Search PubMed⌕ Search

Biomedical subjects

C Hayward

Publications and source records attributed to C Hayward.

At least 55 records · Page 3Linked to original sources

Beta haemolytic streptococcal infection does not cause right diaphragmatic eventration

Numerous case reports in the literature have suggested a causal link between beta-haemolytic streptococcal infection and delayed-onset right-sided diaphragmatic hernia/eventration in the perinatal age group. We report a child with antenatally documented right diaphragmatic eventration 4 weeks before birth who subsequently developed a beta-haemolytic streptococcal infection in the neonatal period.

Journal Article↗

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.

Animals↗

Failure of pulse high-dose dexamethasone in chronic idiopathic immune thrombocytopenia.

Idiopathic thrombocytopenic purpura (ITP) is a disorder characterized by increased platelet destruction in the setting of normal megakaryopoiesis. Approximately 20% of patients with ITP are refractory to corticosteroids and splenectomy. Recently, pulse high-dose dexamethasone was reported to be effective in the treatment of chronic ITP in adult patients. We treated 9 patients with severe chronic ITP with monthly high-dose dexamethasone. None of the 9 patients responded with a sustained increase in platelet count. Five of these patients were unable to tolerate the regimen. The failure of high-dose dexamethasone in our hands contrasts with the good results of an earlier publication and suggests that there could be a subset of responders who will require better identification.

Administration, Oral↗

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.

Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndrome families where at least two affected individuals were characterised and available for analysis, another 30 families with only one affected member available for analysis, and in 10 sporadic cases. In large well-characterised families with more than four affected individuals, the detection rate for mutations rose to 78% (7/9), in families with either two or three affected members 27% (3/11). In families where only one affected family member was available, the mutation detection rate was 17% (5/30), and in sporadic cases it was 20% (2/10). In addition, we found eight neutral polymorphisms. Twelve of the 17 disease-causing mutations identified have not been previously described, thus raising the total number of different fibrillin-1 mutations reported to 85 in 94 unrelated cases.

Amino Acid Sequence↗

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. Mutations are spread throughout the gene and, with the exception of neonatal Marfan syndrome, show no obvious clustering or phenotypic association.

Connective Tissue Diseases↗

Prospective study of risk factors for the initiation of cigarette smoking.

Risk factors for the initiation of cigarette smoking were examined in 2 consecutive cohorts of teenagers (N = 1,901). Students in Cohort 1 were followed over 4 years from 9th to 12th grade; those in Cohort 2 were followed over 3 years from 9th to 11th grade. Among girls with no history of smoking at baseline, those with more friends who smoked at baseline (p < .001) and those with higher sociability scores (p < .05) were significantly more likely to have tried smoking over the study interval. Among boys with no history of smoking at baseline, those with more friends who smoked at baseline (p < .05) and those with higher depression symptoms scores (p < .01) were significantly more likely to have tried smoking over the study interval. The data suggest that future research is needed to examine potential gender differences that may have implications for the next generation of smoking-prevention programs.

Adolescent↗

Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region.

Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encoding the eNOS gene showed distortion from the expected allele sharing among affected sisters (P = .001-.05), and the statistic obtained from the multilocus application of the affected-pedigree-member method also showed distortion (T[f(P)=sqrt(P)] = 3.53; P < .001). A LOD score of 3.36 was obtained for D7S505 when a best-fitting model derived from genetic epidemiological data was used, and LOD scores of 2.54-4.03 were obtained when various other genetic models were used. Estimates of recombination rate, rather than maximum LOD-score values, were affected by changes in the genetic parameters. The transmission-disequilibrium test, a model-free estimate of linkage, showed strongest association and linkage with a microsatellite within intron 13 of the eNOS gene (P = .005). These results support the localization of a familial pregnancy-induced hypertension-susceptibility locus in the region of chromosome 7q36 encoding the eNOS gene.

Adult↗

Psychiatric risk associated with early puberty in adolescent girls.

OBJECTIVE: This study prospectively evaluated the relationship between early puberty and the onset of internalizing symptoms and disorders in adolescent girls. METHOD: The sample was drawn from 1,463 sixth-, seventh-, and eighth-grade girls who participated in a longitudinal school-based study of growth and development. Pubertal stage was determined by self-assessment of Tanner stage. Psychiatric assessments included self-report instruments and structured diagnostic interviews. Survival methods were utilized for data analysis. RESULTS: Girls with onset of internalizing symptoms were on average 5 months earlier in pubertal development than those who were asymptomatic (p < .001). In addition, girls with earlier maturation (earliest quartile) were more likely to develop internalizing symptoms than were nonearly matures (hazard ratio = 1.8, confidence interval = 1.2, 2.7). In a subsample of girls followed into high school, early-maturing girls were at marginally higher risk (p < .10) for developing internalizing disorders by the study's end. The highest risk for internalizing disorders was for those girls with both early puberty and prior internalizing symptoms (odds ratio = 3.3). CONCLUSION: Early puberty increases the risk of internalizing symptoms and perhaps internalizing disorders in adolescent girls.

Chi-Square Distribution↗

Beta haemolytic streptococcal infection does not cause right diaphragmatic eventration.

Numerous case reports in the literature have suggested a causal link between beta-haemolytic streptococcal infection and delayed-onset right-sided diaphragmatic hernia/eventration in the perinatal age group. We report a child with antenatally documented right diaphragmatic eventration 4 weeks before birth who subsequently developed a beta-haemolytic streptococcal infection in the neonatal period.

Abnormalities, Multiple↗

Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension.

BACKGROUND: Inhaled nitric oxide (NO) is a selective pulmonary vasodilator that reduces pulmonary vascular resistance (PVR) in patients with primary pulmonary hypertension. Their responses to inhaled NO predict their responses to other vasodilators, such as prostacyclin, and provide an estimate of the "fixed" component of their increased PVR. Some patients with limited cutaneous systemic sclerosis develop isolated pulmonary hypertension with a similar clinical course. Therefore, we have measured the acute hemodynamic response to inhaled NO in such patients. METHODS AND RESULTS: Seven patients were studied during inhalation of increasing concentrations of NO (0 to 80 ppm). Complete hemodynamic data were collected on five patients. They demonstrated a selective, dose-dependent, and rapidly reversible fall in PVR (34%) and mean pulmonary artery pressure (17%). There was a nonsignificant increase in cardiac index but no change in mean arterial pressure or systemic vascular resistance. The mean right atrial pressure fell (27%), but there was no change in pulmonary artery occlusion pressure. Of the seven patients, five responded to inhaled NO ( < or = 40 ppm) with a decrease in total pulmonary resistance of at least 20%. CONCLUSIONS: Inhaled NO is an effective and selective pulmonary vasodilator in a significant number of patients with pulmonary hypertension associated with limited cutaneous systemic sclerosis. It may be useful in determining the potentially reversible contribution to the increased PVR and should be considered for patients with acute pulmonary vascular crisis.

Administration, Inhalation↗

Ethnicity and body dissatisfaction: are Hispanic and Asian girls at increased risk for eating disorders?

PURPOSE: To compare prevalences and correlates of body dissatisfaction among white, Hispanic, and Asian girls. METHODS: A total of 939 6th and 7th grade girls (mean age 12.4 years) attending four middle schools in northern California completed self-administered assessments of age, ethnicity, desired body shape, parent education levels, mother's and father's body shapes, pubertal stage, and body dissatisfaction. Body dissatisfaction was assessed with the Body Dissatisfaction scale of the Eating Disorder Inventory. Height, weight, triceps skinfold thickness, and waist and hip circumferences were measured by trained examiners. RESULTS: Hispanic girls reported significantly greater body dissatisfaction than white girls, with Asian girls in-between. After adjustment for body mass index (weight/height), normal and overweight white, Hispanic, and Asian girls reported similar levels of body dissatisfaction. However, among the leanest 25% of girls, Hispanics and Asians reported significantly more body dissatisfaction than white girls. Body mass index was the strongest independent predictor of increased body dissatisfaction in all three ethnic groups. Shorter height among white girls and taller height among Asian girls also made significant independent contributions. Parent education level, a measure of socioeconomic status, was not significantly associated with body dissatisfaction. CONCLUSIONS: Body dissatisfaction is not limited to white girls in middle and upper socioeconomic strata. These findings suggest Hispanic and Asian girls may be at greater risk for adopting eating disorder behaviors than previously recognized.

Adolescent↗

Weight concerns influence the development of eating disorders: a 4-year prospective study.

The authors examined factors prospectively associated with age of onset of partial syndrome eating disorders over a 4-year interval in a community sample (N = 877) of high school-age adolescent girls. Four percent developed a partial syndrome eating disorder over the interval. A measure of weight concerns was significantly associated with onset in a multivariate Cox proportional hazard analysis (p < .001). Girls scoring in the highest quartile on the measure of weight concerns had the highest incidence (10%) of partial syndrome onset, whereas none of the girls in the lowest quartile developed eating disorder symptoms. This finding is consistent with both theoretical and clinical perspectives and may represent a useful step toward the establishment of a rational basis for the choice of a prevention intervention target.

Adolescent↗

Analysis of the phylogenetic relationships of strains of Burkholderia solanacearum, Pseudomonas syzygii, and the blood disease bacterium of banana based on 16S rRNA gene sequences.

We determined nearly complete 16S rRNA gene sequences for 19 isolates of Burkholderia solanacearum, three isolates of the blood disease bacterium of bananas, and two isolates of Pseudomonas syzygii, the cause of Sumatra disease of cloves. The dendrogram produced by comparing all of these sequences revealed that there were two divisions, which corresponded to the results obtained previously in a restriction fragment length polymorphism analysis (D. Cook, E. Barlow, and L. Sequeira, Mol. Plant Microbe Interact. 2:113-121, 1989) and a total 16S ribosomal DNA (rDNA) sequence analysis of four isolates representing four biovars of B. solanacearum (X. Li, M. Dorsch, T. Del Dot, L. I. Sly, E. Stackebrandt, and A. C. Hayward, J. Appl. Bacteriol. 74:324-329, 1993). Division 1 comprised biovars 3, 4, and 5 and an aberrant biovar 2 isolate (strain ACH0732), and division 2 included biovars 1, 2, and N2, the blood disease bacterium, and P. syzygii. Specific nucleotides at positions 458 to 460 (UUC) and 474 (A) characterized division 2, whereas in division 1 the nucleotides at these positions were ACU and U, respectively. However, strain ACH0732 had a U at position 458, as did division 2 isolates, and G instead of U at position 474. Division 2 consisted of two subdivisions; one subdivision contained two B. solanacearum isolates that originated from Indonesia, P. syzygii strains, and blood disease bacterium strains, and the other subdivision contained all of the other division 2 isolates. Within division 1, the level of 16S rDNA sequence similarity ranged from 99.8 to 100%, and within division 2, the levels of 16S rDNA sequence similarity ranged from 99.1 to 100%. The division 1 isolates exhibited an average level of 16S rDNA sequence similarity to division 2 isolates of 99.3% (range, 99.1 to 99.5%). The occurrence of consistent polymorphisms in the 16S rDNA sequences of B. solanacearum strains, in particular unique 16S rDNA sequence differences in aberrant biovar 2 isolate ACH0732, and the occurrence of the Indonesian subdivision of division 2 suggest that this group is a rapidly evolving (tachytelic) group.

Base Sequence↗

A decade of gastroschisis in the era of antenatal ultrasound.

BACKGROUND: Gastroschisis is an uncommon condition in which viscera protrude at the base of the umbilical cord. To investigate the possible relationships between antenatal ultrasound findings, patient demographics, smoking, alcohol consumption and this condition, 21 causes are reviewed. METHODS: The medical records and antenatal ultrasounds of 21 children diagnosed with gastroschisis at the Adelaide Children's Hospital between 1 January 1985 and 31 December 1992 were reviewed. RESULTS: Antenatal ultrasound was employed in 15 cases, and the diagnosis was accurately made in 13 (86.7%) of these. There were 17 live births, two elective terminations and two pre-term abortions. Seven of the 21 cases had associated anomalies. The anomalies included five atresias, a ventricular septal defect (VSD), and a dislocated gall-bladder. Postoperative complications (which included one death) occurred in seven of the 17 patients. Bowel dilatation or thickening was first detected on five ultrasound examinations performed before 21 weeks' gestation, and four ultrasounds after 21 weeks. The nine cases with bowel changes on ultrasound were associated with a high atresia rate and a longer hospital stay, but not with an increased complication rate. Maternal race, parity, and alcohol consumption were not associated with increased risk of fetal gastroschisis. All mothers were under 27 years of age. There were nine mothers who smoked during pregnancy and a disproportionate number of mothers who lived outside the metropolitan area with gastroschisis-affected offspring. CONCLUSIONS: Bowel changes seen on antenatal ultrasound increase the chances of intestinal atresia and longer hospitalization. Smoking during pregnancy may be associated with an increased risk of gastroschisis.

Abdominal Muscles↗