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Biomedical subjects

J Mulligan

Publications and source records attributed to J Mulligan.

At least 19 recordsLinked to original sources
PubMed2005

Increasing body weight predicts the earlier onset of insulin-dependant diabetes in childhood: testing the 'accelerator hypothesis' (2).

AIMS AND METHODS: It has recently been hypothesized that weight gain in childhood accelerates the onset of Type 1 diabetes, as well as increasing its risk, and that Type 1 diabetes and Type 2 diabetes may be one and the same disorder of insulin resistance. An explanation is needed for the rising incidence of childhood diabetes and, to test the Accelerator Hypothesis, we examined the anthropometric measurements recorded from birth in 168 young people presenting with Type 1 diabetes between 1980 and 2002. Pre-onset as well as peri- and post-onset measurements of height and weight were available, and waist circumference was recorded at various intervals after onset. RESULTS: The mean birth weight of the children and their height, weight and body mass index (BMI) at diagnosis lay close to the population mean. However, pre-onset and post-onset BMI were both well above the population mean, were closely correlated with each other (r = 0.79, P < 0.001) and (inversely) with age at onset (r = -0.30, P < 0.001). A significant correlation was also found between BMI standard deviation scores (sds) and year of diagnosis (r = 0.27, P < 0.001) and, importantly, waist circumference sds in the children with Type 1 diabetes was found to be substantially greater than average for the population [boys: +0.96 (sd 1.04), girls: +1.30 (sd 0.89)]. CONCLUSIONS: The data suggest that children with Type 1 diabetes have become progressively heavier at diagnosis over the past 20 years, and that the heavier child develops it earlier. Waist circumference, a proxy for visceral fat mass and insulin resistance, is substantially greater in children with Type 1 diabetes. Weight centile crossing appears to be an important environmental accelerator which may contribute to or account for the striking increase in both Type 1 diabetes and Type 2 diabetes in childhood. A reduction of body weight and improved lifestyle might reverse this trend in both types of diabetes.

Age of Onset↗
PubMed2004

Personality functioning: the influence of stature.

BACKGROUND: The Wessex Growth Study has monitored the psychological development of a large cohort of short normal and average height control participants since school entry. AIMS: To examine the effect of stature on their personality functioning now that they are aged 18-20 years. METHODS: This report contains data from 48 short normal and 66 control participants. Mean height SD score at recruitment was: short normals -2.62 SD, controls -0.22 SD. Final height SD score was: short normals -1.86, controls 0.07. The Adolescent to Adult Personality Functioning Assessment (ADAPFA) measures functioning in six domains: education and employment, love relationships, friendships, coping, social contacts, and negotiations. RESULTS: No significant effect of recruitment height or final height was found on total ADAPFA score or on any of the domain scores. Socioeconomic status significantly affected total score, employment and education, and coping domain scores. Gender had a significant effect on total score, love relationships, coping, and social contacts domain scores. Salient aspects of daily living for this sample were identified from the interviews (prevalence%): consuming alcohol (94%), further education (63%), love relationships (55%), current drug use (29%), experience of violence (28%), parenthood (11%), and unemployment (9%). Stature was not significantly related to behaviour in any of these areas. CONCLUSIONS: Despite previously reported links between short stature and poorer psychosocial adaptation, no evidence was found that stature per se significantly affected the functioning of the participants in these areas as young adults.

Adolescent↗
PubMed2001

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority of affected individuals have been reported in the Afrikaner population of South Africa, where a high incidence of the disorder occurs as a result of a founder effect. Homozygosity mapping in Afrikaner families along with analysis of historical recombinants localized sclerosteosis to an interval of approximately 2 cM between the loci D17S1787 and D17S930 on chromosome 17q12-q21. Here we report two independent mutations in a novel gene, termed "SOST." Affected Afrikaners carry a nonsense mutation near the amino terminus of the encoded protein, whereas an unrelated affected person of Senegalese origin carries a splicing mutation within the single intron of the gene. The SOST gene encodes a protein that shares similarity with a class of cystine knot-containing factors including dan, cerberus, gremlin, prdc, and caronte. The specific and progressive effect on bone formation observed in individuals affected with sclerosteosis, along with the data presented in this study, together suggest that the SOST gene encodes an important new regulator of bone homeostasis.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Measuring and improving patients' and families' perceptions of care in a system of pediatric hospitals.

BACKGROUND: Shriners Hospitals for Children (SHC) is a network of 22 pediatric specialty hospitals that provide medical care free of charge to children up to 18 years of age and that serve as referral centers for children with complex orthopedic and burn problems. In 1998 the SHC system began using The Picker Institute's Patient and Family Perception of Care inpatient survey throughout its hospitals. SYSTEMWIDE IMPLEMENTATION: A broad-based implementation plan was developed to promote acceptance of the perception of care topic and provide education on performance improvement. In 1999 a work group was formed to prioritize areas for improvement, survey benchmark hospitals, and identify best practices in benchmark hospitals. This work group first focused on the dimensions of Partnership Between Families and Clinicians and Information and Education to the Child. In May 1999 the work group began the task of identifying best practices in these two priority dimensions from the SHC benchmark hospitals. Surveys were submitted to those hospitals, asking what they perceived as being the reasons they scored well in those areas. The results of these surveys were used to identify key practices in these benchmark hospitals that are of significant importance in patient and family perceptions of quality care. NEXT STEPS: The challenge is to facilitate cross-facility interactions to understand and adopt best practices. Focus groups will be conducted to further delineate the dimensions with higher problem scores. The SHC system plans to expand the patient surveys to outpatients, to allow for the evaluation of the full complement of hospital patients.

Burn Units↗
PubMed2001

Hormones and handedness.

BACKGROUND: The Wessex Growth Study has monitored the growth and psychological development of short normal (SN) and average height control subjects since they entered school in 1985/1986. During psychometric testing, we found that 25% SN compared to 9% control subjects wrote with their left hand. The short group also attained significantly lower scores on measures of IQ and attainment and displayed less internalisation of control. Laterality, however, is thought to be influenced by the intrauterine environment and has been associated with pubertal delay. At recruitment, short children had a relatively low birth weight, delayed bone age and were more likely than controls to be short for family. OBJECTIVES: To determine if birth conditions were associated with lateral preference and whether laterality could account for the differences found during the psychometric assessment or predict pubertal timing of SN children. METHODS: Subjects were classified as right- (RH) or left-handed (LH) according to the writing hand and the data were investigated examining the effect of handedness and stature. RESULTS: RH and LH SN children were no more likely to suffer birth complications than those of average height. Psychometric testing did not reveal any significant differences between RH and LH SN children and their patterns of growth appeared to be similar. However, both RH and LH SN children scored less well on tests of cognitive ability and analyses of covariance revealed significant gender/handedness effects for both the timing of puberty and final height. CONCLUSIONS: The increase in left-handedness among SN children did not appear to be related to adverse birth conditions, but it may be that the hormones responsible for growth and development also play some part in brain laterality and cognitive development.

Adolescent↗
PubMed2000

The medical management of adolescent heroin dependence.

The use of heroin by American adolescents is at its highest levels since the heroin epidemic of the 1960s. This clinical perspective reviews medical issues associated with adolescent heroin dependence. Older, as well as potential newer, treatments for adolescent heroin dependence are discussed. Multiple obstacles face a heroin-dependent adolescent who seeks treatment, including a lack of evidenced-based research on pharmacotheraputic agents for this population, strict restrictions on medications with demonstrated efficacy in adults, and a general lack of clinical experience in treating this population.

Adolescent↗
PubMed2000

Congenital radioulnar synostosis in an active duty soldier: case report and literature review.

Congenital radioulnar synostosis (CRS) is a developmental deformity that interferes with pronation and supination of the upper extremity. CRS often results in functional, cosmetic, and cultural limitations. The purpose of this paper is to present a patient with CRS who is currently functioning as a generator mechanic in the U.S. Army and to review the literature for current treatment options. We know of no other individual in the U.S. Army who is on active duty status with this deformity.

Adolescent↗
PubMed1999

Monitoring gene expression profile changes in ovarian carcinomas using cDNA microarray.

The development of cancer is the result of a series of molecular changes occurring in the cell. These events lead to changes in the expression level of numerous genes that result in different phenotypic characteristics of tumors. In this report we describe the assembly and utilization of a 5766 member cDNA microarray to study the differences in gene expression between normal and neoplastic human ovarian tissues. Several genes that may have biological relevance in the process of ovarian carcinogenesis have been identified through this approach. Analyzing the results of microarray hybridizations may provides new leads for tumor diagnosis and intervention.

Cloning, Molecular↗
PubMed1999

Threats to validity in the longitudinal study of psychological effects: the case of short stature.

In all studies of health-related problems and their effects on well-being, research design issues threaten to compromise the validity of findings. This is particularly so in a longitudinal study, essentially stemming from the tension between maintaining participant compliance and retaining investigator objectivity. Such a tension may be exacerbated where measures of dependent variables such as self-esteem are used alongside the collection of physical data which is essential to the study, as in research into the psychological effects of short stature on children and young people. In this paper one particular project, the Wessex Growth Study, is used to illustrate the common threats to validity, both internal and external, of such research, and to consider future improvements in design. The Wessex Growth Study, set up in 1986, was designed to overcome some of the methodological problems found in earlier research with short stature children. It is following the growth and psychological development through their school years of a cohort of short children (below third centile for height when first identified) and case-matched controls (10th-90th centiles) recruited at school entry (ages 5/6). Findings have generally found only small differences between short and average height children. Though these results so far have mainly been presented cross-sectionally, the young people involved are followed up at 6-monthly intervals for height and other data to be collected, and thus to some extent the study also has the advantages and problems of a longitudinal research design. Using Campbell and Stanley's criteria this article makes clear the strain on both internal and external validity in the study, but argues that these problems are to some extent inherent in all longitudinal psychological research, and are outweighed in the present research by the collection of data on short stature which would not otherwise be available. Future data collection within the study will introduce further improvements in design.

Adolescent↗
PubMed1999

Pubertal growth of the short normal girl.

OBJECTIVES: To determine the timing, magnitude and duration of the pubertal spurt for short normal and average height girls, to compare these with Tanner's standard and to investigate predictors of pubertal growth. METHODS: The growth of 46 short normal and 55 control girls, identified at school entry, was monitored throughout puberty. Height and weight were measured at 6-month intervals from which body mass index (BMI) was derived. Annual velocities were calculated and used to estimate the age and magnitude of peak height velocity (PHV). Age of menarche was recorded to the nearest month. Parents provided information on the child's medical and social history. RESULTS: The mean age at PHV, the magnitude of PHV and age at menarche were similar for both groups and close to Tanner's 50th centile values. Pre-pubertal BMI predicted age at menarche for short and control girls, accounting for 17% of the variance. There was a tendency for early maturing girls of average stature to have greater PHV. However, this relationship was not observed in short girls, nor did any other variable, genetic or environmental, predict the timing or magnitude of their pubertal spurt. CONCLUSIONS: Delayed puberty in short normal girls is unlikely and their growth during puberty is comparable to girls of average height. The pubertal variables measured remain close to Tanner's original standards for both groups, suggesting the lack of a secular trend towards earlier puberty in girls. The onset of menstruation is influenced by pre-pubertal BMI. However, the clinician should be aware that short normal girls have normal pubertal growth and that no genetic or environmental variable can predict the timing or magnitude of their growth spurt.

Adolescent↗
PubMed1998

Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region.

To isolate a human disease gene by positional cloning, a critical step is the identification of candidate genes from a targeted genomic region. We used cDNA selection, exon trapping, and genomic sequencing to identify 12 transcription units from a 1.4-Mb genomic region containing the Werner syndrome gene (WRN). This included sequencing of 650 kb in the region of the WRN gene, to date, the most DNA sequenced as part of a positional cloning effort. The result of this combined method was significant overlap among the transcription units identified by each method; yet, no one method identified all of the transcription units. We present here a comparison of the effectiveness and efficiency of these methods and present a transcription map of the Werner syndrome gene region.

Blotting, Northern↗