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R Coffey

Publications and source records attributed to R Coffey.

34 records · Page 2Linked to original sources
PubMed1991

The aging population. A critical issue in medicine for the 21st century.

One critical issue facing medical science concerns the aging population. The number of individuals 65 years and older has increased during the past decade and likely will double by the year 2030, when the elderly will represent nearly 20% of the total population. This dramatic increase has numerous ramifications; health care is of utmost importance. Inherent in meeting the medical needs of these individuals is a fundamental understanding of the effects of aging on the functional integrity of numerous organ systems. In recognition of this problem, the Department of Pharmacology and Therapeutics at the University of South Florida College of Medicine has initiated a major effort focused on age-related research. The objectives are to elucidate fundamental biochemical, physiological, and pharmacological alterations that occur as a consequence of normal aging and to investigate the role of these perturbations on the manifestations of disease. Information gained from such studies will provide a rational approach in developing therapeutic strategies for the treatment of diseases affecting older citizens. This article presents a brief overview of four areas of research currently being pursued. These include aging and brain function, age-related alterations in drug metabolism, aging and smooth muscle function, and the effects of aging on the immune system.

Aging↗
PubMed1989

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis.

We reexamined 75 children in whom Leber's congenital amaurosis had been previously diagnosed. On review, 30 of these patients had an ocular or systemic disorder other than Leber's congenital amaurosis. The most common of these revised diagnoses were congenital stationary night blindness, achromatopsia, infantile-onset retinitis pigmentosa, Joubert's syndrome, Zellweger syndrome, and infantile Refsum's disease. Of the 45 patients with Leber's congenital amaurosis, mental retardation occurred in six patients, and visual deterioration in six patients. Leber's congenital amaurosis should only be diagnosed if other known ocular and systemic disorders have been carefully excluded.

Blindness↗
PubMed1988

Risk estimation and screening in families of patients with medullary thyroid carcinoma.

Many gene carriers for multiple endocrine neoplasia type 2a (MEN 2a) do not manifest the disease, even into old age. Thus, a negative family history in a patient presenting with medullary thyroid carcinoma does not reliably exclude familial disease. Data are reported for the probability that the MEN 2a gene will either have manifested clinically or be detectable by stimulated calcitonin screening by a given age. These probabilities can be used to calculate individual risks and to guide screening.

Adolescent↗
PubMed1988

Family screening in medullary thyroid carcinoma presenting without a family history.

Systematic screening of the families of a series of 39 patients with apparently sporadic medullary thyroid carcinoma detected seven new cases in four families. A negative family history in a patient presenting with medullary thyroid carcinoma is not reliable in excluding familial disease, and family screening should be considered for new patients with medullary thyroid carcinoma.

Adolescent↗
PubMed1984

The cerebrovascular effects of intraarterial CO2 in quantities required for diagnostic imaging.

The recent development of digital subtraction angiography (DSA) has renewed interest in the use of gases, especially carbon dioxide, as contrast agents. Both early physiologic studies and recent clinical reports suggest that arterial CO2-DSA is a safe and useful diagnostic tool in the examination of extremity circulation. The present study examined the neurologic sequelae, pathologic changes, and effects on the blood-brain barrier to intravenous Evans-Blue and horseradish peroxidase of intracarotid CO2, in albino rats. As with other forms of cerebral gas embolization, CO2 produced multifocal ischemic infarctions and disrupted the blood-brain barrier to macromolecular tracers. The site of the barrier lesion is the endothelial cell membrane, although the precise mechanisms of damage remain unknown. Caution must be urged in the use of CO2-DSA to avoid embolization of the central nervous system.

Animals↗
PubMed1982

A three generation family study of cleft lip with or without cleft palate.

A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. Patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% (+/- 0.56), of sibs 2.79% (+/- 0.52), and of parents 1.18% (+/- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.

Adult↗
PubMed1982

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. This syndrome is distinct from Pfeiffer syndrome, in which the facies more closely resembles that in Crouzon syndrome and in which it is the proximal phalanx of the big toe (and often of the thumb) which is abnormal. It is suggested that this newly recognised syndrome be called after Robinow and Sorauf, who appear to be the first to have described a family with the condition. One proband with coronal stenosis had a mother and brother affected, but no syndrome was recognised in them. Excluding this last case, no non-syndromic proband had an affected parent. The 58 probands with predominantly sagittal synostosis had 106 sibs, none of whom was affected. The 21 probands with predominantly coronal synostosis included one sib pair both affected; the remaining 17 sibs were unaffected. The four probands with predominantly metopic stenosis had 13 unaffected sibs and the four with multiple sutures involved had eight unaffected sibs. One sagittal proband had an unaffected monozygotic twin and another an unaffected dizygotic twin.

Craniosynostoses↗
PubMed1982

A family study of isolated cleft palate.

A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.

Adult↗
PubMed1980

Comparison of plasma histamine and cyclic nucleotides after antigen and methacholine inhalation in man.

Serial determinations of plasma histamine and cyclic nucleotides (adenosine monophosphate [AMP] and guanosine monophosphate [GMP]) were performed after inhalation of antigen and methacholine in four groups of subjects. In the first group, consisting of six antigen-sensitive subjects exhibiting bronchospasm after inhalation of ragweed or grass antigen, plasma histamine was elevated within 2 min and persisted for 30 min after inhalation of antigen. Peak histamine levels were between 18 to 80 ng/ml. In the second group, consisting of four nonatopic subjects, neither bronchospasm nor histamine was observed, despite inhalation of the same or 10-fold increased concentrations of antigen. In the third group, consisting of six subjects (three atopic and three nonatopic) exhibiting bronchospasm after inhalation of 2.5 to 10 mg of methacholine, sustained increases of histamine began at 1 min and persisted for 60 min after inhalation of methacholine. In the fourth group, seven subjects (two atopic, five nonatopic) without demonstrable bronchospasm despite inhalation of 2.5- to 10-fold increased doses of methacholine, no histamine was detected in the plasma at any time after inhalation of methacholine. Serial measurements of cyclic nucleotides showed no consistent changes in serum levels of cyclic AMP or cyclic GMP following inhalation challenge. We conclude that serum levels of histamine but not cyclic nucleotides change during bronchospasm induced by either antigen or methacholine.

Adult↗
PubMed1980

A family study of bladder exstrophy.

The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the cloaca. In all they had 162 sibs, none of whom had bladder exstrophy. The risk to sibs, in this study and from reports by surgeons of sib pairs in their consecutive series, is low and probably less than 1%. There is a suggestion of an increase in central nervous system malformation in sibs as well as in the index patients.

Bladder Exstrophy↗
PubMed1977

Hypercalcemic hyperparathyroidism in hypophosphatemic rickets.

A 25-year-old white woman with sporadic hypophosphatemic rickets presented with a 7 year history of chronic mild hypercalcemia, osteitis fibrosa cystic and hypercalcemic nephropathy. Serum immunoreactive parathyroid hormone was elevated by greater than 100-fold and a 3.5 g parathyroid tumor was found at operation. Survey of the literature reveals that of 9 previous cases in which hypercalcemic hyperparathyroidism occurred in association with hypophosphatemic rickets, only two had classical x-linked familial hypophosphatemic rickets. It appears more than likely that this unusual combination of skeletal diseases represents the chance occurrence of primary hyperparathyroidism in patients with underlying x-linked familial hypophosphatemic rickets rather than a complication of phosphate therapy.

Adolescent↗
PubMedDate not supplied

Treatment of arteriovenous malformations of the brain with combined embolization and stereotactic radiosurgery: results after 1 and 2 years.

Seven patients with large arteriovenous malformations (AVMs) of the brain were selected for combined therapy with particulate embolization, followed by radiosurgery of the residual nidus. The goal of embolization was to reduce the patient nidus to a size that facilitated successful stereotactic radiosurgery. Angiograms obtained 1 and 2 years after radiosurgery were evaluated for changes in nidus size, flow rate, and feeding and draining vessels. One year after stereotactic radiosurgery, one AVM was angiographically undetectable. Three other AVMs demonstrated a volume reduction of greater than 50%, in addition to decreased shunt speed and altered angioarchitecture at 1-year follow-up. At 2-year follow-ups, two of seven AVMs were cured, and an additional two of seven had a greater than 98% reduction in nidus volume. Although one patient experienced a transient deficit from embolotherapy, none of our patients suffered a new neurologic deficit or a hemorrhage during the follow-up period. Our data support the efficacy of combined embolotherapy and radiosurgery for definitive therapy of selected large AVMs of the brain.

Adult↗