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Biomedical subjects

R Stevenson

Publications and source records attributed to R Stevenson.

At least 37 records · Page 2Linked to original sources
PubMed1996

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Many of these features are characteristic of some of the autosomal dominant craniosynostotic syndromes. Mutations in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracellular domain. In Crouzon syndrome patients with acanthosis nigricans, a recurrent mutation occurs in the transmembrane domain of FGFR3. We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. In three sporatic cases, a novel missense mutation was found causing an amino acid to be replaced by a cysteine; two had the identical Ty375Cys mutation in the transmembrane domain and one had a Ser372Cys mutation in the carboxyl-terminal end of the linker region between the immunoglobulin III-like (Iglll) and transmembrane domains. In two patients, neither of these mutations were found suggesting further genetic heterogeneity.

Abnormalities, Multiple↗
PubMed1996

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22 region2. Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we characterized a novel transcript lying within the deletion as a candidate for this complex syndrome. We now report small deletions in this candidate gene in the original DFN-1/MTS family, and in a family with deafness, dystonia and mental deficiency but not blindness. This gene, named DDP (deafness/ dystonia peptide), shows high levels of expression in fetal and adult brain. The DDP protein demonstrates striking similarity to a predicted Schizosaccharomyces pombe protein of no known function. Thus, is it likely that the DDP gene encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development.

Abnormalities, Multiple↗
PubMed1996

Sexual risk behavior among female army recruits.

This tri-service study was an initial effort to develop an explanatory model of sexual risk behavior among young women in the military. Demographic, cognitive (problem-solving), and affective factors (self-esteem) were evaluated in relation to sexual risk behaviors (more than one sex partner, a new partner within 6 months, and not using a condom) among female Army recruits (n = 105) training at a large southeastern Army post. Participants demonstrated high self-esteem and good problem-solving abilities, yet more than two-thirds were at risk for STDs based on sexual risk behaviors. The relationship between self-esteem (affective) and problem-solving (cognitive) (r = 0.67, p = 0.0001) suggested that an emotional rather than a cognitive response may have influenced sexual risk behaviors. No relationships were observed between problem-solving or self-esteem and sexual risk behaviors. Implications for research and clinical practice are delineated.

Adolescent↗
PubMed1995

Early discharge after acute myocardial infarction: risks and benefits.

BACKGROUND: Thrombolytic treatment reduces mortality in patients with acute myocardial infarction but is associated with recurrent thrombotic events after admission, and it is unclear whether current practices of early hospital discharge are safe. Timing of first major adverse events (death, reinfarction, unstable angina, secondary ventricular fibrillation) in the early post-infarction period was studied to determine the risks. DESIGN: Follow up study. PATIENTS: 608 consecutive patients (447 men and 161 women) with confirmed myocardial infarction who were admitted to the coronary care unit of a district general hospital between January 1989 and December 1991. Clinical details, including the development of left ventricular failure and in hospital adverse events, were recorded prospectively. Follow up for out of hospital adverse events was carried out by review of the case notes, postal questionnaire, and where necessary, by telephone contact with the patient and his general practitioner. RESULTS: The risk (95% confidence interval) of major adverse events in the first 10 days was 32.3% (26.3 to 39.4%) in patients with heart failure and 7.3% (5.1 to 9.2%) in those without. Smoothed estimates of the event rate in patients without heart failure decreased from 5.9 events/1000 persons/day on day 6 to 3.4 events/1000 persons/day on day 10 and 0.9 events/1000 persons/day on day 21. The corresponding cumulative risk estimates suggest that about 11 in every 1000 patients suffer a major, but often unpreventable, adverse event on day 6 or 7 after admission, and 23 in every 1000 do so between days 6 and 10. CONCLUSIONS: The point at which the risk to the individual becomes acceptably low is a matter of judgement, but the risk of a major adverse event declines rapidly after a heart attack, and particularly for patients without heart failure discharge within a few days may be appropriate. Prolonging stay unnecessarily may use resources which could be more effectively used to treat cardiac disease in other ways.

Adult↗
PubMed1995

Cage size and flight speed of the tobacco hawkmoth Manduca sexta

Flight speeds and behaviors of the sphinx moth Manduca sexta were recorded in chambers of four different sizes (0.57, 8.5, 44 and 447 m3). Mean horizontal speed increased linearly with the cube root of chamber volume from 0.57 m s-1 in the smallest chamber to 3.4 m s-1 in the largest. The maximum horizontal speed observed was 5.3 m s-1 in the largest chamber. Speeds decreased linearly with the logarithm of hawkmoth proximity to the wall. In a tunnel chamber (the third largest), moths often flew in a scalloped-shaped path. At the top of the scallop, they glided for 1­5 wing beats. In the largest chamber, moths could be recorded flying at angles other than horizontal (0 °). At flight angles greater or less than 0 °, mean speed decreased linearly with angle until ±40 °. At greater angles, speeds remained between 1 and 2 m s-1. Moths also flew closer to the wall at flight angles deviating from the horizontal. An allometric analysis of the flight speeds of insects and birds suggests that M. sexta may be able to fly at 7­10 m s-1. We conclude that chamber size limits the flight speed and modifies the flight behavior of the tobacco hawkmoth.

Journal Article↗
PubMed1995

Feeding behavior in the nocturnal moth Manduca sexta is mediated mainly by blue receptors, but where are they located in the retina?

The spectral sensitivity of nectar feeding by adults of the tobacco hawkmoth Manduca sexta was measured in free-choice experiments. The action spectrum displayed a narrow peak at 450 nm and a low secondary maximum at 560 nm. Thus, the feeding response is mediated primarily by blue-sensitive receptors containing the Manduca sexta photopigment P450, while green-sensitive receptors containing P520 play a minor role. A minimum at 500 nm separating the two peaks suggests mutual inhibition between green and blue receptors or negative interaction more proximally in the visual system. The action spectrum drops off abruptly at 400 nm, in accordance with an earlier finding that ultraviolet wavelengths, discerned by receptors containing P357, obstruct the feeding response. The spectral sensitivity of the Manduca sexta compound eye, determined by electroretinogram recordings, and earlier visual pigment measurements indicate that approximately 75 % of the receptors are green-sensitive, with the remainder divided between blue- and ultraviolet-sensitive cells. The distribution of receptor types in small areas of the retina was measured by their ultrastructural response to light. Green and ultraviolet receptors were found, but not the blue receptors that dominate the feeding response. Possibly they are concentrated in a particular region of the retina that has not yet been found.

Journal Article↗
PubMed1994

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered.

Brain↗
PubMed1994

Relation between heart rate variability early after acute myocardial infarction and long-term mortality.

The relation between both time and frequency domain analyses of RR variability and mortality was examined in a series of 226 consecutive patients with acute myocardial infarction admitted to 3 district hospitals in London. All patients underwent 24-hour Holter monitoring early after infarction (mean 83 hours, range 48 to 180), and time and frequency domain analyses of RR variability were performed using commercially available software. During an 8-month follow-up period (range 3 to 12 months), there were 19 cardiac deaths (8.4%). Time domain analysis confirmed reduced RR variability (SDRR, SDANN, SD) among nonsurvivors compared with survivors. However, there was no difference between the groups when the percentage of absolute differences between successive RR intervals > 50 ms (pNN50) and the root-mean-square of successive differences (RMSSD)--vagal measures of RR variability--were analyzed. Frequency domain analysis demonstrated a significant difference between those who died and the survivors when the low-frequency component--modulated by both vagal and sympathetic mechanisms--was analyzed; however, this was less marked when the high-frequency component--modulated by vagal activity--was analyzed. None of these measures of RR variability was related to infarct site or left ventricular ejection fraction. In conclusion, the data confirm the association between low RR variability and mortality after acute myocardial infarction. However, the mechanism does not appear to relate exclusively to decreased parasympathetic tone. The data suggest that the increased risk of early mortality associated with reduced RR variability reflects an imbalance in sympathovagal function that is unrelated to left ventricular function.

Adult↗
PubMed1994

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families. Two of the HSAS mutations would abolish cell surface expression of L1 and represent the first functional null mutations in this disorder. Our results indicate that these three syndromes from part of a clinical spectrum resulting from a heterogeneous group of mutations in the L1 gene.

Aphasia↗
PubMed1994

Influence of the autonomic nervous system on circadian patterns of myocardial ischaemia: comparison of stable angina with the early postinfarction period.

OBJECTIVE: To compare the circadian rhythm of myocardial ischaemia in patients with stable angina with that in patients in the early postinfarction period with particular emphasis on the role of the autonomic nervous system. PATIENTS: 44 patients with stable angina and ischaemia on treadmill testing (group A) were compared with 131 patients in the early postinfarction period (group B). All had 48 hour ambulatory Holter monitoring. SETTING: Coronary care unit and cardiology department of a district general hospital. DESIGN: Prospective, between group, comparative study. RESULTS: 337 ischaemic episodes occurred in 35 patients in group A and 370 ischaemic episodes occurred in 65 patients in group B. 34% of patients in group A had only silent episodes of ischaemia compared with 97% in group B (p < 0.0001). In group A ischaemic episodes showed a circadian rhythm that peaked during the daytime hours (p < 0.0001), but this was not seen in group B. Both the high (0.15-0.40 Hz) and low (0.04-0.15 Hz) frequency spectral components of heart rate variability showed a clear circadian rhythm (p < 0.0001); peak values occurred during the sleeping hours, although this pattern was less pronounced in group B. The ratio of low to high frequency variability (a measure of sympathovagal balance) showed a peak in daytime hours in group A (p < 0.002), but this was not seen in group B. CONCLUSION: In stable angina, myocardial ischaemia peaks during the day and is associated with a similar circadian rhythm of sympathovagal balance. In the early postinfarction period both the ischaemic and sympathovagal rhythms are severely diminished or lost altogether. Circadian changes in sympathovagal tone may explain, at least in part, the circadian rhythm of ambulatory myocardial ischaemia in patients with stable angina.

Angina Pectoris↗
PubMed1994

Self-esteem, problem solving, and sexual risk behavior among women with and without Chlamydia.

Self-esteem and problem-solving appraisal were evaluated as an explanation of sexual risk behavior for the sexually transmitted disease (STD), chlamydia. Chlamydia, the most prevalent bacterial STD in the United States, is linked to a variety of problems which affect women, their offspring, and their sex partners. Data were collected by two nurse practitioners during scheduled gynecology visits for 105 military women. There was a statistical association among women with chlamydia (chi 2 = 3.623, df = 1, p = .057) and trichomonas (chi 2 = 12.83, df = 1, p = < .001) and a friable cervix. With a 10% prevalence of chlamydia, accurate diagnosis and treatment are imperative. No differences between the prevalence of chlamydia and self-esteem and problem-solving appraisal were noted. These findings support the strategies for diagnoses, treatment, and prevention of chlamydia recommended by the Centers for Disease Control.

Adult↗