Menkes disease: A rare cause of bilateral inguinal hernias

This case of Menkes disease presented with the uncommon association of bilateral inguinal hernias at the age of 4 months. Further investigation demonstrated classical skeletal and neurological changes of this rare neurodegenerative disorder.     

Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity

BACKGROUND: The prevalence of thyroid disease is increased in Down's syndrome. Most available data come from cross sectional studies. AIMS: To study longitudinally thyroid function in patients with Down's syndrome in Uppsala county (85 patients) up to the age of 25 years. METHODS: Observational study based on yearly follow up in a children's clinic. Thyroid function tests were performed at each visit to the clinic. RESULTS: Hypothyroidism was found in 30 and hyperthyroidism was found in two of the 85 patients. No sex difference was seen. Half of the patients with hypothyroidism acquired the condition before the age of 8 years, but only one of them displayed thyroid autoantibodies at diagnosis. Most patients who developed hypothyroidism after this age had thyroid autoantibodies. In the prepubertal patients with hypothyroidism, growth velocity was lower during the year before the start of thyroxine treatment than during the year after treatment began; it was also lower than that of sex and age matched euthyroidic children with Down's syndrome. CONCLUSION: Thyroid dysfunction in patients with Down's syndrome is common in childhood. Consequently, annual screening is important. Autoimmune thyroid disease is uncommon in young children with Down's syndrome but is common after 8 years of age.     

Body mass index centile charts to assess fatness of British children

Body mass index (BMI) relates weight to height and reflects the shape of a child, but because of age dependency it has not been used conventionally for the estimation of fatness in children. From measurements of Tayside children (n = 34,533) centile charts were constructed for BMI (wt/ht2) from the raw data of height and weight, using Cole's LMS method for normalised growth standards. These data were compared with the only available European BMI charts published from data of French children obtained over a period of 24 years from 1956-79. British children appear to be 'fatter'. Within a subgroup (n = 445) the BMI values were correlated with estimations of body fat, for boys and girls, from skinfold thickness (r = 0.8 and 0.81) and bioelectrical impedance (r = 0.65 and 0.7). The limits of acceptable BMI have yet to be defined.     

Urinary excretion of cortisol after immunisation

Urinary cortisol excretion and rectal temperature were measured in 66 infants before and after immunisation against diphtheria, tetanus, pertussis, and Haemophilus influenzae type b. Immunisation produced a significant increase of rectal temperature the next night at all ages. Infants without an adult-like night time body temperature pattern had a significant increase in urinary cortisol excretion night and morning after immunisation. Once an adult-like night time body temperature pattern developed immunisation no longer significantly raised urinary cortisol output.     

Factors affecting rectal temperature in infancy

The recordings of 1197 overnight rectal temperatures from infants of up to 24 weeks of age have been analysed with respect to 12 variables, including a number of risk factors for sudden infant death syndrome. Multivariable regression was used to identify if parental smoking, bottle feeding, sleeping position, and birth weight affect the overnight rectal temperature of infants. The rectal temperature, averaged over the period from three to five hours after the infants were put to bed, correlated well (R = 0.36) with the collected variables. An increase in the infant's age, birth weight, and the supine sleeping position all decreased the night time rectal temperatures. However, an increase in the night time room temperature, weight, and the combination of bottle feeding and parental smoking produced an increase in rectal temperature. The individual effects of bottle feeding and parental smoking were not significant. The results show that some of the major risk factors have the effect of raising the rectal temperature of sleeping infants.     

Risk of endometrial cancer following cessation of menopausal hormone use (Washington, United States)

While there are a number of benefits to the health of postmenopausal women from use of unopposed estrogens, the increased risk of endometrial cancer related to these hormones has led many women to use combined estrogen-progestogen therapy instead, or not to use hormones at all. Most women who take hormones do so only in the early portion of their postmenopausal years, so the risk of endometrial cancer following cessation of use might bear heavily on the overal risk/benefit evaluation. We analyzed data from a case-control study of women in western Washington (United States) to assess the magnitude of excess risk of endometrial cancer following discontinuation of estrogen use. Cases (n=661) consisted of women aged 45 to 74 diagnosed between 1985 and 1991 who resided in one of three counties in Washington State. Controls (n=865) were identified by random-digit dialing. Subjects were interviewed in-person to ascertain current and prior hormone use. The analysis was restricted to women who had not received combined estrogen-progestin therapy. Among women who had used unopposed estrogens at some time, risk of endometrial cancer declined as time since last use increased. Nonetheless, even among women who used these hormones for just a few years, the risk remained elevated by 30 to 70 percent almost a decade after cessation. These results, combined with those of most (but not all) other studies of this issue, suggest that a woman who has discontinued unopposed estrogen therapy may retain a small increased risk of endometrial cancer for a long period of time.Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, the Department of Epidemiology, University of Washington Department of Biostatistics University of Washington, Seattle, WA. Department of Epidemiology, University of Washington, Seattle, WA 98195, USA. This research was supported by US National Cancer Institute contracts R01 CA47749 and R35 CA39779.     

Low dose rate teletherapy: Updated tumour response

This report presents an update of tumour response experience in patients with locally advanced head and neck cancer treated on the low dose rate teletherapy project at the Mater Misericordiae Hospital, Newcastle. Long-term progression-free survival figures are disappointing in all dose rate/total dose groupings and offer little encouragement that an improvement in therapeutic ratio can be achieved for head and neck cancer patients using teletherapy apparatus adjusted to treat at low and intermediate dose rates.     

Accuracy of central venous pressure measurements in the inferior vena cava in the ventilated child

Murdoch IA, Rosenthal E, Huggon IC, Coutinho W, Qureshi SA. Accuracy of central venous pressure measurements in the inferior vena cava in the ventilated child. Acta Pædiatr 1994;83:512–14. Stockholm. ISSN 0803–5253
We compared central venous pressure measurements from three sites, superior vena cava, inferior vena cava and right atrium, in 12 children undergoing cardiac catheterization whilst on assisted ventilation. There was no significant difference between the mean pressures in the superior vena cava and the inferior vena cava. Furthermore, there was also no difference between the mean pressures in the inferior vena cava and the right atrium. Because of the greater safety of the placement of pressure monitoring lines in the inferior vena cava via the femoral vein, this approach should be the preferred route for central venous pressure monitoring in children.     

The aging intervertebral disk.

This paper outlines the structure of the intervertebral disk and the process by which altered cellular mechanisms lead to deterioration with age. A reference list indicates current trends in research that attempt to explain the changing nature of the intervertebral disk and its role in spinal disease.