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Biomedical subjects

N Giles

Publications and source records attributed to N Giles.

At least 19 recordsLinked to original sources
PubMed2006

Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism.

BACKGROUND: It is not known whether those with co-morbid fragile X syndrome (FXS) and autism represent a distinct subtype of FXS; whether the especially severe cognitive delays seen in studies of young children with co-morbid FXS and autism compared with those with only FXS continue into adolescence and young adulthood; and whether autism in those with FXS is 'true autism', i.e. reflects the same underlying problems as idiopathic autism. METHOD: We compared the non-verbal IQ of adolescents and young adults with co-morbid FXS and autism (n = 10) with those with only FXS (n = 44). We then created a subsample of those with FXS only, matched on non-verbal IQ, mental age and gender (n = 21) to the subsample of those with co-morbid FXS and autism. We compared the two groups on measures of expressive language, receptive language (lexical, grammatical morphology and syntactic patterns), and a theory of mind task. RESULTS: Those with co-morbid FXS and autism had lower non-verbal IQs than those with only FXS. The participants with co-morbid FXS and autism did not perform as well as the cognitive ability- and gender-matched participants with only FXS on the three measures of receptive language or the theory of mind task; there were no differences on the expressive language measure. CONCLUSIONS: Our findings support the notion that those with co-morbid FXS and autism represent a distinct subtype of FXS, with more impairment in receptive language and theory of mind even when controlling for their lower non-verbal IQ relative to those with only FXS. The greater cognitive impairments observed in those with co-morbid FXS and autism continues into adolescence and young adulthood; and the autism seen in those with FXS appears to be the same as idiopathic autism.

Adolescent↗
PubMed2006

Psychological well-being of mothers of youth with fragile X syndrome: syndrome specificity and within-syndrome variability.

BACKGROUND: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet criteria for a co-morbid diagnosis of autism. It is likely that parents of youth with fragile X syndrome will experience different degrees and patterns of stress, depending on whether their offspring do or do not have a co-morbid diagnosis of autism. In the present study, we compared mothers of three groups of young males on measures of psychological well-being and stress: those with fragile X syndrome and a co-morbid diagnosis of autism; those with fragile X syndrome alone; and those with Down syndrome. METHOD: The sample consisted of mothers of adolescent and young adult males with fragile X syndrome and co-morbid autism (n=9), fragile X syndrome alone (n=19), and Down syndrome (n=19). We screened all youth for autism using the Autism Behavior Checklist, which was completed by mothers, fathers and teachers, and the youth who scored above the suggested cut-off were evaluated by a licensed psychologist to determine autism status. The three groups of youth did not differ in chronological age (16.4, 15.8 and 16.0 years, respectively) or non-verbal mental age (3.8, 3.9 and 3.8 years, respectively). Several self-report measures were completed by mothers. These measures assessed current mental health status (e.g. the Center for Epidemiological Studies Depression Scale), perceptions of their son's and family's functioning (e.g. the Positive Affect Index, which measures closeness felt by the mother to her son and also reciprocated closeness felt by the son towards the mother, as perceived by the mother), and approach to coping with their son's disability [e.g. the Multidimensional Coping Inventory (COPE), which measures emotion-focused and problem-solving focused coping]. RESULTS: The results suggest that fragile X syndrome creates more challenges to maternal psychological well-being than Down syndrome, and that the combination of fragile X syndrome and autism can be particularly challenging. Differences among groups, however, were manifested mainly as concerns about the affected son and about relationships within the family rather than as lower levels of mental health. Thus, mothers of sons with fragile X syndrome, regardless of the son's autism status, reported more pessimism about the son's future and more conflict within the family than mothers of sons with Down syndrome. Additionally, mothers of sons with fragile X syndrome and co-morbid autism reported lower levels of reciprocated closeness than the other two groups of mothers. CONCLUSION: We consider possible causes of these maternal differences, the implications for clinical practice, needs for future research, and the importance of understanding child and contextual factors as well as the dynamics leading to these differences.

Adaptation, Psychological↗
PubMed2004

Effect of the motilin agonist KC 11458 on gastric emptying in diabetic gastroparesis.

BACKGROUND: KC 11458, a motilin agonist without antibiotic properties, accelerates gastric emptying in animals and healthy humans. AIM: To evaluate the acute effects of KC 11458 on gastric emptying in diabetic gastroparesis. METHODS: Twenty-nine patients (6 type 1 and 23 type 2) with gastroparesis underwent assessments of: (i) gastric emptying of a solid/liquid meal using scintigraphy, (ii) glycaemic control (blood glucose at 0, 30, 60, 90 and 120 min during the gastric emptying measurement) and (iii) upper gastrointestinal and 'meal-related' symptoms (questionnaire), at baseline and after treatment with KC 11458 in a dose of 8 mg t.d.s., or placebo for 8 days. RESULTS: KC 11458 had no statistically significant or clinically relevant effect on gastric emptying of either the solid intragastric retention at 100 min (T100) (P = 0.87) or liquid 50% emptying time (T50) (P = 0.17) components of the meal. KC 11458 slightly worsened (P = 0.04) upper gastrointestinal symptoms when compared with placebo. The magnitude of the change in solid gastric emptying correlated with the change in the blood glucose concentration (r = 0.49; P < 0.05). CONCLUSIONS: KC 11458, in a dose of 8 mg t.d.s. for 8 days, does not accelerate gastric emptying in patients with diabetic gastroparesis. The absence of efficacy may relate to an effect of hyperglycaemia.

Autonomic Nervous System Diseases↗
PubMed2003

Development and validation of the Diabetes Bowel Symptom Questionnaire.

BACKGROUND: Although gastrointestinal symptoms occur frequently, there is no validated measure of gastrointestinal symptoms in patients with diabetes mellitus. AIM: To develop the Diabetes Bowel Symptom Questionnaire. METHODS: A questionnaire derived from previously validated symptom measures was compiled to assess all relevant gastrointestinal and diabetes items. Face and content validity were ascertained by expert review. One hundred and sixty-eight patients with diabetes mellitus completed the instrument, and reliability was evaluated by a test-re-test procedure 1 week later. Concurrent validity was evaluated by an independent physician interview (n = 33). Measures of glycaemic control (glycated haemoglobin and plasma glucose) were compared with self-reported glycaemic control on a five-point Likert scale in diabetic out-patients (n = 166). RESULTS: The questionnaire had adequate face and content validity. There was good to excellent test-re-test reliability for the gastrointestinal and diabetes items (median kappa: 0.63 and 0.79, respectively); concurrent validity was good to excellent (median kappa: 0.47 and 0.65, respectively), except for the items assessing the severity of gastrointestinal symptoms. Both glycated haemoglobin (P < 0.0001) and plasma glucose (P = 0.005) correlated significantly with self-reported glycaemic control. CONCLUSION: The Diabetes Bowel Symptom Questionnaire appears to be a useful measure of gastrointestinal symptoms and glycaemic control in diabetes mellitus, and should have applicability in epidemiological and clinical studies.

Adult↗
PubMed2002

Relationships between intestinal calcium absorption, serum vitamin D metabolites and smoking in postmenopausal women.

Smoking has been associated with low bone density, fractures and poor intestinal calcium absorption. Calcium absorption is a critical factor in calcium balance in postmenopausal women but the mechanisms causing decreased absorption efficiency in postmenopausal smokers are controversial and poorly defined. We performed a cross-sectional study of 405 postmenopausal women attending a clinic for the management of osteoporosis to compare intestinal calcium absorption efficiency, serum vitamin D metabolites and parathyroid hormone levels in postmenopausal women who had never smoked, who were smokers previously or who were current smokers, to examine the relationships between these variables in smokers. Two hundred and fifty-two of the women had never smoked, 79 had smoked previously and 74 were current smokers. The hourly fractional rate of calcium absorption was similar in non-smokers and those who had previously smoked. Radiocalcium absorption was less in the 74 smokers compared with the 331 non-smokers [0.60 (0.29 SD) vs 0.71 (0.27); p = 0.004], as were serum calcitriol (p<0.001) and parathyroid hormone (PTH) (p<0.01). There was no difference in the relationship between calcium absorption and serum calcitriol between smokers (r = 0.38) and non-smokers (r = 0.28); hence the impaired calcium absorption in the smokers was almost entirely attributable to suppression of the PTH-calcitriol endocrine axis. In postmenopausal women smoking is associated with a reduction in calcium absorption efficiency due to suppression of the PTH-calcitriol axis. This impairment of calcium absorption could lead to accelerated bone loss and limit the usefulness of dietary calcium supplementation.

Aged↗
PubMed2001

Malignant thymic carcinoid is not prevented by transcervical thymectomy in multiple endocrine neoplasia type 1.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant tumour syndrome. It is characterized by primary hyperparathyroidism, pituitary neoplasia and foregut lineage neuroendocrine neoplasia. Malignant thymic carcinoid tumours are an uncommon but important manifestation of MEN 1. Transcervical thymectomy is often advocated as prophylaxis against thymic carcinoids, although there is a paucity of evidence to support the efficacy of this procedure. This is the first report of a malignant thymic carcinoid occurring in an MEN 1 patient following prior parathyroidectomy and transcervical thymectomy. It is concluded that transcervical thymectomy does not reliably provide prophylaxis against thymic carcinoid.

Adolescent↗
PubMed1998

An unusual case of microangiopathic haemolytic anaemia associated with enterohaemorrhagic Escherichia coli O113:H21 infection, a verocytotoxin-2/shiga toxin-2 producing serotype.

A case of microangiopathic haemolytic anaemia and thrombocytopaenia in a 79-year-old woman is presented. The case is unusual in that diarrhoeal symptoms were brief and symptoms of anaemia caused her to re-present to hospital 6 days after the diarrhoea had ceased. Enterohaemorrhagic Escherichia coli O113:H21 producing shiga toxin-2 was isolated from a faecal specimen. This serotype has been reported only a few times to be associated with serious disease. However, it is amongst the 20 most common serotypes carried in cattle and found in beef. This case also illustrates the importance of using shiga-toxin gene detection in faecal cultures (as opposed to cultural methods for detection of the O157:H7 serotype) as the recommended investigation of human disease for accurate epidemiology and attribution of cause.

Aged↗
PubMed1989

Persistence of S. typhimurium in a large dairy herd.

Salmonella typhimurium 49a infection in a large dairy herd persisted for 3.5 years. Illness initially occurred in cows and calves but latterly although there were fewer clinical cases milk filters were culturally positive on 26 out of 73 samplings. Three associated human disease incidents occurred. Individual milk samples identified one cow as an excreter and the organism was recovered from the mammary gland of this animal at slaughter. Correlation between calving pattern, the times of calving and the occurrence of positive milk filters suggest that the cow may have been excreting the organism intermittently from the udder for 2.5 years.

Animals↗
PubMed1983

Isolation of Leptospira interrogans serovar hardjo from a viable premature calf.

A severe outbreak of agalactia in a dairy herd of 80 cows was followed by six premature calvings and an abortion. Serological and bacteriological studies identified Leptospira hardjo as the probable cause. A leptospire isolated from the kidney of a premature calf killed seven weeks post partum was identified as hardjo and it is probable that this infection was acquired in utero. The maintenance of such an infection for a considerable period after birth has not been previously described and may play a role in the transmission of hardjo to susceptible in-contact animals.

Abortion, Veterinary↗