Search PubMed⌕ Search

Biomedical subjects

C Herberhold

Publications and source records attributed to C Herberhold.

At least 19 recordsLinked to original sources
PubMed2005

Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome.

In the present study we assessed the prevalence and nature of hearing loss in patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) due to single large-scale mitochondrial DNA (mtDNA) deletion or mtDNA tRNA (Leu (UUR)) A3243G point mutation (A3243G PM). 14 patients with mtDNA deletion and three patients with A3243G PM underwent audiological evaluation comprising pure-tone and speech audiometry as well as transient evoked otoacoustic emissions (OAE). Audiological evaluation revealed hearing impairment in 10/17 patients. Hearing loss was mild to moderate predominantly affecting high frequencies in five patients with subjective hearing problems (three patients with mtDNA deletions, two patients with A3243G PM). Subclinical hearing deficits restricted to high frequencies were seen in further five asymptomatic patients (four patients with mtDNA deletions, one patients with A3243G PM). Audiological findings suggested a cochlear origin of hearing loss in all subjects. Our results demonstrate that CPEO or KSS patients due to mtDNA deletion or A3243G PM are at high risk of developing sensorineural hearing deficits.

Adult↗
PubMed2004

[Development of a database system for multicentric ENT tumor documentation].

BACKGROUND: Multicentric clinical studies have a great impact on progress in diagnostics and therapy in oncology. However, multicentric retrospective clinical trials require a common documentation standard. METHODS: A network enabled tumor documentation program based on a relational database system was developed for the management of multicentric clinical studies. This system is designed for the documentation of treatment and follow-up. CONCLUSION: The use of a computer-supported documentation system minimizes documentation effort and error frequency. However, communication with cancer registries is still an unsolved problem.

Clinical Trials as Topic↗
PubMed2001

Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.

Tobacco use is causally associated with head and neck squamous cell cancer (HNSCC). Here, we present the results of a case-control study that investigated the effects that the genetic variants of the cytochrome (CYP)1A1, CYP1B1, glutathione-S-transferase (GST)M1, GSTT1, and GSTP1 genes have on modifying the risk of smoking-related HNSCC. Allelisms of the CYP1A1, GSTT1, GSTM1, and GSTT1 genes alone were not associated with an increased risk. CYP1B1 codon 432 polymorphism was found to be a putative susceptibility factor in smoking-related HNSCC. The frequency of CYP1B1 polymorphism was significantly higher (P < 0.001) in the group of smoking cases when compared with smoking controls. Additionally, an odds ratio (OR) of 4.53 (2.62-7.98) was discovered when investigating smoking and nonsmoking cases for the susceptible genotype CYP1B1*2/*2, when compared with the presence of the genotype wild type. In combination with polymorphic variants of the GST genes, a synergistic-effect OR was observed. The calculated OR for the combined genotype CYP1B1*2/*2 and GSTM1*2/*2 was 12.8 (4.09-49.7). The calculated OR for the combined genotype was 13.4 (2.92-97.7) for CYP1B1*2/*2 and GSTT1*2/*2, and 24.1 (9.36-70.5) for the combination of CYP1B1*2/*2 and GSTT1-expressors. The impact of the polymorphic variants of the CYP1B1 gene on HNSCC risk is reflected by the strong association with the frequency of somatic mutations of the p53 gene. Smokers with susceptible genotype CYP1B1*2/*2 were 20 times more likely to show evidence of p53 mutations than were those with CYP1B1 wild type. Combined genotype analysis of CYP1B1 and GSTM1 or GSTT1 revealed interactive effects on the occurrence of p53 gene mutations. The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.

Alleles↗
PubMed2001

Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.

To assess dysphagia, the authors examined 12 patients with Kearns-Sayre syndrome (KSS) or chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) deletion by videofluoroscopy and manometry. Cricopharyngeal achalasia was documented in nine of 12 patients (75%), whereas deglutitive coordination problems were found in one patient. Cricopharyngeal myotomy may be an effective treatment in selected cases with severe cricopharyngeal obstruction.

Adult↗
PubMed2001

Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.

Mutations in the human GJB3 gene that codes for Connexin31 (Cx31), a protein subunit of gap junction channels, have recently been reported to cause deafness and the skin disorder erythrokeratodermia variabilis. To study the function of this gene in mice, we generated animals with targeted replacement of the Cx31 gene (Gjb3) by a lacZ reporter gene. Although homozygous Cx31-deficient adult mice (Gjb3(-/-)) were found among the offspring of heterozygous Cx31-deficient parents (Gjb3(+/-)), 60% of the animals expected according to Mendelian inheritance were lost between ED 10.5 and 13.5. Placentas of Gjb3(-/-) embryos at ED 9.5 were smaller than controls as a result of severely reduced labyrinth and spongiotrophoblast size. From ED 10.5 onward, placentas of surviving Gjb3(-/-) embryos recovered progressively and reached normal size and morphology by ED 18.5. This corresponds to a time period in which another connexin isoform, Connexin43, is upregulated in spongiotrophoblast cells of Cx31-deficient and control placentas. No morphological or functional defects of skin or inner ear were observed in surviving adult Gjb3(-/-) mice. We conclude that Cx31 is essential for early placentation but can be compensated for by other connexins in the embryo proper and adult mouse.

Alleles↗
PubMed2001

Real-time PCR analysis of the N-acetyltransferase NAT1 allele *3, *4, *10, *11, *14 and *17 polymorphism in squamous cell cancer of head and neck.

Although tobacco smoke has been established as a main risk factor in the development of head and neck squamous cell cancer (HNSCC), genetic polymorphisms of xenobiotic metabolizing enzymes are supposed to modulate an individual's susceptibility to smoking-related HNSCC. N-acetyltransferase (NAT) 1 gene is known to be polymorphic and its protein product is implicated in the activation and detoxification of carcinogens, such as aromatic amines, present in tobacco smoke. We developed a rapid and reproducible LightCycler-assisted real-time polymerase chain reaction (PCR) for NAT1 genotyping, which allowed the parallel differentiation of NAT1*3, *4, *10 and *11 alleles and separately of NAT1*14 and *17 alleles within 60 min without the need for further post-PCR processing. In order to investigate the role of the NAT1 gene polymorphism as a risk-modifying factor in HNSCC, we tested for the presence of NAT1*3, *4, *10, *11, *14 and *17 alleles in a case-control study of 291 HNSCC patients and 300 healthy controls of Caucasian origin. Our findings suggest that in Caucasians, the risk of HNSCC is not associated with NAT1 polymorphism. The overall distribution of NAT1 allele frequencies was not significantly different among cases and controls. The presence of the fast acetylator NAT1*10 and NAT1*11 alleles did not significantly increase the risk of HNSCC and no modifying effect of NAT1*10 was observed among smokers. This new approach in NAT1 genotyping substantially increases throughput of sample analysis and, therefore, enhances opportunities to study NAT1 as a risk factor in different cancers in large-scale studies.

Acetyltransferases↗
PubMed2000

The role of airway stents in the management of pediatric tracheal, carinal, and bronchial disease.

OBJECTIVE: A variety of stents are available to aid in the management of complex tracheal, carinal and bronchial stenoses. We reviewed our multi-institutional experience with airway stents in children. METHODS: Thirty-three children (age, 13 days-18 years) from four institutions have had a total of 40 stents placed to aid in the management of complex airway stenoses. Three stent types were utilized: 29 silastic stents, five expandable metal stents and six customized carinal stents (four patients had two stents and one patient had four stents). Thirty children had tracheal stents, six children had bronchial stents, and two infants had carinal stents (three children had stenting of more than one area and two had stenting of all three locations). Twenty-eight patients (age, 5 months-18 years; mean, 8.06 years; SEM, 1.13 years) had stents placed after a variety of airway reconstructive procedures. Four underwent stenting in a non-operative setting and one as preoperative stabilization. RESULTS: Twenty-seven patients survived. One patient died early due to bleeding. Five patients died late: two due to bleeding, one from mediastinitis, and two patients with functional airways died late from unrelated problems. Complications are related to stent type and location. Carinal stents can migrate; several techniques are available to help manage this problem. Wire stents are essentially non-removable requiring periodic dilation. Silastic stents stimulate granulation tissue formation requiring periodic bronchoscopic removal. CONCLUSION: Tracheal stenting can aid in the management of pediatric airway problems. Complications are common, but can be managed with appropriate intervention.

Adolescent↗
PubMed2000

[Influence of comorbidity on the prognosis of squamous cell carcinoma in the head and neck].

BACKGROUND: The influence of comorbidity on the healing process and the prognosis of patients with carcinoma of the head and neck region undergoing surgical treatment is not clear. PATIENTS AND METHODS: In a retrospective study we examined the influence of coexistent diseases in 203 patients, hospitalized for curative surgical treatment. Findings on admission, supplemented by medical, anaesthesiological and neurological assessments, helped to form two subgroups: one of patients with minimal comorbidity (n = 135) and one with high comorbidity (n = 68). Subsequently the duration of hospitalization, incidence of complications, disease-free interval and survival was statistically compared. RESULTS: The duration of hospitalization, the incidence and degree of complications, the disease-free interval and the overall survival differed significantly, showing better results in the group with low comorbidity. CONCLUSION: Coexistent, mainly medical, diseases had a significant influence on the results of surgical treatment and prognosis of head and neck cancer.

Carcinoma, Squamous Cell↗
PubMed1999

Tracheal allograft reconstruction: the total North American and worldwide pediatric experiences.

BACKGROUND: We reviewed both the North American and the total worldwide pediatric experience with tracheal allograft reconstruction as treatment for patients with long segment and recurrent tracheal stenosis. METHODS: The stenosed tracheal segment is opened to widely patent segments. The anterior cartilage is resected and the posterior trachealis muscle or tracheal wall remains. A temporary silastic intraluminal stent is placed and absorbable sutures secure the chemically preserved cadaveric trachea. After initial success with this technique in Europe, several North American centers have now performed the procedure. The cumulative North American experience includes 6 patients (3 adults and 3 children). Worldwide, more than 100 adults and 31 children, aged 5 months to 18 years, with severe long segment tracheal stenosis have undergone tracheal allograft reconstruction. RESULTS: In North America, 5 of 6 patients have survived, with one early death due to bleeding from a tracheal-innominate artery fistula in a previously irradiated neck. Worldwide, 26 children survived (26 of 31 = 84%) with follow-up from 5 months to 14 years. Only 1 of 26 pediatric survivors (1 of 26 = 3.8%) had a tracheostomy. CONCLUSIONS: Tracheal allograft reconstruction demonstrates encouraging short- to medium-term results for patients with complex tracheal stenosis. Allograft luminal epithelialization supports the expectation of good long-term results.

Adolescent↗
PubMed1999

In situ measurement of articular cartilage deformation in intact femoropatellar joints under static loading.

The deformational behavior of articular cartilage has been investigated in confined and unconfined compression experiments and indentation tests, but to date there exist no reliable data on the in situ deformation of the cartilage during static loading. The objective of the current study was to perform a systematic study into cartilage compression of intact human femoro-patellar joints under short- and long-term static loading with MR imaging. A non-metallic pneumatic pressure device was used to apply loads of 150% body weight to six joints within the extremity coil of an MRI scanner. The cartilage was delineated during the compression experiment with previously validated 2D and 3D fat-suppressed gradient echo sequences. We observed a mean (maximal) in situ deformation of 44% (57%) in patellar cartilage after 32 h of loading (mean contact pressure 3.6 MPa), the femoral cartilage showing a smaller amount of deformation than the patella. However, only around 7% of the final deformation (3% absolute deformation) occurred during the first minute of loading. A 43% fluid loss from the interstitial patellar matrix was recorded, the initial fluid flux being 0.217 +/- 0.083 microm/s, and a high inter-individual variability of the deformational behavior (coefficients of variation 11-38%). In conjunction with finite-element analyses, these data may be used to compute the load partitioning between the solid matrix and fluid phase, and to elucidate the etiologic factors relevant in mechanically induced osteoarthritis. They can also provide direct estimates of the mechanical strain to be encountered by cartilage transplants.

Adolescent↗
PubMed1999

[Long-term results of homograft reconstruction of the trachea in childhood].

BACKGROUND: The treatment of long-segment tracheal stenosis in children is a biological and operative problem. The introduction of preserved allografts established new possibilities for functional tracheal reconstruction. The development of tracheal dimensions in the course of growing is often discussed. PATIENTS AND METHODS: Since 1983 preserved allografts were used in 20 children with acquired tracheal stenosis. The children ranged in age from 1 to 13 years (average: 7.2 years) when the operation was performed. The children were examined postoperatively at adequate intervals. Radiologic measurements of the tracheal dimensions were performed in some of the patients. RESULTS: Today the treatment of all of these children is complete. Some of them are now adults. None of the children demonstrated breathing problems at the time of the end of treatment or after a variable following-up period ranging from 18 months to 14 years. There was no endoscopic or radiographic evidence of constriction in the growing tracheas. Radiographic measurement of the reconstructed tracheas showed an age-adequate growth in length and a small growth in diameter. CONCLUSION: Functional tracheal reconstruction for long-segment tracheal stenosis can be achieved by implantation of preserved allografts even in the early childhood.

Adolescent↗