Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples

The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the patient's mother who became slightly symptomatic after relatively high protein meals and during pregnancy, and had spontaneously modified her diet to one with protein restriction. The patient is growing normally on a dietary regimen similar to that spontaneously adopted by her mother. Urea cycle enzyme activity in the duodenal biopsy material from the controls was similar to that found in the normal human liver and appears to have distinct advantages as a means of assaying for urea cycle defects in patients with hyperammonaemia and their relatives.     

Effects of prefeeding oral stimulation on feeding performance of preterm infants

Objective  

To investigate the effects of a prefeeding oral stimulation program on the feeding performance of preterm infants.     

Photo(chemo)therapy in private practice in Belgium, France and The Netherlands

Photo(chemo)therapy is used widely, and ultraviolet (UV) sources, protocols and indications are numerous. A survey was carried out to examine how photo(chemo)therapy is employed in private practice and to determine whether safety guidelines are respected. A questionnaire survey sent to Belgian, French and Dutch dermatologists generated 593 useful responses. UV sources, doses of UV and 8-methoxypsoralen (8-MOP), as well as the frequency of the treatment, were all different in the three countries. UV starting doses were rarely chosen according to the minimal phototoxic dose (MPD) or to the minimal erythema dose (MED). Total cumulative UV doses were not always determined. Maintenance PUVA therapy for psoriasis was still performed by 15 to 40% of dermatologists in the respective countries. Another striking fact was that genital protection is not universal. On the other hand, the irradiance of tubes is checked regularly, and contraindications are respected. Despite the availability of guidelines, clinicians seem to be inconstant in their assessment of the carcinogenic risk of UV radiation.     

Myometrial invasion by endometrial carcinoma: sonographic assessment

The depth of myometrial invasion by endometrial carcinoma was evaluated using real-time sonography (US) in 20 patients with histologically proved adenocarcinoma of the endometrium. In 14 of 20 (70%) cases, US-based estimation of the depth of myometrial invasion was within 10% of the actual measurement in the gross specimen. The US-based estimation of tumor invasion was low in seven patients, high in four patients, and agreed with pathologic findings (+/- 5%) in nine patients. In four patients with polypoid intraluminal extension of tumor, a deeply invasive tumor was suspected on US but was not found on pathologic examination. In 12 superficially invasive tumors, the continuity of the demarcating subendometrial halo was intact in nine and incomplete in three. In six patients with deeply invasive tumors, this zone was partially disrupted in four, totally disrupted in one, and intact in one. Errors of estimation of the depth of myometrial invasion on US most frequently occurred when a tumor had a significant intraluminal polypoid extension. Demonstration of a subendometrial halo usually indicated superficial invasion, whereas the absence of a halo was frequently associated with deep invasion.     

Breast and axillary tissue MR imaging: correlation of signal intensities and relaxation times with pathologic findings

We tested a variety of inversion-recovery (IR) and spin-echo (SE) sequences by imaging the breast masses of 22 patients before surgery and 23 tissue specimens with magnetic resonance (MR) imaging at 0.6 T to determine the most effective pulse sequences to evaluate breast disease. An SE pulse sequence using a long repetition time (TR) of 1,600 msec and a long echo time (TE) of 90 msec was found to be the most sensitive in depicting carcinoma in the excised tissue specimens, with all of the carcinomas (n = 15) demonstrating irregular areas of higher signal intensity (SI) than that of the adjacent fat. However, only five of 11 breast carcinomas present in the preoperative patients produced a higher SI than that produced by fat on the same T2-weighted sequence. Five of the remaining six carcinomas in the preoperative patients appeared as localized distortions of fibroductular architecture on both T2-weighted SE and IR sequences. In axillary tissue specimens, both metastatic carcinoma and hyperplastic lymph nodes produced a high SI on T2-weighted SE sequences. However, metastatic carcinoma had a significantly longer T2 relaxation time than did hyperplastic lymph nodes.     

Current concepts of children's perceptions of control

Beliefs about control have been identified as an important aspect of the occupational therapy evaluation process because of their potential influence over the course of action chosen. This paper reviews the current status of research and theory in this area as it relates to children. Issues addressed include the drawbacks of the downward extension of adult theoretical models and tests to children, the multidimensionality of perceived control, and the relation between cognitive development and changes in beliefs. Recent revisions in theoretical models and new measures that provide more differentiated information on children's beliefs about causality and personal efficacy are reviewed. The implications for the selection of instruments and interpretation of results for the assessment of children's perceived control in clinical practice are discussed.     

Cutaneous events during treatment of chronic inflammatory joint disorders with anti‐tumour necrosis factor alpha: a cross‐sectional study

Background Anti‐tumour necrosis factors (anti‐TNF) are more and more used, but the rate of skin adverse events is not known. Objective The aim was to assess the number of skin infections and other dermatoses in patients treated with anti‐TNFα. Patients and methods One hundred eighty‐seven patients suffering from rheumatoid arthritis or ankylosing spondylitis underwent a dermatological exam. Patients with anti‐TNF were compared with those without this treatment in a prospective transversal study. Results Among them, 59 patients were treated with anti‐TNFα and steroids were prescribed in 100 cases. There was no difference in the prevalence of skin infections or eczema or tumours. Skin drug reactions were observed in six patients. Infections by dermatophytes appear very frequent, approaching 70% in both groups. Conclusions This study shows that skin infections (or other skin diseases) are not more frequent in these patients. No differences were observed in infections (bacterial fungal, parasital or viral), tumours, psoriasis or the manifestations of atopic dermatitis. Nonetheless, a long‐term survey might be interesting, especially about skin tumours.     

The impact of health needs assessment and prioritisation on District Health Board planning in New Zealand

Objectives District Health Boards (DHBs) in New Zealand are mandated to assess and prioritise the health needs of their resident populations. This paper evaluates the impact of those health needs assessments (HNAs) and prioritisation practices on health service planning and purchasing in the first 3 years of the DHBs (2001–2003). Methods DHB HNAs, 5‐yearly strategic plans, and annual plans were evaluated using document analysis to determine the impact of needs assessments on prioritisation and planning by boards. Key informant interviews with DHB senior managers were used to identify differences between boards. Results HNAs had relatively little influence on the direction of planning and purchasing. HNAs conducted in DHBs that focussed on planning at the service level and in relation to population subgroups using a ‘mixed‐scanning’ approach and ‘service planning groups’ had a greater impact on planning and purchasing than more comprehensive approaches. DHBs found prioritisation difficult due to the level of control exercised by central government over their actions. Conclusions HNAs in New Zealand need to be less ambitious, more focussed and more closely institutionally linked to prioritisation, service planning and purchasing processes if they are to have an impact on the allocation of resources. Copyright © 2009 John Wiley & Sons, Ltd.