- Email: [email protected]
SUCRASE-ISOMALTASE DEFICIENCY
204
females would perhaps be the most efficient to give maximum reproductivity for the species, so that most be surplus to requirements anyway. Demographers generally agree that if people were offered the opportunity to select the sex of their men seem to
children this would result in an increased proportion of males in the population, although different social classes and different ethnic groups would have different preferences for boys and girls. Attitudes would, however, change if one or other sex ever became heavily outnumbered, and some restoration of the balance would presumably follow. In fact, most parents of more than one child seem to desire children of both sexes, so that deviation from a 1/1 ratio might be less than expected; and the opportunity of choosing the sex of one’s children might keep down both family size and the population. The prediction 10that an excess of males will therefore lead to increases in prostitution, homosexuality, age of marriage of males, and numbers of males who never marry, may therefore be erroneous. On the other hand, the birth-order of the sexes in a family could change considerably. Instead of a random sequence of boys and girls, most firstborn might be boys. Since position in birth-order affects both physical and personality traits of developing offspring, behavioural changes in the population might be expected. The ability to preselect the sex of one’s children has not yet materialised, though the Ericsson method cannot be far from application in animals-with bull semen, for example. In both man and beast many sperms are chromosomally abnormal, and one will need to be sure that sperm-selection procedure does not inadvertently select for such abnormalities. When the results obtained with human sperm are improved upon, the individual, his physician, and society will be confronted with new problems.
STOMAL-THERAPY SPECIALISTS THE Joint Board of Clinical Nursing Studies has made recommendations on the training of nurses as stomal therapists. This new role is an interesting departure from the Salmon principle. Such a nurse may be promoted in the hierarchical scale without having to become an administrator; she will be able to keep in personal contact with patients and yet be in charge of a special service. The freedom of being one’s own boss will make this post attractive to many and ideal for the part-timer-the Salmon concept of giving up direct patient care and becoming solely administrative has undoubtedly discouraged many who were primarily interested in nursing in the
old-fashioned sense. Stomal therapy began in America after the original Bricker operation became popular. What are the therapist’s functions and responsibilities ? Before a planned operation, therapist and patient meet to establish rapport, to talk about aftercare services, and to ensure that the stoma will be correctly sited. (Leakage and other troubles are nearly always due to bad siting-too close to a scar or a bony point, or on a roll of fat that is not obvious when the patient is 10. Etzioni, A.
Science, 1968, 161, 1107.
lying down.) The therapist also supervises immediate postoperative care. If a transparent appliance is fitted in theatre she can keep an eye on the colour of the stoma without changing the bags. The appliance, indeed, is best left undisturbed for at least a week: in some centres they are attended to so often that after a is excoriated and soresomething experienced therapist would never allow. Later problems, too, are in her province-the smells and skin reactions due to intestinal secretions; or the decomposition of urine in patients with urinary conduits. The surgeon rarely has the time or the competence to deal with these, and, unless the patient is given time to talk about his problems to someone, many anxieties and difficulties may be suppressed and become manifest as an inability to cope with the stoma. Clearly a stomal therapist needs an excellent grasp of the community services, a comprehensive knowledge of appliances, and no little skill in skin care-something she should probably gain in a
week the skin around the
stoma
an
dermatology department. Two centres for training stomal therapists (the course is eight weeks) have been approved by the one at Stockton-on-Tees and the other St. Bartholomew’s Hospital, London. The success of this enterprise will depend on the interest shown by the medical profession in cooperating with these expert nurses. The possibility of rising in the nursing profession without having to abrogate clinical contacts with patients may well be an incentive to some nurses; and if stomal therapists make their mark with the medical and nursing professions, and with the Department of Health, what other forms of nurseexpert can we look forward to ?
Joint Board, at
SUCRASE-ISOMALTASE DEFICIENCY SINCE the recognition by Weijers and his coworkersin 1960 that diarrhoea in infancy can be caused by deficiency of the sugar-splitting enzymes sucrase and isomaltase, much has been learnt about this disorder. In 1963 Burgess and her colleagues2 showed that the enzyme deficiency is inherited as an autosomal recessive characteristic, and this has been But after fourteen years the confirmed by others. disorder is still often misdiagnosed. Ament et a1.8 discovered it in six patients in whom the diagnosis had been missed for periods of 11 months to 7 i years. A presumptive diagnosis of sucrase-isomaltase deficiency can be made when the sucrose-intolerance test gives a flat graph and when watery acid diarrhoea follows an oral load of sucrose. In small infants this procedure should be performed cautiously and under close supervision. Definitive diagnosis is made by smallintestinal biopsy and assay of the enzymes, which are deficient in the presence of normal mucosal architecture. Small-intestinal biopsy, combined with enzyme assay for disaccharidase activity in the specimen, is an important stage in the investigation of chronic diarrhcea in infants and children. Weijers, H. A., van de Kamer, J. H., Mossel, D. A. A., Dicke, W. K. Lancet, 1960, ii, 296. 2. Burgess, E. A., Levin, B., Mahalanabus, D., Tonge, R. E. Archs Dis. Childh. 1963, 39, 431. 3. Ament, M. E., Perera, D. R., Esther, L. J. J. Pediat. 1973, 5, 721 1.
females would perhaps be the most efficient to give maximum reproductivity for the species, so that most be surplus to requirements anyway. Demographers generally agree that if people were offered the opportunity to select the sex of their men seem to
children this would result in an increased proportion of males in the population, although different social classes and different ethnic groups would have different preferences for boys and girls. Attitudes would, however, change if one or other sex ever became heavily outnumbered, and some restoration of the balance would presumably follow. In fact, most parents of more than one child seem to desire children of both sexes, so that deviation from a 1/1 ratio might be less than expected; and the opportunity of choosing the sex of one’s children might keep down both family size and the population. The prediction 10that an excess of males will therefore lead to increases in prostitution, homosexuality, age of marriage of males, and numbers of males who never marry, may therefore be erroneous. On the other hand, the birth-order of the sexes in a family could change considerably. Instead of a random sequence of boys and girls, most firstborn might be boys. Since position in birth-order affects both physical and personality traits of developing offspring, behavioural changes in the population might be expected. The ability to preselect the sex of one’s children has not yet materialised, though the Ericsson method cannot be far from application in animals-with bull semen, for example. In both man and beast many sperms are chromosomally abnormal, and one will need to be sure that sperm-selection procedure does not inadvertently select for such abnormalities. When the results obtained with human sperm are improved upon, the individual, his physician, and society will be confronted with new problems.
STOMAL-THERAPY SPECIALISTS THE Joint Board of Clinical Nursing Studies has made recommendations on the training of nurses as stomal therapists. This new role is an interesting departure from the Salmon principle. Such a nurse may be promoted in the hierarchical scale without having to become an administrator; she will be able to keep in personal contact with patients and yet be in charge of a special service. The freedom of being one’s own boss will make this post attractive to many and ideal for the part-timer-the Salmon concept of giving up direct patient care and becoming solely administrative has undoubtedly discouraged many who were primarily interested in nursing in the
old-fashioned sense. Stomal therapy began in America after the original Bricker operation became popular. What are the therapist’s functions and responsibilities ? Before a planned operation, therapist and patient meet to establish rapport, to talk about aftercare services, and to ensure that the stoma will be correctly sited. (Leakage and other troubles are nearly always due to bad siting-too close to a scar or a bony point, or on a roll of fat that is not obvious when the patient is 10. Etzioni, A.
Science, 1968, 161, 1107.
lying down.) The therapist also supervises immediate postoperative care. If a transparent appliance is fitted in theatre she can keep an eye on the colour of the stoma without changing the bags. The appliance, indeed, is best left undisturbed for at least a week: in some centres they are attended to so often that after a is excoriated and soresomething experienced therapist would never allow. Later problems, too, are in her province-the smells and skin reactions due to intestinal secretions; or the decomposition of urine in patients with urinary conduits. The surgeon rarely has the time or the competence to deal with these, and, unless the patient is given time to talk about his problems to someone, many anxieties and difficulties may be suppressed and become manifest as an inability to cope with the stoma. Clearly a stomal therapist needs an excellent grasp of the community services, a comprehensive knowledge of appliances, and no little skill in skin care-something she should probably gain in a
week the skin around the
stoma
an
dermatology department. Two centres for training stomal therapists (the course is eight weeks) have been approved by the one at Stockton-on-Tees and the other St. Bartholomew’s Hospital, London. The success of this enterprise will depend on the interest shown by the medical profession in cooperating with these expert nurses. The possibility of rising in the nursing profession without having to abrogate clinical contacts with patients may well be an incentive to some nurses; and if stomal therapists make their mark with the medical and nursing professions, and with the Department of Health, what other forms of nurseexpert can we look forward to ?
Joint Board, at
SUCRASE-ISOMALTASE DEFICIENCY SINCE the recognition by Weijers and his coworkersin 1960 that diarrhoea in infancy can be caused by deficiency of the sugar-splitting enzymes sucrase and isomaltase, much has been learnt about this disorder. In 1963 Burgess and her colleagues2 showed that the enzyme deficiency is inherited as an autosomal recessive characteristic, and this has been But after fourteen years the confirmed by others. disorder is still often misdiagnosed. Ament et a1.8 discovered it in six patients in whom the diagnosis had been missed for periods of 11 months to 7 i years. A presumptive diagnosis of sucrase-isomaltase deficiency can be made when the sucrose-intolerance test gives a flat graph and when watery acid diarrhoea follows an oral load of sucrose. In small infants this procedure should be performed cautiously and under close supervision. Definitive diagnosis is made by smallintestinal biopsy and assay of the enzymes, which are deficient in the presence of normal mucosal architecture. Small-intestinal biopsy, combined with enzyme assay for disaccharidase activity in the specimen, is an important stage in the investigation of chronic diarrhcea in infants and children. Weijers, H. A., van de Kamer, J. H., Mossel, D. A. A., Dicke, W. K. Lancet, 1960, ii, 296. 2. Burgess, E. A., Levin, B., Mahalanabus, D., Tonge, R. E. Archs Dis. Childh. 1963, 39, 431. 3. Ament, M. E., Perera, D. R., Esther, L. J. J. Pediat. 1973, 5, 721 1.