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Biomedical subjects

P Muller

Publications and source records attributed to P Muller.

At least 199 records · Page 11Linked to original sources
PubMedDate not supplied

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

A gene responsible for autosomal dominant non-syndromic hearing impairment in two families (DFNA8 and DFNA12) has recently been identified as TECTA encoding alpha-tectorin, a major component of the tectorial membrane. In these families, missense mutations within the zona pellucida domain of alpha-tectorin were associated with stable severe mid-frequency hearing loss. The present study reports linkage to DFNA12 in a new family with autosomal dominant high frequency hearing loss progressing from mild to moderate severity. The candidate region refined to 3.8 cM still contained the TECTA gene. A missense mutation (C1619S) was identified in the zonadhesin-like domain. This mutation abolishes the first of the vicinal cysteines (1619Cys-Gly-Leu- 1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat. These results further support the involvement of TECTA mutations in autosomal dominant hearing impairment, and suggest that vicinal cysteines are involved in tectorial membrane matrix assembly.

Extracellular Matrix Proteins↗
PubMedDate not supplied

Anticipatory stress reduction among chronic pain patients.

Stress has long been viewed as a contributor to the pain experienced by chronic pain patients. The purpose of this research was to study the relationship between anticipated and experienced stress and anticipated and experienced pain levels among three patient groups: chronic pain patients, patients about to receive molar extraction (acute pain group), and a no-pain comparison group. Results showed that chronic pain patients anticipated significantly more stress than did an acute pain or a non-pain comparison patient group but reported non-significant differences in the actual level of stress experienced. A secondary purpose of this study was to examine cognitive factors, such as perceived daily hassles, which may contribute to this increased anticipatory stress. Results showed that there was consistency among the chronic pain patients as to the types of anticipated stressors, which were similar to those previously reported by chronic headache sufferers. The chronic pain group had significantly higher scores than the two remaining groups on the stress they anticipated from hassles related both to practical considerations (F2.45 = 3.5, p < 0.05) and to health (F2.45 = 9.37, p < 0.001). Strategies the dentist can use in combination with dental therapy to reduce cognitive-based anticipatory stress as well as strategies for collaboration with the patient and a mental health therapist are discussed.

Adaptation, Psychological↗
PubMedDate not supplied

Functional characterization of the mouse lymphotoxin-beta receptor promoter.

The lymphotoxin beta-receptor (LT beta R), a member of the tumor necrosis factor (TNF) receptor family, plays a crucial role in lymphoid organogenesis by signaling through its functional ligand LT alpha(1)beta(2). While the receptor is expressed on a wide range of cell types e.g. fibroblasts and monocytes, the ligand is expressed only on activated T, B and NK cells. Remarkably, no cell type has been identified so far that expresses both the receptor and the ligand. In order to characterize the mouse LT beta R gene expression on a molecular level, we isolated about 1 kb of the 5' flanking region of the LT beta R gene. Primer extension analysis revealed one transcriptional start site located at - 60 upstream of the ATG-containing first exon. Northern blot analysis showed that the LT beta R is abundantly expressed in the mouse fibroblast cell line NIH 3T3, and to a lesser extent, in the mouse macrophage-like cell line RAW 264.7. To determine whether the 5' flanking region exerts functional promoter activity, we generated deletion mutants fused to the luciferase reporter gene. Transfection experiments using these reporter gene constructs showed that the isolated 5' flanking region is transcriptionally active in NIH 3T3 and RAW 264.7 cells, and determined a minimum length required for the transcriptional activity of the LT beta R promoter in these cells. Further sequence analysis of the isolated 5' flanking region identified a number of putative DNA-binding sites for transcription factors. Interestingly, incubation of NIH 3T3 cells with dexamethasone resulted in an elevated mRNA level of the LT beta R gene. This effect was abolished by using the specific glucocorticoid receptor inhibitor RU486, indicating an increased transcriptional activity of the LT beta R promoter after glucocorticoid stimulation.

3T3 Cells↗
PubMedDate not supplied

[Leprosy in Guadeloupe (French West Indies): declining disease, increasing diagnosis delay].

INTRODUCTION: Endemic for nearly three centuries, leprosy is declining in Guadeloupe: its prevalence has decreased by 75 p. 100 over the last decade. Because it has become rare, it may well be overlooked. PATIENTS AND METHODS: Retrospective study of all the new cases of leprosy diagnosed in Guadeloupe from May 1996 to May 2001. RESULTS: In 10 cases of the 41 reported in this study, diagnosis had been delayed by more than 6 months. Nine of these 10 cases presented with classical clinical signs. The mean delay before diagnosis in these 10 cases was of 22 months (range: 7-36 months); the mean number of consultations with a physician before the final diagnosis was of 3.2 (range: 2-8). The mean age at the time of diagnosis in patients in whom diagnosis was delayed was significantly greater than those in whom diagnosis was confirmed rapidly (55 vs. 37 years). DISCUSSION: In Guadeloupe, one patient out of 4 presenting with leprosy is diagnosed with a delay of more than 6 months, despite a classical clinical presentation. This is deleterious to the patients and health economics. The patients in whom diagnosis was delayed were older. This epidemiological tendency appears inherent to this form of "residual leprosy". The present rareness of the disease is responsible for a lack of knowledge of the disease by the physicians through lack of experience. This phenomenon is also observed for syphilis and measles. There is a real risk of underestimation or erroneous diagnosis.

Adolescent↗