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Biomedical subjects

H Hoey

Publications and source records attributed to H Hoey.

16 recordsLinked to original sources

Social, communicational, and behavioral deficits associated with ring X turner syndrome.

We describe the cognitive and behavioral characteristics of five individuals with a ring X chromosome. All subjects had a small active (early replicating) ring X chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X.

Adolescent

Insulin management and metabolic control of type 1 diabetes mellitus in childhood and adolescence in 18 countries. Hvidøre Study Group on Childhood Diabetes.

Insulin regimens and metabolic control in children and adolescents with Type 1 diabetes mellitus were evaluated in a cross-sectional, non-population-based investigation, involving 22 paediatric departments, from 18 countries in Europe, Japan, and North America. Blood samples and information were collected from 2873 children from March to August 1995. HbA1c was determined once and analysed centrally (normal range 4.4-6.3%, mean 5.4%). Year of birth, sex, duration of diabetes, height, body weight, number of daily insulin injections, types and doses of insulin were recorded. Average HbA1c in children under 11 years was 8.3 +/- 1.3% (mean +/- SD) compared with 8.9 +/- 1.8% in those aged 12-18 years. The average insulin dose per kg body weight was almost constant (0.65 U kg(-1) 24 h(-1)) in children aged 2-9 years for both sexes, but there was a sharp increase during the pubertal years, particularly in girls. The increase in BMI of children with diabetes was much faster during adolescence compared to healthy children, especially in females. Sixty per cent of the children (n = 1707) used two daily insulin injections while 37% (n = 1071) used three or more. Of those on two or three injections daily, 37% used pre-mixed insulins, either alone or in combination with short- and intermediate-acting insulin. Pre-adolescent children on pre-mixed insulin showed similar HbA1c levels to those on a combination of short- and long-acting insulins, whereas in adolescents significantly better HbA1c values were achieved with individual combinations. Very young children were treated with a higher proportion of long-acting insulin. Among adolescent boys, lower HbA1c was related to use of more short-acting insulin. This association was not found in girls. We conclude that numerous insulin injection regimens are currently used in paediatric diabetes centres around the world, with an increasing tendency towards intensive diabetes management, particularly in older adolescents. Nevertheless, the goal of near normoglycaemia is achieved in only a few.

Adolescent

Sibling incest in a clergy family: a case study.

A case study is presented of a female adult survivor of childhood sexual abuse where the perpetrator was her older brother. The children belonged to a clergy family where the father was a clergyman in a mainstream Christian church. The family dynamics are described, emphasizing the physically absent father, the emotionally distant mother, and the surrogate parent status of the perpetrator. The victim's adult years are described, revealing recurrent failures both socially and in the workplace, and a general dissatisfaction with life. Her several attempts to seek appropriate help are described. Eventually, one of these proved successful, and the victim's emotional outlook was transformed into that of a survivor. She is now able to view the world from a contented and achieving aspect. Her experiences of disclosing the abuse to her parents and confronting the church hierarchy are described. Concern is expressed at the perceived inappropriateness of some of the professional assistance the victim was offered as she came to terms with her experience of sibling incest.

Adaptation, Psychological

Adenovirus 12 E1A gene detection by polymerase chain reaction in both the normal and coeliac duodenum.

A 12 amino acid sequence from the adenovirus 12 E1B protein is homologous at the protein level with a similar 12-mer derived from the wheat protein A-gliadin. It has been suggested that exposure to Ad 12 could sensitise individuals to gliadins with resultant gluten sensitive enteropathy. In this study, the polymerase chain reaction (PCR) was used to analyse duodenal biopsy tissue from patients with coeliac disease for the presence of Ad 12. The sensitivity of the assay system was at least 1 in 10(5) cells and specificity was confirmed both by probing with an internal oligonucleotide and by direct sequencing. Ad 12 sequences were detected in three of 17 patients with adult coeliac disease and in five of 16 adult controls with normal duodenal biopsies. Since exposure to the virus would be predicted to occur in infancy we also studied patients with childhood coeliac disease diagnosed at less than 1 year of age. Ad 12 was positive in three of 10 childhood coeliac patients and one of seven controls. In addition, we studied a cohort of patients who presented with a diarrhoeal illness and associated anti alpha gliadin antibodies in 1983. These patients had duodenal biopsies performed at this time. One of three patients with abnormal histology had detectable Ad 12 while two of 14 with normal findings were positive for Ad 12. Finally, the potential oncogenic nature of Ad 12 prompted examination of a group of patients with intestinal tumours. Ad 12 DNA was, however, in only two of 19 tumour samples tested. These data indicate that Ad 12 can be successfully detected using PCR on paraffin embedded tissue. Furthermore, Ad 12 was detected at a relatively high level in normal duodenum. The results do not, however, support the hypothesis that prior exposure to Ad 12 is implicated in the pathogenesis of coeliac disease.

Adenocarcinoma

Growth and other factors affecting peak expiratory flow rate.

By means of a simple questionnaire and measurements of height, weight, and peak expiratory flow rates 3061 children from city and rural populations were studied. Children with asthma or other respiratory diseases had lower peak expiratory flow rates, and younger children living in rural areas had higher rates. In 2828 healthy children the peak expiratory flow rate increased with age, height, and weight. There was an increase in the slope of this line for both age and height--at 12 years and 145 cm in girls, and at 14 years and 155 cm in boys. This continued for two to three years and 15 cm, respectively, before it declined. Previous surveys have obscured this change associated with height by reporting small numbers and using linear regression analysis. This type of analysis can underestimate the mean peak expiratory flow rate of small children by half to one standard deviation. A centile graph against age is recommended to describe normal values and their differences.

Adolescent

Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism.

We report two siblings with 46XX hermaphroditism in whom we were unable to show the presence of Y specific DNA sequences using the DNA probes Y-190, GMGY-7, pHY2.1, pDP34, and 27a. We conclude that an autosomal or X chromosome gene mutation is the most likely mechanism of inheritance in this family with 46XX hermaphroditism.

DNA

Prescribing patterns in agoraphobia with panic attacks.

Although medication is used commonly in the treatment of agoraphobia with panic attacks, the actual drug-prescribing patterns of the medical profession have not been well studied in this condition. The present study compares the prescribing patterns of general practitioners and psychiatrists in their treatment of agoraphobia with panic attacks. The medical records of 111 agoraphobic patients with panic attacks were analysed and divided into those who were referred by general practitioners and those who were referred by psychiatrists. Over all, in the treatment of agoraphobia with panic attacks, general practitioners prescribed drugs less often than did psychiatrists. They used fewer combinations of drugs and tended to prescribe tricyclic antidepressant agents in doses which generally are considered to be below the therapeutic range. This finding would suggest that general practitioners are less effective than are psychiatrists in prescribing for this condition as judged by current practice, although they are less likely to prescribe combinations of drugs--a practice which might well be to their credit.

Adult

Plasma biogenic amine levels in agoraphobia with panic attacks.

Eight patients with agoraphobia and panic attacks as defined by DSMIII and 11 controls were included in this study which measured the circulating biogenic amine levels. The method of assay used a high performance liquid chromatograph with electrochemical detection. Measurement of dopamine, noradrenaline and adrenaline showed no differences between the groups. Levels of serotonin (5-HT) were significantly lower in the agoraphobic group. The authors discuss the implication of this finding.

Adult

Effect of a selective serotonin uptake inhibitor in agoraphobia with panic attacks. A double-blind comparison of zimeldine, imipramine and placebo.

A double-blind clinical trial of zimeldine, a potent inhibitor of central serotonin reuptake, versus imipramine and placebo was carried out on 44 patients suffering from agoraphobia with panic attacks. Zimeldine was a superior treatment on all rating scales other than a global rating scale which did not reach statistically significant superiority. Imipramine was not shown to be superior to placebo. The implications of these results for further research on the underlying pathophysiology of agoraphobia with panic attacks are discussed.

Adult