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Biomedical subjects

M O'Regan

Publications and source records attributed to M O'Regan.

At least 19 recordsLinked to original sources

The Stroke Activity Scale: results of a validity study.

PURPOSE: To establish the concurrent validity and time to complete of the Stroke Activity Scale (SAS) a recently developed stroke motor disability scale designed for use in a busy clinical setting. METHOD: Forty-one stroke patients with residual hemiplegia were recruited and assessed on a single occasion using both the SAS (five items) and modified Motor Assessment Scale (MMAS) (eight items) by a research physiotherapist. Performance was videotaped and assessed subsequently by a second physiotherapist. RESULTS: Pearson's correlation coefficient between the two measures was 0.91. The SAS was significantly quicker to complete than the MMAS (2.8 vs. 10.4 min, p < 0.0001). CONCLUSION: The SAS had high concurrent validity with the MMAS but was much quicker to complete and therefore more suitable for use in clinical environments where time is at a premium.

Activities of Daily Living↗

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. RESULTS: Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett-like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto-temporal predominance and high amplitudes. CONCLUSIONS: The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.

Adolescent↗

An 8 year study of risk factors for SIDS: bed-sharing versus non-bed-sharing.

BACKGROUND: It is unclear if it is safe for babies to bed share with adults. In Ireland 49% of sudden infant death syndrome (SIDS) cases occur when the infant is bed-sharing with an adult. OBJECTIVE: To evaluate the effect of bed-sharing during the last sleep period on risk factors for SIDS in Irish infants. DESIGN: An 8 year (1994-2001) population based case control study of 287 SIDS cases and 831 controls matched for date, place of birth, and sleep period. Odds ratios and 95% confidence intervals were calculated by conditional logistic regression. RESULTS: The risk associated with bed-sharing was three times greater for infants with low birth weight for gestation (UOR 16.28 v 4.90) and increased fourfold if the combined tog value of clothing and bedding was > or =10 (UOR 9.68 v 2.34). The unadjusted odds ratio for bed-sharing was 13.87 (95% CI 9.58 to 20.09) for infants whose mothers smoked and 2.09 (95% CI 0.98 to 4.39) for non-smokers. Age of death for bed-sharing and sofa-sharing infants (12.8 and 8.3 weeks, respectively) was less than for infants not sharing a sleep surface (21.0 weeks, p<0.001) and fewer bed-sharing cases were found prone (5% v 32%; p = 0.001). CONCLUSION: Risk factors for SIDS vary according to the infant's sleeping environment. The increased risk associated with maternal smoking, high tog value of clothing and bedding, and low z scores of weight for gestation at birth is augmented further by bed-sharing. These factors should be taken into account when considering sleeping arrangements for young infants.

Adult↗

Guidelines for the medical management of Irish children and adolescents with Down syndrome.

Down syndrome (DS) is the most common chromosomal cause of developmental disability in Ireland. Children with DS have a high incidence of associated treatable medical disorders where early intervention carries a better outcome. Currently there are no agreed protocols for the screening and management of children and adults with DS in Ireland. A cross-sectional study of 394 children and adolescents was undertaken in the Eastern Regional Health Authority (ERHA) to assess the medical needs of children and adolescents with DS, in order to develop medical management guidelines. This study provides evidence-based data that children and adolescents with DS have a high incidence of treatable medical disorders, which supports the need for the medical management guidelines presented.

Adolescent↗

Validating the Orpington Prognostic Score in an Irish in-patient stroke population.

An accurate assessment of stroke severity and the ability to predict prognosis is important for determining rehabilitation needs and long term management of patients after stroke. The Orpington Prognostic Score (OPS) is a clinically derived stroke severity scale that can be used to stratify patients into different severity groups. The aim of this study was to validate the Orpington Prognostic Score (OPS) in an Irish in-patient stroke population. Fifty 'first stroke' patients (21 male, median age 72.5 [range 31-93] years) were assessed within two weeks following stroke onset. Subjects were stratified into mild, moderate and severe groups using previously established cut-offs for the OPS. Outcomes were determined prospectively and compared to initial severity groups. Patients in the severe group had a significantly increased chance of dying (Odds ratio [95%CI] 2.16 [1.72-2.72] and this persisted after adjustment for age and gender. Length of stay increased significantly with increasing stroke severity group (F ratio 7.0 p=0.0025) and this association remained after adjusting for age and gender. The odds of being discharged home or of being able to walk independently by time of discharge decreased significantly (all p<0.001) as stroke severity increased and adjusting for age and gender did not alter these associations. A higher OPS score within 2 weeks of stroke onset was significantly associated with longer length of stay, increased mortality, reduced mobility at discharge and a reduced likelihood of discharge home. The OPS is a valid measure of stroke severity in Irish stroke in-patients.

Aged↗

Ocular toxocariasis in schoolchildren.

Ocular toxocariasis in humans is typically a unilateral disease caused by second-stage larvae of the Toxocara species. Serological evidence of widespread infection in humans provides little information on clinical disease. There is only a single previous estimate of the prevalence of ocular toxocariasis (from Alabama). The present survey examined the extent of consultant-diagnosed toxocaral eye disease among a population of schoolchildren. More than 120,000 participants were surveyed by questionnaire and follow-up. Two sets of control subjects from the same school and from the same county were compared with persons who had ocular toxocariasis. The prevalence of consultant-diagnosed toxocaral eye disease was 6.6 cases per 100,000 persons when only cases regarded as definite by the consultant ophthalmologist were included. This increased to 9.7 cases per 100,000 persons when both definite and strongly suspected cases were included. Geophagia and a history of convulsion were associated with toxocaral eye disease in both of the case-control studies.

Adolescent↗

A multivariate "time based" analysis of SIDS risk factors.

AIMS: To investigate the influence of analytical design on the variability of published results in studies of sudden infant death syndrome (SIDS). METHODS: The results of a prospective case-control study, of 203 cases of SIDS, and 622 control infants are presented. All variables significant on univariate analysis were included in a multivariate model analysed in nine stages, starting with sociodemographic variables, then sequentially and cumulatively adding variables relating to pregnancy history, current pregnancy, birth, the interval from birth to the week prior to death, the last week, the last 48 hours, and the last sleep period. A ninth stage was created by adding placed to sleep prone for the last sleep period. RESULTS: As additional variables are added, previously published SIDS risk factors emerged such as social deprivation, young maternal age, > or =3 previous live births, maternal smoking and drinking, urinary tract infection in pregnancy, reduced birth weight, and the infant having an illness, regurgitation, being sweaty, or a history of crying/colic in the interval from birth to the week before death, with co-sleeping and the lack of regular soother use important in the last sleep period. As the model progressed through stages 1-9, many significant variables became non-significant (social deprivation, young maternal age, maternal smoking and drinking) and in stage 9 the addition of placed to sleep prone for the last sleep period caused > or =3 previous live births and a reduced birth weight to become significant. CONCLUSION: The variables found to be significant in a case-control study, depend on what is included in a multivariate model.

Birth Weight↗

Gratification disorder ("infantile masturbation"): a review.

BACKGROUND: Little has been published on gratification disorder ("infantile masturbation") in early childhood. AIMS: To expand on the profile of patients diagnosed with this condition. METHODS: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. RESULTS: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. CONCLUSION: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

Child, Preschool↗

A new stroke activity scale-results of a reliability study.

PURPOSE: To investigate the internal consistency, inter-rater and intra-rater reliability of a disability stroke activity scale (SAS) for stroke patients. Its intended use is as a measure of motor function at the level of disability in stroke patients. METHOD: Twelve stroke in-patients were video-recorded performing the five activities from the SAS. Seven senior physiotherapists, experienced in stroke care, independently rated the recordings on two occasions, three weeks apart, using the SAS. Twelve hospital inpatients participated in the study. The subjects were aged between 48 and 86 and were between 6 and 87 days post stroke. RESULTS: Reliability for total scores was found to be excellent (generalizability correlation co-efficient (GCC) values> or =0.95) and reliability for individual item scores was good (kappa> or =0.7). Internal consistency reliability using Cronbach's alpha was also good (0.68 at time 1 and 0.68 at time 2). CONCLUSION: The stroke activity scale is a reliable instrument for hospital stroke patients. It can be administered in less than 10 minutes and requires minimal equipment and training. Further work on the validity and responsiveness of the SAS is in progress.

Activities of Daily Living↗

Delivery times for caesarean section at Queen Elizabeth Central Hospital, Blantyre, Malawi: is a 30-minute 'informed to start of operative delivery time' achievable?

A timesheet questionnaire was used to assess the time it took from informing the anaesthetist about a case to the start of operative delivery in 78 consecutive patients undergoing caesarean section. Median (IQR [range]) times for grade-1 cases (immediate threat to the life of the mother or fetus) and grade-2 cases (fetal or maternal compromise without immediate threat to life) were 20 (17-35 [6-75]) min and 41 (27-60 [17-136]) min, respectively. Delays occurred in all the component time intervals examined. The primary avoidable delay was the patient's late arrival in theatre. Many significant delays were apparently not perceived by the anaesthetist. In nine (69%) grade-1 cases, the 30-min target decreed by the Association of Anaesthetists of Great Britain & Ireland and the Obstetric Anaesthetists' Association was achieved.

Anesthesia, Obstetrical↗

Factors relating to the infant's last sleep environment in sudden infant death syndrome in the Republic of Ireland.

AIM: To identify risk factors for sudden infant death syndrome (SIDS) in the sleeping environment of Irish infants. METHODS: A five year population based case-control study with parental interviews conducted for each case and three controls matched for age, place of birth, and last sleep period. A total of 203 SIDS cases and 622 control infants born 1994-98 were studied. RESULTS: In a multivariate analysis, co-sleeping significantly increased the risk of SIDS both as a usual practice (adjusted OR 4.31; 95% CI 1.07 to 17.37) and during the last sleep period (adjusted OR 16.47; 95% CI 3.73 to 72.75). The associated risk was dependent on maternal smoking (OR 21.84; 95% CI 2.27 to 209.89), and was not significant for infants who were > or =20 weeks of age (OR 2.63; 95% CI 0.49 to 70.10) or placed back in their own cot/bed to sleep (OR 1.07; 95% CI 0.21 to 5.41). The use of pillows, duvets, and bedding with tog value > or =10 were not significant risk factors when adjusted for the effects of confounding variables, including maternal smoking and social disadvantage. However, the prone sleeping position remains a significant SIDS risk factor, and among infants using soothers, the absence of soother use during the last sleep period also significantly increased the SIDS risk (OR 5.83; CI 2.37 to 14.36). CONCLUSION: Co-sleeping should be avoided in infants who are <20 weeks of age, or whose mothers smoked during pregnancy. The prone position remains a factor in some SIDS deaths, and the relation between soother use and SIDS is a complex variable requiring further study.

Beds↗

Characterization of algG encoding C5-epimerase in the alginate biosynthetic gene cluster of Pseudomonas fluorescens.

The organization of the alginate gene cluster in Pseudomonas fluorescens was characterized. A bank of genomic DNA from P. fluorescens was mobilized to a strain of Pseudomonas aeruginosa with a transposon insertion (algJ::Tn501) in the alginate biosynthetic operon that rendered it non-mucoid. Phenotypic complementation in this heterologous host was observed, and a complementing clone containing 32 kb of P. fluorescens DNA was obtained. Southern hybridization studies showed that genes involved in alginate biosynthesis (e.g. algD, algG, and algA) were approximately in the same order and position as in P. aeruginosa. When the clone was mobilized to a P. aeruginosa algG mutant that produced alginate as polymannuronate due to its C5-epimerase defect, complementation was observed and the alginate from the recombinant strain contained L-guluronate as determined by proton nuclear magnetic resonance spectroscopy. A sequence analysis of the P. fluorescens DNA containing algG revealed sequences similar to P. aeruginosa algG that were also flanked by algE- and algX-like sequences. The predicted AlgG amino acid sequence of P. fluorescens was 67% identical (80% similar) to P. aeruginosa AlgG and 60% identical (76% similar) to Azotobacter vinelandii AlgG. As in P. aeruginosa, AlgG from P. fluorescens appeared to have a signal sequence that would localize it to the periplasm where AlgG presumably acts as a C5-epimerase at the polymer level. Non-polar algG knockout mutants of P. fluorescens were defective in alginate production, suggesting a potential role for this protein in polymer formation.

Alginates↗

Identification, mapping, and phylogenetic analysis of three novel chicken CC chemokines.

We have identified three novel chicken CC chemokine genes among cDNA clones derived from lipopolysaccharide-stimulated cells of the chicken macrophage cell line HD11. Two of these chemokines show DNA sequence homology to the mammalian genes SCYA20 (MIP-3alpha) and SCYA5 (RANTES), while the third shows similar levels of homology to several mammalian CC chemokines. Sequencing of genomic DNA showed that all three chicken chemokines possess the three-exon structure and conserved intron positions typical of mammalian CC chemokines. Genetic mapping of the three chicken chemokines locates them in three chromosomal regions which correspond to regions containing homologous chemokines in humans. Phylogenetic analysis of the currently known chicken and human chemokines suggests that individual chicken and human chemokines derive from common ancestral genes in patterns that reflect their genomic positions, indicating that the diversity of chemokine genes pre-dated avian-mammalian divergence. Since the function of the chemokines is principally to act as intermediates between stimulated cells and specific subsets of responding immune cells, this suggests that the complex organization of the immune system and diversity of responding cells were largely in place at that time.

Animals↗

Cigarette smoking and psychotic symptoms in bipolar affective disorder.

BACKGROUND: An association exists between smoking and schizophrenia, independent of other factors and related to psychotic symptomatology. AIMS: To determine whether smoking is associated with psychosis in bipolar affective disorder. METHOD: Smoking data were collected from 92 unrelated patients with bipolar affective disorder. An ordinal logistic regression analysis tested the relationship between smoking severity and psychotic symptomatology, allowing for potential confounders. RESULTS: A significant relationship was detected between smoking/heavy smoking and history of psychosis (68.7%, n=44). Smoking was less prevalent in patients who were less symptomatic (56.5%, n=13) than in patients with a more severe psychosis (75.7, n=31). Prevalence and severity of smoking predicted severity of psychotic symptoms (P=0.001), a relationship independent of other variables (P=0.0272). CONCLUSION: A link between smoking and psychosis exists in bipolar affective disorder and may be independent of categorical diagnosis.

Adult↗

Concentrations of antimony in infants dying from SIDS and infants dying from other causes.

OBJECTIVES: Raised concentrations of antimony have been found in infants dying of sudden infant death syndrome (SIDS). The presumed source of this antimony is toxic gases generated from fire retardants that are present in cot mattresses. The aim of this study was to determine the role of antimony in SIDS. DESIGN: Samples of liver, brain, serum, and urine were collected from all patients dying from SIDS and a group of aged matched control infants who had died of other causes. SETTING: Nationwide study in Ireland. SUBJECTS: 52 infants dying from SIDS and 19 control infants aged > 7 days and < 1 year. RESULTS: The median concentration of antimony in the liver and brain of infants dying of SIDS was < 1 ng/g, with no difference detected between the infants dying from SIDS and the control infants. The range of antimony in the serum of infants dying of SIDS was 0.09-0.71 microg/litre (median, 0.26). Although no difference was found between infants dying from SIDS and control infants, SIDS infants were found to have higher concentrations when compared with healthy infants in the 1st year of life, probably as a result of release of antimony into serum after death. Urine antimony concentrations in infants dying from SIDS were < 3.91 ng/mg (corrected for creatinine) and similar to values found both in control infants and healthy infants. CONCLUSION: There is no evidence to support a causal role for antimony in SIDS.

Antimony↗

Feeding infants - an investment in the future.

Because nutrition during infancy not only determines growth but also impacts on future adult health, it is essential that healthy eating habits be promoted from a very young age. This study examines current feeding practices among Irish infants in the first year of life. Although 51% of Irish mothers commenced breast-feeding their infants at birth, the number of women who continued to breast-feed their infants at 3 months of age was among the lowest in Europe. Over two-thirds of infants (70%) received some formula by 4 weeks of age and the majority of infants changed formulas at least once or twice in the first year. The use of follow-up milk formulas was particularly prevalent in Ireland. Only 16% of infants were given unmodified cow's milk in their first year of life but none had been prescribed supplemental iron or vitamins. On average, Irish infants were weaned between 3 and 4 months of age but few families used home-prepared foods in the initial weaning period. Areas for future intervention include the encouragement of a longer duration of breast-feeding, appropriate vitamin and iron supplementation and the promotion of home-prepared foods.

Adult↗