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M FitzGerald

Publications and source records attributed to M FitzGerald.

11 recordsLinked to original sources
PubMed1992

Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3.

The sequences of three cosmids (90 kilobases) from the Huntington's disease region in chromosome 4p16.3 have been determined. A 30,837 base overlap of DNA sequenced from two individuals was found to contain 72 DNA sequence polymorphisms, an average of 2.3 polymorphisms per kilobase (kb). The assembled 58 kb contig contains 62 Alu repeats, and eleven predicted exons representing at least three expressed genes that encode previously unidentified proteins. Each of these genes is associated with a CpG island. The structure of one of the new genes, hda1-1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene.

Amino Acid Sequence↗
PubMed1992

Cystic fibrosis in adolescents and adults. The coming of age of cystic fibrosis.

Cystic fibrosis (CF) is the commonest, fatal, autosomal recessive disorder and is associated with lung sepsis, pancreatic failure and elevated sweat electrolytes. The CF gene on chromosome 7 encodes a protein identified as CF transmembrane conductance regulator (CFTR) which regulates chloride ion transport in epithelial cell membranes. Almost 100 mutations have been identified in this gene which cause defective chloride-channel control. Recently, this abnormality has been reversed in affected CF cells in vitro by retrovirus-mediated transfer of a normal gene. Fifty years ago, most cases died in childhood, but now up to 80% reach adulthood. Chronic lung sepsis is the principal cause of death, and intensive antibiotic therapy with chest physiotherapy is used to control this. Advanced lung disease can be successfully treated by heart-lung transplantation. Nebulised recombinant DNase and antineutrophil elastase agents such as alpha-1-antitrypsin and secretory leucoprotease inhibitor are potentially promising new therapies. Pancreatic insufficiency is managed by high-calorie diets and enteric coated enzyme supplements. Other prominent gastrointestinal complications include meconium ileus equivalent, biliary cirrhosis and cholelithiasis. Specially dedicated CF centres have led to improved survival rates and allow experienced staff to treat the many complications of CF while promoting research in this multisystem disorder.

Adolescent↗
PubMed1991

Aminoglycoside induced ototoxicity in patients with cystic fibrosis.

The improved survival of cystic fibrosis (CF) patients is partly due to intensive treatment for their chronic infections. Treatment usually includes intravenous and nebulised aminoglycoside antibiotics and they receive a large cumulative dose of these antibiotics over their lifetime. There is little information in the literature on the prevalence of ototoxicity due to aminoglycoside in these patients. We performed pure tone audiometry on 43 CF patients aged 14-42 years. Seven (16%) had bilateral sensorineural hearing loss (SNHL) for high frequency sounds, consistent with aminoglycoside induced ototoxicity. However, only 2 of these patients had documented toxic serum levels in the past. The identification of bilateral SNHL in one in six adult CF patients is a cause for concern. It may be that the high cumulative dose of aminoglycosides received by these patients may be causing inner ear injury in the absence of specific episodes of toxic serum levels.

Adolescent↗
PubMed1990

Using Sexton to read Freud: the pre-oedipal phase and the etiology of lesbianism in Sexton's "Rapunzel".

In her poem "Rapunzel," Anne Sexton maps out a model of lesbian etiology that at once parodies the model proposed by Freud and significantly amends it. Freud's famous model for female development, as he articulates it first in "Some Psychological Consequences of the Anatomical Distinction Between the Sexes," and later in "Female Sexuality," may be profitably compared to the model implied by Sexton's poem. The female pre-Oedipal phase is crucially at stake in such a comparison, as Sexton's account suggests that the pleasures of the pre-Oedipal mother-daughter dyad are dangerously strong for the girl child, and seem to be the force that compels the majority of girls into the rechanneling of libidinal desire from the mother to the father. Sexton's poem emphasizes the continuous pressures exerted by the pre-Oedipal phase upon the psyche of the developing girl. Sexton's emphasis on the pre-Oedipal phase, and her depiction of heterosexual love, in "Rapunzel" and elsewhere, as regressive, suggests that the "normal" heterosexual female, who seeks a father figure in order to save herself from re-absorption into the primal mother-daughter dyad, is actually acting out an infantile fantasy of the devouring mother. The morbid irony of Sexton's "Rapunzel" stems from its depiction of a young woman who flees the boundary-less world of the pre-Oedipal state, only to resurrect the infantile fantasy of the devouring mother in the arms of a father substitute.

Female↗
PubMed1988

Unusual clustering of allergic bronchopulmonary aspergillosis in children with cystic fibrosis.

Allergic bronchopulmonary aspergillosis has been recognized in association with cystic fibrosis in children since 1965. Since then, however, there have been a paucity of reports of pediatric cystic fibrosis complicated by allergic bronchopulmonary aspergillosis, and, in most cases, these have been diagnosed retrospectively. A cluster of five acute cases seen during a 4-month period in a single cystic fibrosis center with a systemic illness and deterioration in respiratory status are described. In all five patients, reversible bronchoconstriction and infiltrative changes on x-ray films suggested the diagnosis. This was confirmed by the presence of (1) peripheral blood eosinophilia, (2) elevated total IgE and Aspergillus fumigatus-specific IgE, and (3) circulating serum precipitins against A fumigatus in all cases. All children tested had positive type 1 immediate hypersensitivity to skin tests for A fumigatus, in sputum eosinophilia, and Aspergillus cultured from sputum. Only three of five children were previously noted to be atopic and none had severe advanced suppurative lung disease. All children had previously received bronchodilator therapy and appropriate antibiotics. Following treatment with corticosteroids, acute symptoms and radiologic changes resolved for 1 to 5 months. To date, no children have had recurrence of their allergic bronchopulmonary aspergillosis while receiving alternate-day steroid treatment for 6 months.

Adolescent↗
PubMedDate not supplied

Cystic fibrosis in adolescents and adults.

A cystic fibrosis (CF) clinic for adults was established in 1977. We have reviewed the data on 164 patients who attended between 1977 and 1989. Twenty four patients had died, 11 being over 20 years of age at the time of death. Of the 140 patients still alive, 61% were male and 53% were aged over 20 years. Only 55% were diagnosed by one year and 88% by ten years. Almost all patients had respiratory symptoms and sputum culture yielded pseudomonas species in 69%. Other respiratory problems included major haemoptysis and pneumothorax, each in 10%. We found a wide range of respiratory impairment among older patients. Among 33 patients aged over 23 years, the mean (+/-S.D.) percent predicted FEV1 and FVC were 53.3% (+/- 18%) and 71.4 (+/- 20%) respectively. Mean weight in this group was 92.5% (+/- 14) of predicted. Malabsorption occurred in most patients and meconium ileus equivalent occurred in 34%. Other complications were clinical hepatomegaly (16%), diabetes mellitus (9%) and arthropathy (20%). Most patients were taking continuous antibiotics by mouth (89%) and by nebuliser (48%), beta-2 agonists by inhaler (57%) and oral steroids (29%). Almost all were taking multivitamins, pancreatic replacement therapy and multiple nutritional supplements. The number of CF "bed days" grew 12 fold since 1979 and the mean stay in hospital was double the hospital mean. The economic impact was such that over 1/4 of the annual hospital antibiotic budget was expended on CF patients.

Adolescent↗