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GENETIC FACTORS IN OTOSCLEROSIS
876
experimental language for biomedical engineering is now available. By phrasing his inquiry in these terms, the searcher can operate the retrieval mechanism to identify the documents meeting the selection criteria. He then extracts the full texts from a microfiche file, and if he wishes, he can make a photocopy to take away. A working library on these lines is being constructed at Hampstead; and further investigations are assessing whether a large group of collaborators (such as the members of a scientific society) can be used to code new articles (that is, allocate descriptors from some form of thesaurus) if the coding process is made easy enough.
acquired experiences which are loosely called culture and which, in practical terms, have equipped him with a repertoire of behaviour patterns that are unique in their diversity. Animal studies are useful in interpreting human behaviour, but no ethologist would suggest that direct comparisons are valid. There is no reason to believe, for example, that human aggressive behaviour was any less destructive in its primitive than its present form: unlike subhuman apes, men do not wage war solely to defend or establish territorial rights-in fact, agonistic behaviour in apes seldom leads to full-scale conflict. With intelligence at our command we might be wiser to forget that we were once apes, and concentrate, instead, on becoming successful human beings.
WHICH WAY TO SALVATION?
ZOOLOGISTS are an irreverent lot: to them man is just another species of animal, and language, art, and culture are some of his species characteristics. Dr. Desmond Morris is a zoologist, and he regards man-along with snakes, apes, and pandas-as fair game for his pen.1 But Homo sapiens is a puzzle, even to zoologists. He does not look much like his anthropoid relatives: he stands and walks upright, his arms are short and his legs long, he has a large brain, and he is virtually hairless. Of all human characteristics, hairlessness is the one that most fascinates Dr. Morris. Hair loss, he suggests, was encouraged by the transition from a quiet fruit-gathering existence in tropical forests to a hunting life in hot, open country-a long hairy coat would lead to overheating during a sudden sprint after prey. (This explanation is plausible enough, but loss of hair could just as well have been a sideeffect of the neoteny that gave-man his upright stance and large brain.) Adoption of a diet that was largely carnivorous also led to important changes in behaviour. Being none too fleet of foot, the hunting ape had to work in packs. The males had to cooperate on the hunt, leaving the females behind to look after the young during the prolonged childhood imposed by the need to develop a big brain. The development of pair-bonding, which was supposed to ensure that a female remained faithful to her absent husband, also met the protective needs of the female and her offspring, and to keep a male to herself she became sexually receptive all year round. The naked skin, by its sensitivity, gave greater emphasis to precopulatory behaviour, thereby reinforcing the bond. Thus, sexual activity became much more intense in man than in any other primate.
Dr. Morris’s analysis of man is incisive and sometimes slightly disquieting. Unfortunately, it is presented with an air of authority that is not always justified. Headaches and minor infections may attract a little sympathy, but can they really be called " grooming invitation ailments " ? Are pathogens deliberately acquired a as comfort-seeking mechanism? A more serious criticism can be levelled against the whole raison d’etre of this book-a warning from Dr. Morris that we should remember our anthropoid past, and, for the salvation of our paranoid and anxiety-prone species, give rein to some of our earthy primate impulses. But, in presenting man as a biological species, he has surely overlooked one important fact: man is a naked ape, but he is also an intelligent ape. Man can think and communicate, and these two processes have given him a set of historically 1. The Naked 1967. Pp.
Ape. 252.
By DESMOND MORRIS. 30s.
London: Jonathan
Cape.
GENETIC FACTORS IN OTOSCLEROSIS
IN otosclerosis abnormal deposits of spongy bone arise in and around the otic capsule, causing ankylosis of the stapes. This condition is the commonest single cause It has been of deafness in Caucasian adults. recognised for over a century but, despite intensive study with increasingly elaborate equipment, much remains to be discovered about aetiology and pathology. The importance of heredity in otosclerosis was also noted as long ago as 1861, but much later work was invalidated by inadequate diagnosis and unwarranted genetic conclusions. Morrisonhas now presented a survey of 150 patients with otosclerosis and their families. The incidence in East London was 3 per 1000 population, and histological frequency was 7 per 1000. The disease has an autosomal dominant inheritance and is manifest in about 40% of individuals carrying the abnormal gene. Contrary to common otological experience, the incidence is probably the same in both sexes, though in many females hormonal influences cause the deafness to advance more rapidly. The age of onset is the same for males and females, the main risk age being 15-44 years. In any given sibship the age of onset tends to be similar, while with succeeding generations the disease appears earlier. About 30% of cases are isolated instances, which could arise by another mode of inheritance, but they are more likely to result from failure of the disease to manifest itself in other members of the family. Some sporadic cases will be the result of new mutations, and there is evidence to suggest that, among these isolated cases, later births are more likely to be affected. Further work is needed to clarify this point. No evidence exists of either association or linkage between otosclerosis and the ABO, MN, and rhesus blood-groups, the secretor states, or the haptoglobin genotypes. But there is a statistically significant association with the ability to taste phenylthiocarbamide ; and this link cannot be explained in biochemical language. Chromosome studies and analyses in otosclerosis and in osteogenesis imperfecta have produced normal karyotypes.
Otosclerosis, like osteogenesis imperfecta, is one of a group of hereditary disorders of collagen, with a similar mode of inheritance, incomplete manifestation, varying degrees of expressivity, and possibly a common abnormal The deafness found in osteogenesis enzyme system. imperfecta is not otosclerosis, but a genocopy of it. 1.
Morrison, A. W. Ann.
R. Coll.
Surg. 1967, 41,
202.
experimental language for biomedical engineering is now available. By phrasing his inquiry in these terms, the searcher can operate the retrieval mechanism to identify the documents meeting the selection criteria. He then extracts the full texts from a microfiche file, and if he wishes, he can make a photocopy to take away. A working library on these lines is being constructed at Hampstead; and further investigations are assessing whether a large group of collaborators (such as the members of a scientific society) can be used to code new articles (that is, allocate descriptors from some form of thesaurus) if the coding process is made easy enough.
acquired experiences which are loosely called culture and which, in practical terms, have equipped him with a repertoire of behaviour patterns that are unique in their diversity. Animal studies are useful in interpreting human behaviour, but no ethologist would suggest that direct comparisons are valid. There is no reason to believe, for example, that human aggressive behaviour was any less destructive in its primitive than its present form: unlike subhuman apes, men do not wage war solely to defend or establish territorial rights-in fact, agonistic behaviour in apes seldom leads to full-scale conflict. With intelligence at our command we might be wiser to forget that we were once apes, and concentrate, instead, on becoming successful human beings.
WHICH WAY TO SALVATION?
ZOOLOGISTS are an irreverent lot: to them man is just another species of animal, and language, art, and culture are some of his species characteristics. Dr. Desmond Morris is a zoologist, and he regards man-along with snakes, apes, and pandas-as fair game for his pen.1 But Homo sapiens is a puzzle, even to zoologists. He does not look much like his anthropoid relatives: he stands and walks upright, his arms are short and his legs long, he has a large brain, and he is virtually hairless. Of all human characteristics, hairlessness is the one that most fascinates Dr. Morris. Hair loss, he suggests, was encouraged by the transition from a quiet fruit-gathering existence in tropical forests to a hunting life in hot, open country-a long hairy coat would lead to overheating during a sudden sprint after prey. (This explanation is plausible enough, but loss of hair could just as well have been a sideeffect of the neoteny that gave-man his upright stance and large brain.) Adoption of a diet that was largely carnivorous also led to important changes in behaviour. Being none too fleet of foot, the hunting ape had to work in packs. The males had to cooperate on the hunt, leaving the females behind to look after the young during the prolonged childhood imposed by the need to develop a big brain. The development of pair-bonding, which was supposed to ensure that a female remained faithful to her absent husband, also met the protective needs of the female and her offspring, and to keep a male to herself she became sexually receptive all year round. The naked skin, by its sensitivity, gave greater emphasis to precopulatory behaviour, thereby reinforcing the bond. Thus, sexual activity became much more intense in man than in any other primate.
Dr. Morris’s analysis of man is incisive and sometimes slightly disquieting. Unfortunately, it is presented with an air of authority that is not always justified. Headaches and minor infections may attract a little sympathy, but can they really be called " grooming invitation ailments " ? Are pathogens deliberately acquired a as comfort-seeking mechanism? A more serious criticism can be levelled against the whole raison d’etre of this book-a warning from Dr. Morris that we should remember our anthropoid past, and, for the salvation of our paranoid and anxiety-prone species, give rein to some of our earthy primate impulses. But, in presenting man as a biological species, he has surely overlooked one important fact: man is a naked ape, but he is also an intelligent ape. Man can think and communicate, and these two processes have given him a set of historically 1. The Naked 1967. Pp.
Ape. 252.
By DESMOND MORRIS. 30s.
London: Jonathan
Cape.
GENETIC FACTORS IN OTOSCLEROSIS
IN otosclerosis abnormal deposits of spongy bone arise in and around the otic capsule, causing ankylosis of the stapes. This condition is the commonest single cause It has been of deafness in Caucasian adults. recognised for over a century but, despite intensive study with increasingly elaborate equipment, much remains to be discovered about aetiology and pathology. The importance of heredity in otosclerosis was also noted as long ago as 1861, but much later work was invalidated by inadequate diagnosis and unwarranted genetic conclusions. Morrisonhas now presented a survey of 150 patients with otosclerosis and their families. The incidence in East London was 3 per 1000 population, and histological frequency was 7 per 1000. The disease has an autosomal dominant inheritance and is manifest in about 40% of individuals carrying the abnormal gene. Contrary to common otological experience, the incidence is probably the same in both sexes, though in many females hormonal influences cause the deafness to advance more rapidly. The age of onset is the same for males and females, the main risk age being 15-44 years. In any given sibship the age of onset tends to be similar, while with succeeding generations the disease appears earlier. About 30% of cases are isolated instances, which could arise by another mode of inheritance, but they are more likely to result from failure of the disease to manifest itself in other members of the family. Some sporadic cases will be the result of new mutations, and there is evidence to suggest that, among these isolated cases, later births are more likely to be affected. Further work is needed to clarify this point. No evidence exists of either association or linkage between otosclerosis and the ABO, MN, and rhesus blood-groups, the secretor states, or the haptoglobin genotypes. But there is a statistically significant association with the ability to taste phenylthiocarbamide ; and this link cannot be explained in biochemical language. Chromosome studies and analyses in otosclerosis and in osteogenesis imperfecta have produced normal karyotypes.
Otosclerosis, like osteogenesis imperfecta, is one of a group of hereditary disorders of collagen, with a similar mode of inheritance, incomplete manifestation, varying degrees of expressivity, and possibly a common abnormal The deafness found in osteogenesis enzyme system. imperfecta is not otosclerosis, but a genocopy of it. 1.
Morrison, A. W. Ann.
R. Coll.
Surg. 1967, 41,
202.