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C Matthias

Publications and source records attributed to C Matthias.

At least 19 recordsLinked to original sources
PubMed2007

[Isolated apical petrositis: an atypical case of Gradenigo's syndrome].

In 1904 Guiseppe Gradenigo described an infection of the apex of the petrous part of the temporal bone from acute otitis media with the clinical symptoms of unilateral pain around the eye, diplopia due to sixth nerve paralysis and persistant otorrhea. While this infection became evident by inward extension from petrositis in the majority of fatal cases from acute otitis media in the preantibiotic era, it has now become very rare. Today, cases mainly derive from cholesteatomas or chronic osteomyelitis of the petrous bone. However, due to intense antibiotic treatment in acute otitis media clinical signs of petrositis may be less typical compared to former times. We report on a 12-year-old boy with rapid onset of sixth nerve paralysis without clinical signs of acute otitis media or mastoiditis. CT and NMR imaging confirmed infection of the petrous apex. He was treated by mastoidectomy with exploration of a posterior cell group from the epitympanon around the semicircular canals and subsequent high dose intravenous antibiotics. The patient recovered without any loss of inner ear or facial nerve function. The paralysis of the sixth nerve disappeared completely within 6 weeks.

Abducens Nerve Diseases↗
PubMed2006

Molecular characterization of the tumor-associated antigen AAA-TOB3.

In search for new valuable tumor-associated antigens using the AMIDA technique, we identified the KIAA 1273-AAA-TOB3 protein. KIAA 1273 and AAA-TOB3 were considered synonyms for the atad3B gene product. We show that the atad3b gene encodes two distinct proteins, both overexpressed in head and neck carcinomas and required for correct cell division. Both products differ within the N terminus, are generated upon distinct transcription initiation sites, and have been termed AAA-TOB3s and AAA-TOB3l. Both isoforms are early targets of c-myc and are located in mitochondria. A previous report suggested pro-apoptotic properties of the murine homolog of AAA-TOB3l. Here, we did not observe any pro-apoptotic effects in human cell lines, overexpressing h-AAA-TOB3s or h-AAA-TOB3l. By contrast, the specific knock-down of both mRNAs resulted in polynuclear cells and decreased proliferation, along with dysfunctional cell division followed by increased apoptosis. Thus, the present data suggest a role for AAA-TOB3s/l in tumor progression.

Amino Acid Sequence↗
PubMed2006

[Susac's syndrome. A rare microangiopathy of cochlea, retina, and brain].

Susac's syndrome is a rare disease characterized by encephalopathy, retinal artery occlusion, and a sensorineural hearing loss. Diagnosis may be difficult since most specialists are not familiar with this angiopathy. However, the typical symptom complex can mimic different pathologies, therefore requiring the attention of radiologists, ENT specialists, and ophthalmologists. We present a rare case of Susac's syndrome unveiled by audiometry results, MR imaging of the brain, and the ophthalmological findings..

Adult↗
PubMed2006

Paediatric paranasal sinus mucoceles.

Mucoceles of the paranasal sinuses are extremely rare in children and adolescents and most cases described in the literature are associated with cystic fibrosis. The condition is potentially dangerous but frequently diagnosed late or inaccurately due to its non-specific symptoms or to an absence of inflammation parameters or other clinical signs. We present 3 children with mucoceles (sphenoid sinus n = 2, ethmoid sinus n = 1) in whom cystic fibrosis was discounted and who were managed in our medical centre during the last 3 years. No aetiological factor was identified in the 2 cases of sphenoid mucocele. The main symptom in these two patients was therapy-resistant cephalgia which shifted location and varied in intensity. One child had had recurrent sinus infection which was a possible aetiological factor of the ethmoidal mucocele. All patients successfully underwent endoscopic sinus surgery. During a 2-year follow-up, all patients have remained free of symptoms and no mucocele recurrence has been observed so far. The rareness of paranasal sinus mucoceles in children, in particular its sphenoid occurrence, coupled with its relatively non-specific symptomatology prompted the authors to outline and discuss the aetiological factors, clinical findings, and therapy and to review the literature.

Adolescent↗
PubMed2005

[Early detection and prevention of carcinomas of the oral cavity and phraynx].

The stepwise development of cancer of the head and neck over a period of several decades opens up a wide window of preventive intervention options. Although chemoprevention (for example with retinoids and COX-2 inhibitors) is possible, in terms of side effects and long-term outcomes it is not as successful as was hoped. Currently, natural substances, which in particular are characterized by an absence of side effects, are undergoing clinical trials.

Carcinoma in Situ↗
PubMed2004

[Chronic otitis media].

In the presence of persistent or recurrent otorrhea with or without hearing impairment, a chronic infection of the middle ear should be suspected. Otoscopy is performed to distinguish between the less serious central perforation of the tympanic membrane and the peripheral bone-eroding infection, cholesteatoma. The diagnosis is purely clinical. Prior to an operation, a hearing test, radiography of the mastoid air cells and treatment of any infection are a must. Central perforation of the tympanic membrane is a relative indication for surgery, while in the case of a cholesteatoma complete removal of the process is mandatory to avoid potentially serious complications. Reconstruction of the ossicles takes second place in importance to complete removal of the cholesteatoma. All patients with this condition--in particular children--should be kept under surveillance over the long term.

Adult↗
PubMed2003

[First results on the influence of polymorphisms at glutathione S-transferase, cytochrome P450, and tumor necrosis factor gene loci on the development of multiple head and neck cancer].

BACKGROUND: The polymorphic gene loci of the detoxifying enzymes GST and CYP are susceptibility factors for single head and neck cancer. In patients with multiple cancer development a cumulation of genetic risk factors can be assumed. METHODS: Accordingly, we have examined genotype frequencies at GSTM1, GSTT1, GSTM3, GSTP1, CYP2D6, CYP1A1, CYP2E1, and TNF loci, in patients with single and multiple squamous cell carcinoma (SCC) of the head and neck, and controls. RESULTS: GSTT1 0 was increased in multiple SCC patients (36.8 %) compared with single SCC patients (21.2 %) and controls (22.2 %). GSTM3 AA was more frequent in the single SCC patients (76.6 %) and multiple SCC patients (82.1 %) compared with controls (66.5 %) but lacked significance. The TNF allele B3 was significantly increased in the single SCC group (B3-allele: 22.5 %, B3/B3 : 10.8 %) and showed a further cumulation in the multiple SCC group (B3 : 30.3 %, B3/B3 : 15.8 %). CONCLUSIONS: Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.

Adult↗
PubMed2002

[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer].

BACKGROUND: The polymorphic gene loci of the detoxifying enzymes GST and CYP are susceptibility factors for head and neck cancer. Recently, they have been associated with outcome in several cancers. METHODS: Accordingly, we have examined, in patients with squamous cell carcinoma (SCC) of the head and neck, associations between GSTM1, GSTT1, GSTM3, GSTP1, CYP2D6, CYP1A1 and CYP2E1 genotypes and outcome parameters, tumor extension, histological grade, presence of lymph nodes, and recurrence free survival over 5 years. Genotypes were determined by PCR; logistic regression and a step-wise model were used to investigate the influence of the individual genes. RESULTS: GSTT1 0 was associated with T3/T4 tumor lesions in the pharynx and oral cavity (p = 0.029), but not laryngeal SCC cases. GSTT1 0 was also associated with histological differentiation (G3) in the oral cavity /pharynx, but not laryngeal SCC cases, although this association only approached significance (p = 0.069). CYP2D6 PM and HET were associated with lymph node involvement in the laryngeal SCC cases. CONCLUSIONS: The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.

Carcinoma, Squamous Cell↗
PubMed2001

Cyclin D1 polymorphism and expression in patients with squamous cell carcinoma of the head and neck.

We have previously reported that the cyclin D1 (CCND1) GG870 genotype was associated with poorly differentiated tumors and reduced disease-free interval in patients with squamous cell carcinoma of the head and neck (SCCHN). We have now examined the association of this and a second CCND1 polymorphism with gene expression and outcome in SCCHN patients. Analysis of a CCND1 G/C1722 polymorphism revealed that CCND1 CC1722 genotype was associated with poorly differentiated tumors [P = 0.005; odds ratio (OR), 5.7; 95% CI, 1.7 to 19.2), and reduced disease-free interval (P = 0.003; Hazard Ratio (HR), 7.3; 95% CI, 1.1 to 27.2.) independently from the influence of CCND1 GG870 genotype. Patients whose tumors were negative for cyclin D1 were associated with reduced disease-free interval (P = 0.028; HR, 4.1; 95% CI, 1.4 to 14.2). Although G/C1722 genotypes were not associated with expression, we found a significant trend between reduced expression of cyclin D1 in patients with the CCND1 GG870 genotype (P = 0.04). Splicing of CCND1 mRNA in head and neck tissues was modulated by CCND1 A/G870 alleles, thus CCND1 transcript a was spliced equally from CCND1 A870 and G870 alleles, whereas CCND1 transcript b was spliced mainly from the CCND1 A870 allele. Our analysis has also identified differences in cyclin D1 genotype and protein expression and the pathogenesis of SCCHN in males and females. Thus, CCND1 CC1722 genotype was more common in female patients (P = 0.019; OR, 3.3; 95% CI, 1.3 to 10) and cyclin D1 expression was more frequent (chi-square1, 3.96; P = 0.046) and at higher levels (P = 0.004) in tumors from female patients. In summary, our data show that the two CCND1 polymorphic sites are independently associated with tumor biology and clinical outcome. CCND1 A/G870 alleles affect gene expression in head and neck tissues. We also provide preliminary evidence that the molecular genetics of SCCHN development may be influenced by patient gender.

Alleles↗
PubMed2001

[Influence of genetic variation in the major histocompatibility complex on head and neck cancer susceptibility].

BACKGROUND: While cigarette smoking and alcohol consumption are risk factors for squamous cell carcinomas (SCC) of the head and neck, genetic factors are also significant. The gene of tumor necrosis factor (TNF) is located in the major histocompatibility complex class III and the cytokine has pleiotropic actions some of which are anticarcinogenic. As this gene complex is polymorphic with microsatellite markers identified it is a further candidate for head and neck cancer susceptibility. METHODS: We used a case-control approach to study the influence of polymorphism at the A-D markers on susceptibility in 113 controls, 265 laryngeal and 123 oral cavity/pharyngeal SCC cases. Genotypes were identified on polyacrylamide gels in an automated DNA sequencer after amplification with fluorescently-labeled primers. RESULTS: We found no differences in allele frequencies between controls and oral cavity/pharyngeal SCC cases but the frequency of B3 was greater in the laryngeal SCC cases than controls (p = 0.004, odds ratio 2.8). Homozygosity for B3 conferred an increased risk of laryngeal cancer compared with controls (p = 0.021, odds ratio 10.8). CONCLUSIONS: The data provide the first evidence that allelism at MHC class III microsatellite markers is associated with risk to laryngeal SCC.

Aged↗
PubMed2000

Genetic polymorphism and clinical outcome: identification of individuals at risk of a poor clinical outcome.

Susceptibility and outcome in complex disorders such as asthma and cancer appear to be determined, at least in part, by genetic polymorphism. However, while our ability to identify new allelic variants and study them in case and control populations has greatly improved, considerable difficulties remain in elucidating how many genes determine particular clinical phenotypes. This is because most studies have concentrated on study of single genes in relatively small study groups. The important issues of gene-gene interactions (epistasis) and high-risk subgroups have not yet been adequately addressed. We now describe a general approach, using patients with head and neck cancers as an example. Our purpose is to demonstrate candidate gene selection, statistical approaches, and identification of patient subgroups.

Genetic Predisposition to Disease↗
PubMed1999

[Genetic predisposition for the development of head and neck carcinomas].

BACKGROUND: While cigarette smoking and chronic alcohol consumption are the major risk factors for the development of head and neck cancer, it is assumed that genetic factors contribute to risk. Glutathione-S-transferase GSTM1 AB, GSTM3 BB and GSTP1 AA as well as TNF genotypes were determined from leucocyte DNA in 392 patients with head and neck carcinoma and 216 controls, with added immunohistochemical studies. Comparative genomic hybridization was used to screen for genetic alterations in the tumor tissue. RESULTS: While the frequency of GSTM1 AB was significantly lower in all head and neck carcinomas compared with controls, GSTM3 BB was significantly lower in the laryngeal and GSTP1 AA in the oral cavity/pharyngeal carcinoma cases; the frequency of the TNFb3 allele was higher in the laryngeal cases. Chromosomal alterations were specific for head and neck carcinomas, differing both in well differentiated and undifferentiated and in metastasizing and non-metastasizing tumors. CONCLUSIONS: Allelism at GST gene loci mediates susceptibility to head and neck carcinomas: GSTM1 AB is associated with a lower risk for all head and neck carcinomas, GSTM3 BB only for laryngeal carcinomas and GSTP1 AA only for oral cavity/pharyngeal carcinomas. The TNFb3 allele was significantly more frequent in laryngeal cancer patients. The genetic alterations in the tumor tissue are in line with the "tumor progression model". Genetic conditions are important from the first exposure with carcinogens up to late genetic events in the tumor tissue.

Alcohol Drinking↗
PubMed1999

[Immunohistologic and molecular genetic studies of the effect of glutathione-S-transferases on the development of squamous epithelial carcinomas in the area of the head-neck].

BACKGROUND: While cigarette smoking and alcohol consumption are the major risk factors for the development of head and neck carcinomas, it is assumed that genetic factors contribute to risk. The aim of this study was to characterize the influence of the carcinogen metabolizing glutathione-S-transferases on susceptibility to head and neck carcinomas. PATIENTS AND METHODS: Polymorphisms at GSTM1, M3, T1 and P1 gene loci were determined in 398 head and neck cancer patients and 216 controls using polymerase chain reaction and restriction enzyme digestion. The epithelial distribution of the GSTs was determined by immunohistochemical methods. RESULTS: The GSTM1 A/B genotype was less frequent in all tumor groups compared with controls. The GSTM3 B/B genotype was reduced only in the laryngeal cancer group whereas GSTP1 A/A showed significant differences between pharyngeal cancer patients and controls. Accordingly, GSTM3 was expressed only in the cilia of the laryngeal respiratory epithelium. In contrast, GSTP1 was distributed throughout all outer layers of the squamous cell epithelium. CONCLUSIONS: While GSTM1 seems to influence susceptibility to all head and neck cancers, GSTM3 and P1 reflected site-specific differences. Thus GSTM3 appears to be associated with altered risk only to laryngeal cancer whereas GSTP1 is likely to influence pharyngeal cancer risk.

Adult↗
PubMed1999

Influence of ozone and nitrogen dioxide on histamine and interleukin formation in a human nasal mucosa culture system.

There is evidence that asthma and other allergic diseases are increasing and air pollution has been considered an important contributing factor to this observation. Using a specially designed organ culture system, we examined the influence of ozone (0.06 to 0. 2 ppm) and nitrogen dioxide (NO2, 200 and 800 micrograms/m3) on nasal mucosa exposed for 24 h. Tissue was obtained from 105 patients undergoing surgical therapy (septoplasty and reduction of the inferior turbinates) for chronic nasal obstruction. The histamine content in the culture medium of ozone- and NO2-exposed samples was significantly elevated compared with the control cultures. This elevation was correlated with the number of degranulated mast cells in the tissue determined by histomorphometry (P < 0.001). Moreover, the cytokines interleukin (IL)-1beta (P < 0.05), IL-6 (P < 0.01), IL-8 (P < 0.001), and tumor necrosis factor-alpha (TNF-alpha, P < 0. 001) were significantly increased (ozone 0.1 ppm). Furthermore, we found significant increases in the release of IL-4, IL-6, IL-8, and TNF-alpha of ozone-exposed (0.1 ppm) samples of atopic versus nonatopic patients and to a lesser extent for histamine following exposure to 0.15 ppm ozone. These results indicate that low ozone concentrations and NO2 lead to an inflammation of human nasal mucosa in vitro and that priming factors such as atopy or preexisting inflammation do increase the sensitivity to ozone and NO2. This organ culture system proved to be a good experimental design for studying pathophysiologic alterations of human nasal mucosa under different experimental conditions (e.g., air pollutants).

Culture Media↗
PubMed1999

Cyclin D1, glutathione S-transferase, and cytochrome P450 genotypes and outcome in patients with upper aerodigestive tract cancers: assessment of the importance of individual genes using multivariate analysis.

GST, CYP, and CCND1 genotypes have been associated with outcome in several cancers. Accordingly, we have examined, in patients with one squamous cell carcinoma (SCC) of the head and neck, associations between GSTM1, GSTT1, GSTM3, GSTP1, CYP2D6, CYP1A1, CYP2E1, and CCND1 genotypes and the outcome parameters, tumor extension, histological grade, and presence of nodes. We used logistic regression to study, first, each gene individually and, second, in a step-wise model that included all of the genes. Different genes were associated with each outcome parameter. Thus, GSTT1 null was associated with T3/T4 lesions in the oral cavity/pharyngeal (P = 0.029), but not laryngeal, SCC cases. GSTT1 null was also associated with histological differentiation (G3) in the oral cavity/pharyngeal, but not laryngeal, SCC cases, although this association only approached significance (P = 0.069). CCND1 GG was associated with G3 tumors in the oral cavity/pharyngeal (P = 0.011), but not laryngeal, SCC cases. The combination of GSTT1 null/CCND1 GG was also associated with G3 tumors. CYP2D6 PM and HET were associated with lymph node involvement in the laryngeal, but not oral/pharynx, SCC cases. Genes that were individually associated with outcome were also associated with the parameter in the step-wise routine. The GSTT1 null frequency was greater in 39 patients with second primary tumors than in those with one lesion (P = 0.014). The data demonstrate site-dependent associations between GSTT1 null, CCND1 GG, and CYP2D6 PM and tumor extension, differentiation, and nodes.

Carcinoma, Squamous Cell↗
PubMed1998

[Effect of gene polymorphism on detoxifying glutathione-S-transferase enzymes on chromosomal stability of squamous epithelial carcinomas in the area of the head-neck].

BACKGROUND: While cigarette smoking and chronic alcohol consumption are the major risk factors for the development of head and neck cancer, it is assumed that genetic factors contribute to risk. MATERIAL AND METHODS: We examined genotype frequencies from leukocyte DNA of 269 laryngeal cancer patients, 123 pharyngeal cancer patients and 216 controls. Polymorphisms at different glutathione-S-transferase (GST) gene loci were investigated. Losses of heterozygosity (LOH) at 12 different chromosomal gene loci were determined in 37 of the study patients by comparing blood and tumor cell DNA. The relationship between high risk genotypes and the occurrence of LOH was investigated. RESULTS: Glutathione-S-transferase high risk genotypes were identified at the first and third genes of the M family (GSTM1, GSTM3) and the first gene of the P family (GSTP1). These high risk genotypes are seen to have a statistically significant influence on the occurrence of LOH in the tumor tissue. CONCLUSION: There is evidence that the polymorphisms studied play a role in the carcinogenic process by influencing the chromosomal fragility which may lead to the inactivation of tumor suppressor genes or the activation of oncogenes.

Alcohol Drinking↗