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R M Irving

Publications and source records attributed to R M Irving.

At least 37 records · Page 2Linked to original sources
PubMed2000

Positional vertigo as a first symptom of a cerebellopontine angle cholesteatoma: case report.

We report a case of a cerebellopontine angle cholesteatoma whose initial sign was benign paroxysmal positional vertigo (BPPV). Positional vertigo caused by a central pathology is extremely rare and is usually accompanied by other suspicious features. In this case, there were no additional neurotologic symptoms or signs. The only abnormalities were seen on Dix-Hallpike testing, but because they were not consistent with a diagnosis of BPPV, the decision was made to proceed to imaging. Diagnostic rigor is required when evaluating positional vertigo, as with all symptoms of imbalance, if such cases are not to be overlooked.

Adult↗
PubMed1999

Is Ollier's disease an understaging of Maffucci's syndrome?

Ollier's disease and Maffucci's syndrome are similar multiple enchondromatous conditions. Other co-existing pathologies, particularly other primary malignancies, have been described sporadically in both conditions but more so in Maffucci's syndrome. Maffucci's syndrome is distinguished from Ollier's disease by the presence of haemangiomas in the former. In this report, a patient believed to have Ollier's disease for 44 years was subsequently found to have large splenic haemangiomas on magnetic resonance imaging (MRI). In the light of this, we recommend that any patient diagnosed with Ollier's disease to have total body MRI to search for haemangiomas that will alter the diagnosis to Maffucci's syndrome and hence the prognosis. MRI also screens for the presence of other associated malignancies.

Adult↗
PubMed1998

Hearing preservation in patients undergoing vestibular schwannoma surgery: comparison of middle fossa and retrosigmoid approaches.

OBJECT: The goal of this retrospective study was to evaluate hearing preservation after surgery for vestibular schwannoma in which the middle fossa (MF) or retrosigmoid (RS) approaches were used. Hearing preservation in vestibular schwannoma surgery can be achieved by using either the MR or RS approach. Comparative outcome data between these approaches are lacking, and, as a result, selection has generally been determined by the surgeon's preference. METHODS: The authors have compared removal of small vestibular schwannomas via MF and RS approaches with regard to hearing preservation and facial nerve function. The study group was composed of consecutively treated patients with vestibular schwannoma, 48 of whom underwent operation via an MF approach and 50 of whom underwent the same number of RS operations. Tumors were divided into size-matched groups. Hearing results were recorded according to the American Academy of Otolaryngology-Head and Neck Surgery criteria, and facial nerve outcome was recorded as the House-Brackmann grade. Overall, 26 (52%) of the patients treated via the MF approach achieved a Class B or better hearing result compared with seven (14%) of the RS group. Some hearing was preserved in 32 (64%) of the patients in the MF group and in 17 (34%) of the RS group. The results obtained by using the MF approach were superior for intracanalicular tumors (p=0.009, t-test), and for tumors with a cerebellopontine angle (CPA) component measuring 0.1 to 1 cm (p=0.006, t-test). For tumors in the CPA that were 1.1 to 2 cm in size, our data were inconclusive because of the small sample size. Facial weakness was seen more frequently after MF surgery in the early postoperative period, but results were equal at 1 year. CONCLUSIONS: The results of this study have demonstrated a more favorable hearing outcome for patients with intracanalicular tumors and tumors extending up to 1 cm into the CPA that were removed via the MF when compared with the RS approach.

Adolescent↗
PubMed1997

A molecular, clinical, and immunohistochemical study of vestibular schwannoma.

The molecular pathogenesis of vestibular schwannoma has been investigated by determining the extent of chromosome 22 loss of heterozygosity in 77 tumors and relating these findings to clinical and immunohistochemical indexes of tumor behavior. Loss of heterozygosity was looked for at eight chromosome 22q loci. Clinical details were obtained in all 77 cases, and a clinical growth index was calculated for each tumor. The proliferative index was estimated in all tumors by using a monoclonal antibody to the proliferating cell nuclear antigen and by calculating the labeling index. Forty percent (31 of 77) of the tumors showed allele loss, and in each case this loss involved the region of the neurofibromatosis type 2 gene. No evidence was found that the presence of chromosome 22 allele loss was associated with the clinical growth index. On the log scale, however, an association was seen between the clinical growth index and the proliferating cell nuclear antigen labeling index p = 0.001). These results suggest that chromsome 22 allele loss is a frequent event in vestibular schwannoma. Tumor behavior, however, appears to be independent of the chromosome 22 mutation. It is proposed that chromosome 22 allele loss and neurofibromatosis type 2 gene inactivation is an early event, possibly involved in the initiation of tumorigenesis in vestibular schwannoma. Tumor growth appears to be independent of this mutation and is likely to be determined by other as yet undefined factors.

Adult↗
PubMed1997

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis.

A wide range of clinical phenotypes are associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In some cases, CFTR mutations have been identified in adults presenting with isolated features of cystic fibrosis such as mild lung disease, pancreatic insufficiency or male infertility, with normal sweat duct function. Nasal polyps are also a prominent feature of cystic fibrosis but it is unknown whether they also may represent a monosymptomatic form of the disease. We have screened the CFTR gene of 55 patients with severe nasal polyposis, who had no other features which would suggest a diagnosis of cystic fibrosis. The screening looked for mutations common to 86% of sufferers from cystic fibrosis. Three carriers were detected including one patient with the uncommon R117H mutation and two carriers of the delta F508 mutation. In addition there was one presumed carrier with a cystic fibrosis child, whose mutation we did not detect. This study has identified three CFTR mutation carriers in 55 patients with severe nasal polyposis. This is not significantly higher than the incidence in the general population. We cannot, from these figures, categorically rule out a slight association between CFTR mutations and simple nasal polyposis. However, we have demonstrated that the vast majority of patients with polyposis do not have inactivation of the CFTR gene.

Adult↗
PubMed1997

Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.

BACKGROUND: The growth of hereditary and sporadic vestibular schwannomas shows wide variation, but what determines this is poorly understood. HYPOTHESIS: In neurofibromatosis type 2 (NF2), there is some correlation between the nature of the germline NF2 gene mutation and phenotype. Somatic mutations in the NF2 gene occur in sporadic tumors, but their relation to tumor behavior is unknown. METHODS: This study has investigated the molecular pathogenesis of vestibular schwannoma by looking for NF2 gene mutations. The authors have screened 17 exons of the NF2 gene in 91 sporadic vestibular schwannomas, 2 NF2, and 1 vagal schwannoma. These data have been correlated with a clinical growth index and a tumor cell proliferation index, determined using a monoclonal antibody to the proliferating cell nuclear antigen. RESULTS: Of the 94 tumors studied, 40 somatic gene mutations (38%) have been sequenced in 36 tumors. The mutations included 36 protein truncating mutations, 1 in-frame deletion, 2 splice site mutations, and 1 missense mutation. Regression analysis showed no correlation between the nature of the NF2 gene mutation and either the clinical (R2 = 0.006) or the proliferative index (R2 = 4 x 10(-8). CONCLUSION: The results of this study show no association between the nature of the intragenic NF2 gene mutation and tumor behavior. It is likely therefore that NF2 gene inactivation is not the only determinant of tumor behavior in vestibular schwannoma.

Adult↗
PubMed1996

Laryngeal Kaposi's sarcoma in patients with AIDS.

Over a period of 10 years 17 human immunodeficiency virus(HIV)-infected patients with laryngeal Kaposi's sarcoma were seen and treated at University College London Hospitals. All patients had advanced HIV disease. Their presentation was with symptoms of upper airway obstruction in the majority of cases and the diagnosis was made by fibreoptic examination of the larynx. Biopsy was associated with brisk haemorrhage in one patient, who required a temporary tracheostomy, and was not performed in the other 16 cases. The commonest site of laryngeal involvement was the supraglottis in 11 patients, with glottic lesions noted in eight patients: subglottic lesions were seen in only three. Treatment of laryngeal Kaposi's sarcoma was, in general, conservative, five patients received low dose radiotherapy to the larynx and 10 were treated with systemic chemotherapy for disseminated Kaposi's sarcoma. Laryngeal Kaposi's sarcoma did not contribute to patient mortality.

Acquired Immunodeficiency Syndrome↗
PubMed1996

Cochlear implantation in superficial siderosis.

Superficial siderosis is a rare central nervous system disorder characterized by deafness, ataxia, and pyramidal signs. The hearing loss is believed to be predominantly neural and is usually progressive and bilateral. Careful assessment is therefore necessary to determine the best approach to hearing rehabilitation. A case is presented of superficial siderosis in a young woman who has benefitted significantly from cochlear implantation using the Nucleus device.

Adult↗
PubMed1996

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

The authors investigated the role of somatic mutations of the neurofibromatosis type 2 (NF2) gene in sporadic meningioma. Neurofibromatosis 2 is a dominantly inherited familial tumor syndrome predisposing affected patients to a variety of central nervous system tumors including vestibular schwannoma and meningioma. Neurofibromatosis type 2 is caused by germline mutations in the NF2 tumor suppressor gene. In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. The NF2 gene mutations were sought by single-stranded conformation polymorphism analysis and DNA sequencing. Fourteen (61%) of 23 meningiomas showed LOH in the region of the NF2 gene on chromosome 22. Somatic NF2 gene mutations were detected in eight meningiomas (35%) after screening all 17 exons. All tumors with NF2 gene mutations showed simultaneous chromosome 22 LOH. Review of the histopathological findings of the cases studied did not demonstrate any predominance of genetic abnormalities in a particular histological type of meningioma. These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

Chromosomes, Human, Pair 22↗
PubMed1995

The molecular genetics of vestibular schwannoma.

Vestibular schwannoma occurs both as a sporadic tumour and in the dominantly inherited familial cancer syndrome neurofibromatosis type 2 (NF2). The gene for NF2 has recently been isolated on chromosome 22, and the demonstration of inactivating germline mutations in NF2 patients and NF2 associated tumours suggests that it acts as a tumour suppressor. The results of recent research in Cambridge suggest that somatic mutations of the NF2 tumour suppressor gene are a critical step in the pathogenesis of both familial and indeed non-familial unilateral sporadic vestibular schwannoma and that the mechanism of tumourigenesis complies with the 'two-hit' model. This paper represents a brief review of the current status of molecular biology in relation to vestibular schwannoma in particular and is discussed in relation to the molecular pathology of skull base tumours as a whole.

Child↗
PubMed1995

Genetics of familial and non-familial skull base tumours.

Many tumours of the skull base, including schwannomas, paragangliomas, meningiomas and anterior pituitary tumours occur both as sporadic tumours and in clear cut familial syndromes. These cancers' highly penetrant dominantly inherited syndromes have proven to be a rich resource for locating tumour genes, most of which are of the tumour suppressor type. Recently, the gene for type 2 neurofibromatosis (NF2) was isolated by the technique of positional cloning. The NF2 gene has now been demonstrated to be involved in the pathogenesis of both familial and non-familial vestibular schwannomas as well as meningiomas. The presence of inactivating mutations within this gene suggests that it acts as a tumour suppressor and the mechanism has been shown to comply with a 'two hit' mutation model. Hereditary tumours constitute a small proportion of all cases, but evidence from studies of tumours such as vestibular schwannoma and meningioma have shown that their genes are also relevant to the much more common non-familial forms of the same tumour. This paper briefly describes the approach to locating tumour genes, and reviews our current knowledge regarding the chromosomal location and function of genes responsible for familial tumours involving the skull base. The genetic mechanisms of tumourigenesis are discussed as are the prospects for the development of novel forms of diagnosis and treatment.

Adenoma↗
PubMed1995

Referral patterns in vestibular schwannomas.

The investigation and treatment of vestibular schwannomas is an increasingly specialized area in which major advances have been seen over recent years. The effect of these advances on the referral patterns to a centre specializing in such surgery is reviewed. The proportion of referrals with a known diagnosis has increased substantially, allowing the specialist centre to focus on appropriate management rather than diagnosis. The vast majority of vestibular schwannomas are referred by otolaryngologists. The caseload referred by neurologists or neurosurgeons have different presenting symptoms. The incidence of vestibular schwannoma in the Cambridge district is found to be 1 per 50,000 population per year. This is a higher incidence than that recorded in other studies. This may be due to a tight diagnostic strategy and the high level of clinical awareness of the local general practitioners.

Ear Neoplasms↗
PubMed1995

Nervus intermedius function after vestibular schwannoma removal: clinical features and pathophysiological mechanisms.

The results of facial nerve outcome following vestibular schwannoma removal have generally ignored the sensory component of the nerve. This lack of reporting occurs partly because the distress relating to these functions is less obvious to the surgeon, and partly because the facial nerve grading systems currently used do not include the functions of the nervus intermedius. We have estimated the frequency and nature of abnormalities of nervus intermedius function following vestibular schwannoma removal using a retrospective questionnaire. Questionnaires were mailed to 257 patients and correctly completed and returned by 224 (87%) of the patients. Prior to surgery 5 (2%) of the patients complained of crocodile tears, 9 (4%) noted dryness of the eye, and 15 (6%) complained of an abnormality of taste. Postoperative crocodile tears occurred in 98 (44%), an absence or significant reduction in the production of tears was noted in 162 (72%), and a taste abnormality, either a significant reduction or an alteration in character, was noted in 107 (48%). The onset of crocodile tears approximated to a bimodal distribution, and the recovery of nervus intermedius functions was variable. This study has demonstrated that nervus intermedius abnormalities are common following vestibular schwannoma removal. It also documents their natural history and discusses the underlying pathophysiological mechanisms. We suggest that appropriate preoperative counseling be given to all patients undergoing surgery and that the functions of the nervus intermedius be included in the surgical reporting of facial nerve results in cerebellopontine angle surgery.

Facial Nerve↗
PubMed1995

The patient's perspective after vestibular schwannoma removal: quality of life and implications for management.

A postal survey was conducted, using a standardized quality of life questionnaire, of patients who had undergone surgery for removal of vestibular schwannoma between 1981 and 1992. Of 257 questionnaires, 227 (88%) were returned completed. The questionnaire was based on the European Organisation for Research into the Treatment of Cancer (EORTC) core questionnaire. A series of five functional gradings were used to assess the quality of life, and specific questions were also asked. The results were numerically scored and have been correlated with patient and tumor characteristics. There was a significant difference (p = .0001) between the subjective functional outcome for small and intracanalicular tumors when compared with tumors larger than 1.5 cm maximum diameter. However, there was no significant difference when tumors 1.5 to 2.5 cm in diameter were compared to larger tumors. Poor functional outcome did not correlate with the age of the patient, position in the series, or postoperative facial nerve motor function. There also was no significant difference when younger patients (age < 65 yr) were compared with older patients (age 65 - 76 yr). In general, the quality of life following vestibular schwannoma surgery was excellent. Patients with a poor functional outcome were evenly distributed over the medium and large tumor size groups, and patients with small tumors ( < or = 1.5 cm) had a significantly better outcome.

Activities of Daily Living↗
PubMed1995

Cochlear implants in chronic suppurative otitis media.

Chronic suppurative otitis media (CSOM) in profoundly deaf patients is a contraindication for cochlear implantation. Eight (6%) of the 126 patients referred to cochlear implantation at this center between 1986 and 1992 became deafened as a result of bilateral CSOM but were otherwise suitable candidates. This study details the methods used in four patients to prepare the septic ear for a sterile device. Two patients had wet radical cavities with residual cholesteatoma, and two had discharging safe perforations resistant to surgical repair. Obliteration of the middle ear cleft with blind pit closure of the ear canal was attempted in all four patients, and cochlear implants were installed at a second operation 3 to 6 months later. The hearing results were as good as in implanted patients without CSOM, and the only complication has been the finding of a cholesteatoma pearl at the second operation in one patient. Fat obliteration of the mastoid and middle ear with blind pit closure of the ear canal can be adapted to make most chronic ears fit for implantation, if the patient is prepared to undergo two operations.

Aged↗