Photochemically modified diamond-like carbon surfaces for neural interfaces.

Diamond-like carbon (DLC) was modified using a UV functionalization method to introduce surface-bound amine and aldehyde groups. The functionalization process rendered the DLC more hydrophilic and significantly increased the viability of neurons seeded to the surface. The amine functionalized DLC promoted adhesion of neurons and fostered neurite outgrowth to a degree indistinguishable from positive control substrates (glass coated with poly-L-lysine). The aldehyde-functionalized surfaces performed comparably to the amine functionalized surfaces and both additionally supported the adhesion and growth of primary rat Schwann cells. DLC has many properties that are desirable in biomaterials. With the UV functionalization method demonstrated here it may be possible to harness these properties for the development of implantable devices to interface with the nervous system.

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

BACKGROUND: Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity. Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event. CASE PRESENTATION: We present a child with Apert syndrome in whom routine genetic testing had excluded the FGFR2 missense mutations commonly associated with this disorder. The patient was found to harbour a heterozygous 1372 bp deletion between FGFR2 exons IIIb and IIIc, apparently originating from recombination between 13 bp of identical DNA sequence present in both exons. The rearrangement was not present in the unaffected parents. CONCLUSIONS: Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner. This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation. This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated.

Head and neck squamous cell carcinoma in the young: a spectrum or a distinct group? Part 1.

While most head and neck squamous carcinoma (HNSCC) occurs in older people, an increasing number of young patients are being affected worldwide, with up to 5.5% <40. These are predominantly oral and oropharyngeal cancers. Some patients have heavy exposure to the usual risk factors, but an increasing number do not. Part of this trend appears to be due to rising numbers of HPV associated tonsil carcinoma, particularly in males (smokers and non-smokers). A subset of young patients, however, is non-smoking females usually with tongue cancers, not related to HPV, the aetiology of which is unclear. Various mechanisms may be at work here: the variation in ability to detoxify the products of smoke and alcohol varies in individuals, which may explain why environmental exposure to smoke seems to play a role in some non-smokers with HNSCC. The role of marijuana remains possible but uncertain, and it may be that anaemia is a co-factor. There is an increased risk of HNSCC in first degree relatives of HNSCC patients, and while inherited syndromes associated with HNSCC are rare, elucidation of their genetics may help to develop our understanding the disease in these young patients without recognised risk factors.

Head and neck squamous cell carcinoma in the young: a spectrum or a distinct group? Part 2.

A recent increase in the number of young patients (often nonsmokers) developing head and neck squamous cell carcinoma (HNSCC) has been documented, however, there remains no clear evidence to support the significance of any single determinant. The typical HNSCC arises as a result of a multistep process and the progression model involving multiple genetic and epigenetic events is thought to be relatively consistent. While the progression model itself may be consistent, detection methods used in genomic studies are variable and all have their limitations. This article reviews changes at a molecular level in the typical HNSCC patient (the over 40 year old male smoker) and compares the profile to that of the young adult with HNSCC. Human papillomavirus infection with high risk types 16 and 18 has widely been reported as one of the prominent mechanisms behind the development of oropharyngeal cancer. A review of recent studies in relation to HPV and HNSCC is undertaken in this article, in an effort to examine the role that HPV plays in the development of HNSCC in young adults.

Expression microarray analysis of papillary thyroid carcinoma and benign thyroid tissue: emphasis on the follicular variant and potential markers of malignancy.

The most common sub-variant of papillary thyroid carcinoma (PTC) is the so-called follicular variant (FVPTC), which is a particularly problematic lesion and can be challenging from a diagnostic viewpoint even in resected lesions. Although fine needle aspiration cytology is very useful in the diagnosis of PTC, its accuracy and utility would be greatly facilitated by the development of specific markers for PTC and its common variants. We used the recently developed Applied Biosystems 1700 microarray system to interrogate a series of 11 benign thyroid lesions and conditions and 14 samples of PTC (six with classic morphology and eight with follicular variant morphology). TaqMan(R) reverse transcriptase-polymerase chain reaction was used to validate the expression portfolios of 50 selected transcripts. Our data corroborates potential biomarkers previously identified in the literature, such as LGALS3, S100A11, LYN, BAX, and cluster of differentiation 44 (CD44). However, we have also identified numerous transcripts never previously implicated in thyroid carcinogenesis, and many of which are not represented on other microarray platforms. Diminished expression of metallothioneins featured strongly among these and suggests a possible role for this family as tumour suppressors in PTC. Fifteen transcripts were significantly associated with FVPTC morphology. Surprisingly, these genes were associated with an extremely narrow repertoire of functions, including the major histocompatibility complex and cathepsin families.

Squamous cell carcinoma of the head and neck in young Irish adults.

Classically, squamous cell carcinoma (SCC) of the head and neck is a disease of older adults, but recently there have been reports of an increasing incidence in young people. This study of patients in the Republic of Ireland compares sex distribution, sites, risk factors, stage and grade of tumour, and nodal status of 130 patients with SCC of the head and neck, 30 of whom were less than 40 years old. There was a highly significant association between age, smoking status, and site of tumour. For the first time to our knowledge in a study such as this, the preoperative haematological status of the patients was assessed, and although 15% were anaemic there was no significant difference in the occurrence of anaemia between the younger and the older patients. We think that it is possible that the biology of SCC of the head and neck in young people differs from that in older people.

Rapid growth of giant cell granuloma in pregnancy treated with calcitonin.

The giant cell granuloma of the jaws is a benign osteolytic lesion that may be treated by curettage, intralesional corticosteroids, or calcitonin. These medical treatments may be particularly useful when lesions arise in the immature facial skeleton, recur, or enlarge very rapidly-the last two situations being recognized complications of pregnancy. In this study, a patient is presented with a central giant cell lesion of the maxilla that switched from a relatively indolent growth pattern to become a rapidly enlarging and destructive lesion in the maxilla almost immediately after the patient became pregnant. Although calcitonin treatment is normally avoided in pregnancy, it proved highly effective, caused no obstetric or fetal side effects, and was not contraindicated by renal failure due to lupus nephritis. Histologically, the lesion was converted to a fibro-osseous lesion-like appearance. On the basis of the results of this case, calcitonin appears to be a safe, effective, and conservative treatment for giant cell granulomas that enlarge rapidly during pregnancy.