Co-Planar Stereotaxic Atlas of the Human Brain—3-Dimensional Proportional System: An Approach to Cerebral Imaging, J. Talairach, P. Tournoux. Georg Thieme Verlag, New York (1988), 122 pp., 130 figs. DM 268

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans.

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

https://www.cell.com/cell/pdf/0092-8674(93)90406-G.pdf

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

Objective. —Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders. Data Sources. —Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings. Study Selection. —All studies were reviewed and analyzed by consensus from multiple authors. Data Extraction. —Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. Data Synthesis. —The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site. Conclusions. —On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.

https://jamanetwork.com/journals/jama/articlepdf/417288/jama_278_1_042.pdf

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

Introduction Histological Classification of CNS Tumours Definitions and Explanatory Notes Tumours of Neuroepithelial Tissue Astrocytic Tumours Ependymal Tumours Mixed Gliomas Choroid Plexus Tumours Neuroepithelial Tumours of Uncertain Origin Neuronal and Mixed Neuronal-Glial Tumours Pineal Parenchymal Tumours Embryonal Tumours Tumours of Cranial and Spinal Nerves Schwannoma Neurofibroma Malignant Peripheral Nerve Sheath Tumor Tumours of the Meninges Tumours of Menigothelial Cells Mesenchymal, Non-menigothelial Tumours Primary Melanocytic Lesions Lymphomas and Haemopoietic Neoplasms Germ Cell Tumours Cysts and Tumour-like Lesions Tumours of the Sellar Region Local Extensions from Regional Tumours Metastatic Tumours Unclassified Tumours Illustrations Subject Index Metat Cy Tu

Histological Typing of tumours of the Central Nervous System

The otosclerotic process commonly involves the otic capsule and may cause quite widespread demineralisation which leads to a progressive and often profound bilateral sensorineural hearing loss. In this situation cochlear implantation may be the only effective treatment. This chapter considers the pathology of this hearing loss, the effects of cochlear obliteration on implantation, and the effects of demineralisation of the otic capsule on placement of the electrode and nonauditory stimulation. A study is reported from 4 cochlear implant centres in the UK and the Netherlands of 53 patients with cochlear otosclerosis who received cochlear implantation. The CT features of their petrous bones are presented and a classification of the radiological features suggested. 38% of patients experienced facial nerve stimulation presumably due to spread of current through an otic capsule with lower than usual electrical impedance. The most common rogue electrodes were in the proximity of the geniculate ganglion. These could usually be successfully programmed out of the MAP.

Cochlear Implantation in Otosclerotic Deafness

This chapter describes the development of two implantable prosthetic neurostimulators which, in the last 20 years, have revolutionised the management of severe-to-profound sensorineural deafness. We have witnessed their rapid evolution from the realms of esoteric laboratory abstraction, with many critics and little perceived clinical use, to a routine treatment which is safe, effective and, indeed, cost effective. It is one of the great triumphs of biomedical and surgical collaboration, and is without any doubt the greatest ever advance in the treatment of deafness.

/pdf/cochlear-implants-and-brain-stem-implants-1vby07v8uq.pdf

Cochlear implants and brain stem implants.

Using an otoadmittance meter the function of the middle ear was compared in 38 patients with rheumatoid arthritis (RA) and 30 matched controls with non-articular rheumatism. Patients with pre-existing ear disease were excluded from the study. No subjects in either group showed hearing loss on pure tone audiometry, but otoadmittance abnormalities were recorded in 16 of the RA (42%) and in 2 of the control groups (7%). The pattern of abnormality was similar in each case and indicated an increased laxity of the conducting system. The reason for this unexpected finding is unknown. There were no significant differences between the RA patients with normal or abnormal recordings as regards clinical or laboratory features or treatment.

https://ard.bmj.com/content/annrheumdis/37/6/522.full.pdf

Middle ear function in rheumatoid arthritis.

It is a common misconception that damage to the marginal mandibular branch of the facial nerve causes drooping of the corner of the mouth. In fact the opposite is true, as a consideration of the anatomy confirms.

https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0022215100083869

The deformity produced by a palsy of the marginal mandibular branch of the facial nerve

We report a case of a peripheral neuroectodermal tumour (pPNET) of the cerebellopontine angle of a 67-year-old woman. The patient's age at presentation was highly unusual. This case highlights the difficulties encountered, both clinically and pathologically, in securing the correct diagnosis of such a rare condition presenting in this relatively inaccessible area. The development of the nomenclature and classification of neuroectodermal tumours is traced. Recent advances in immunohistochemistry and genetic typing have shown the close relationship between pPNET and the previously difficult to classify Ewing's sarcoma and Askin's tumour.

Richard T. Ramsden

Papers

Cochlear Implantation in Otosclerotic Deafness

Cochlear implants and brain stem implants.

Middle ear function in rheumatoid arthritis.

The deformity produced by a palsy of the marginal mandibular branch of the facial nerve

Peripheral primitive neuroectodermal tumour (pPNET) of the cerebellopontine angle presenting in adult life.