0.50 (equivocal hypertrophy), a value that was higher than two standard deviations of the control group. Assessment of clinical significance of borderline and equivocal hypertrophy in relatives of patients with HC is required for a better understanding of genetic transmission of this disease. In this view the occurrence of sporadic and familial forms of HC might be revisited.