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Biomedical subjects

A Bozzato

Publications and source records attributed to A Bozzato.

9 recordsLinked to original sources

[Influence of thyroid cartilage ossification in laryngeal ultrasound].

BACKGROUND: Topological features of the larynx and hypopharynx may be depicted during sonographic examination of the neck, although ultrasound is seen of minor diagnostic importance. The varying extend of thyroid cartilage ossification appears to be the major limiting factor. We intended to assess the sonographic accessability of laryngeal structures with high end resolution ultrasound devices. METHODS AND PATIENTS: We examined 101 patients endoscopically and by ultrasound. Normal laryngeal findings and pathologies were examined and analysed considering limitations by thyroid cartilage ossification. RESULTS: Despite varying grades of ossification, the majority of laryngeal structures were clearly displayed by ultrasound. Ossification was increasing in the elderly. In 16 cases (16 %) ossification prevented a successful evaluation. In 9 cases of malignant tumor and one laryngocele sonographic assessment was able to contribute additional diagnostic information. CONCLUSIONS: Ultrasound of the larynx requires methodical experience of the operator but is capable to depict relevant anatomic structures, even with presence of thyroid cartilage ossification, thus being able to increase diagnostic impact and may save additional imaging modalities.

Adult↗

[Digital photography and video archives in ENT].

Digital media have become standard documentation tools in modern ENT clinics. To date, multiple formats are generated by variable data sources. Old fashioned archiving techniques with numerous print-outs, hard copies or even slides would soon generate an unmanageable data flood and require costly manpower for proper and precise maintenance. It has become obvious that data archiving is the prime challenge for modern hospital information technology. Multiple computerized multimedia archives exist and offer promising solutions for collecting and managing these data. From a clinical point of view, not only data centralisation but also interactions with existing network components and hospital information technology systems have to be made available. Here, we describe variable data sources and formats, centralisation techniques, networking options and discuss available digital documentation solutions.

Computer Communication Networks↗

[Submandibular sialoliths. Stone removal with organ preservation].

BACKGROUND: Sialolithiasis as a cause of sialadenitis within Wharton's duct accounts for more than 80% of all cases. In the past extirpation of the gland was carried out in nearly all cases. Gland-preserving therapies such as transoral removal have so far been seldom examined. PATIENTS AND METHODS: In 683 patients suffering from submandibular lithiasis with a mean age of 45 years (8-87 years) transoral removal of the stones were carried out. The follow-up period was 1-7 years. The stone location was distal to the edge of the mylohyoid muscle in 283 cases and more proximal to the gland within the hilum in 296 patients (single concrements). Fifty-nine patients had two separate stones, one within the area of the hilum and other smaller ones proximal within the gland. RESULTS: All patients with distal stone location, 89% of patients with single stones of the perihilar region, and 63% of the patients with two separate stones in the hilum and parenchyma were free of stones. Another 8 and 23%, respectively, had small residual concrements without any complaints. Recurrence of lithiasis or damage of the lingual nerve remained below 1%. CONCLUSION: Transoral removal in palpable sialoliths should be considered as the treatment of choice in patients suffering from submandibular stones located within the floor of the mouth or within the perihilar region of the gland. Ultrasound imaging is important for exact location of the stones.

Adolescent↗

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative lysosomal storage disorder. We studied the subcellular localization of wild-type and three different mutant forms (T232P, F408del and F465L) of mucolipin by expressing Myc-tagged proteins in HeLa cells. The overexpressed wild-type mucolipin colocalizes to late endocytic structures and induces an aberrant distribution of these compartments. F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum. Among the mutants, only F408del induces a redistribution of the late endocytic compartment. These findings suggest that the overexpression of the mucolipin cation channel influences the dynamic equilibrium of late endocytic compartments.

Amino Acid Substitution↗

[Binaural auditory deficit during pregnancy].

Neurological impairment during pregnancy is also commonly found in otorhinolaryngology. Cranial nerve palsy, e.g. of the facial nerve or changes in signal processing of the hearing system, are described. Apart from changes in electrolyte balance, these neurological alterations are attributed to hormone fluctuations. The spontaneous remission of the neurological problems after delivery is frequently reported. This case report presents a 34 year pregnant patient suffering from binaural sensorineural hearing loss and tinnitus in the third trimester. Three weeks after delivery there was a spontaneous remission and a measurable improvement of the audiological findings. Although treatment with cortisone and antibiotics remained without effect, a pharmacological treatment during pregnancy has to be carefully and individually coordinated. An interdisciplinary approach in diagnostic and therapeutic measures together with gynaecologists appears obligatory.

Adult↗

Sialoscopy--initial experiences with a new endoscope.

BACKGROUND: After the introduction of mini-endoscopes for the diagnosis of swelling of the major salivary glands there has been further development of materials and techniques. A new highly flexible semirigid sialoendoscope with high quality imaging (6000 pixels), an outside diameter of 1.1 mm, a working channel of 0.4 mm, and a separate channel for irrigation has been developed and we examined its clinical value. METHODS: We used the endoscope in 22 patients for diagnosis and treatment. RESULTS: Sialoendoscopy was achieved after dilatation of the papilla in all cases. The image (both in contrast and resolution) was excellent. We found sialolithiasis in 13, stenosis in 3, and sialodochitis in 3. Through the working channel we were able to insert instruments with success in seven cases with pathological findings. One patient developed a complication.

Adult↗

Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.

This study reports the characterization of a novel human gene, chromosome 3 open reading frame 6 (C3orf6), mapped to chromosome 3q28, within the critical region of hereditary spastic paraplegia SPG14 locus. Based on computational "spliced" EST alignment and RT-PCR, two C3orf6 transcript variants were identified. The longer C3orf6 transcript contains a 1449-nt ORF, encoding a protein of 482 aa, while the shorter variant contains a 921-nt ORF, encoding for a protein of 306 aa. C3orf6 gene is organised on 12 exons and the shorter transcript comes from an alternative splicing event skipping exon 6. The two mRNA are differentially expressed in brain and in several other human tissues with a predominant level for the shorter transcript. By database analysis, EST assembling and RT-PCR, we identified the transcripts of mouse and rat C3orf6 orthologous genes. The involvement of C3orf6 in the spastic paraplegia was investigated by sequencing all coding exons and flanking sequences in the SPG14 family, excluding the presence of causative mutations.

Alternative Splicing↗

Three-dimensional transcranial color-coded sonography of cerebral aneurysms.

BACKGROUND AND PURPOSE: The role of 2-dimensional transcranial color-coded sonography (2D-TCCS) as a diagnostic tool in cases of vascular alteration is unquestioned. The skill of the operator, however, may be responsible for some intertrial variability. The clinical value of a new, workstation-based, 3D reconstruction system for TCCS was evaluated in patients with intracranial aneurysms. METHODS: Thirty patients with 30 intracranial aneurysms were investigated (8 men, 22 women; mean+/-SD age 54+/-17 years). The TCCS examinations were performed with a 2-MHz probe using the power mode. The 3D system (3D-Echotech, Germany) consisted of an electromagnet, which induced a low-intensity magnetic field near the head of the patient. A magnetic position sensor was attached to the ultrasound probe and transmitted the spatial orientation of the probe to a workstation, which also received the corresponding 2D-images from the video-port of the duplex machine. The echo contrast enhancer D-galactose (Levovist, Schering, Germany) was used in all patients to improve the signal-to-noise ratio. All patients underwent presurgical digital subtraction angiography (DSA) to demonstrate the aneurysm. RESULTS: Twenty-nine of 30 angiographically proven intracranial aneurysms (97%) were detected by 3D-TCCS. The aneurysmal diameter estimated by DSA ranged from 3 to 16 mm (mean 7. 2+/-3.6 mm). A comparison of the 3 main diameters of each aneurysm revealed a correlation coefficient of 0.95 between DSA and 3D-TCCS. The 3D determination of the aneurysmal size by 2 experienced sonographers correlated with 0.96. CONCLUSIONS: 3D-TCCS is a new, noninvasive method to investigate intracranial aneurysms. The differentiation between artifacts and true changes of the vessel anatomy is much easier in 3D-TCCS than in conventional 2D-TCCS. The new method yields an excellent correlation with the gold standard, DSA. Because the same 3D-TCCS data can be postprocessed by different investigators, it may be possible to improve reproducibility and increase the objectivity of transcranial color-coded duplex sonography.

Angiography, Digital Subtraction↗

Rifamycin SV administered by intra-articular infiltrations shows disease modifying activity in patients with pauci- or polyarticular juvenile rheumatoid arthritis.

The therapeutic activity of rifamycin SV administered by the intra-articular route was evaluated in 52 children with juvenile rheumatoid arthritis (oligopolyarthritis). Each active joint was injected once a week for 10 weeks; thereafter patients were followed for 3-48 months. The number of active joints and joints with limitation of motion, the erythrocyte sedimentation rate (ESR) and C-reactive protein improved significantly at the end of the treatment cycle, with progressive improvement during the subsequent period of observation. At 48-month of follow-up, 78% of joints did not present signs of inflammation; and 66% of joints showed no functional limitations. Joints without radiological lesions at baseline and large joints responded best to the rifamycin treatment. Persistent knee effusions were reabsorbed completely in most cases during the treatment and within the first 6 months of follow-up. Recurrences of synovitis were observed in 7% of joints. De novo radiological lesions in initially undamaged joints occurred during the second year of follow-up in only 10% of patients. At 24 months, 62% of patients with oligoarthritis and 24% with polyarthritis showed complete remission in all affected joints and recovered movement in all those joints which had shown limitations at baseline. There was also a normalization of inflammatory indexes (ESR, C-reactive protein) and regression of general features of disease. Further long term studies are now required to confirm these promising preliminary results.

Adolescent↗