Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency

The dose of glucocorticoid was evaluated in the treatment of 19 patients with salt-losing congenital adrenal hyperplasia due to complete or nearly complete 21-hydroxylase deficiency. In most cases, follow-up was from infancy to puberty. The dose of steroid was expressed as oral cortisol (mg/m² body surface area 124 hours); the equivalent doses of the various glucocorticoid preparations was as follows: 100 mg oral cortisol = 120 mg oral cortisone acetate = 25 mg oral prednisone = 50 mg intramuscular cortisol = 60 mg intramuscular cortisone acetate. The dose of glucocorticoid producing good laboratory and clinical control varied significantly with age. The dose fell from 26 mg/m²/24 hours in early infancy to 19 mg/m²/24 hours between 6 and 8 years of age, and then rose to 23–24 mglm²/hour in adolescence. In addition to these age-related changes, there were large individual variations at each age. Indeed, the values from 4 of the 19 patients were not included in the calculation of the mean because they were more than 3 SD either above or below the mean. For the rest of the patients, the coefficient of variation ranged from 14.5% to 37.2%. It is concluded that glucocorticoid therapy must be adjusted carefully to the age and needs of each patient.     

Prevalence of behaviour disorders in low birthweight infants

OBJECTIVE--To determine the prevalence of behaviour disorders in low birthweight infants. DESIGN--Children of birth weight < or = 2000 g born to mothers resident in Merseyside in 1980-1 assessed using the Rutter parent and teacher behaviour questionnaires and the Conner modification of the Rutter teacher questionnaire. Children attending normal schools were assessed with controls matched for age, sex, and class in school. Children attending special schools were assessed unmatched. SUBJECTS--233 matched case-control pairs attending normal primary schools and 46 unmatched children attending special schools. SETTING--Primary and special schools. MAIN OUTCOME MEASURES--Emotional, conduct, and undifferentiated behaviour disorders and hyperactivity. RESULTS--On the parental questionnaire screen, 36% of the cases and 22% of the controls had a behaviour disorder and on the teacher questionnaire the proportions were 27% and 12% respectively. Hyperactivity was significantly more common among male cases than their controls (21% v 5.0%) but differed little among female cases and controls (9% v 7%). CONCLUSIONS--Improving neonatal survival of low birthweight infants is accompanied by a higher prevalence of behaviour disorders. The long term implications for psychiatric morbidity and other adult disease must be monitored.     

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I

We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado-Joseph disease (MJD) (n = 16). In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. The smooth pursuit gain was decreased. In SCA2, saccade velocity was markedly decreased. The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset. In addition, a correlation between smooth pursuit gain and the number of trinucleotide repeats was found. In SCA3, gaze-evoked nystagmus was often present as was saccade hypometria and smooth pursuit gain was markedly decreased. Three major criteria, saccade amplitude, saccade velocity, and presence of gaze-evoked nystagmus, permitted the correct assignment of 90% of the SCA1, 90% of the SCA2, and 93% of the patients with SCA3 to their genetically confirmed patient group and, therefore, may help orient diagnose of SCA1, SCA2, and SCA3 at early clinical stages of the diseases.     

Saccades to spatially extended targets: the role of eccentricity

Size and eccentricity of visual targets are known to modulate saccade parameters. Here we asked for a possible interaction between these target properties. We investigated latency and amplitude of saccades to targets of varying diameter presented at various eccentricities in the visual field. Effects of target size on saccadic eye movements highly depended on eccentricity of saccade targets. For large saccade targets, latencies increased and mean amplitudes decreased mainly at parafoveal eccentricities. By contrast, scatter of saccade amplitudes increased nearly linearly with target size and eccentricity. These effects are consistent with the known functional anatomy of the superior colliculus. Size- and eccentricity-related changes in saccade parameters may depend on distinct subpopulations of collicular neurons.     

Case-based distance measurements for the selection of controls in case-matched studies: application in coronary interventions

In case-based studies, controls are retrospectively assigned to patients in order to permit a statistical evaluation of the study results through a comparison of the main outcome measures for the patient and retrieved control groups. Inappropriate selection of the controls by using false retrieval parameters or a false algorithm might lead to an incorrect data analysis and a false interpretation of the results. The main hypothesis of the presented study was that, if the matching baseline parameters were at least nearly perfectly selected, then the outcomes of the matched pairs should be similar, or no significant differences in study outcome should be observed between the patients and the matched controls. In the present study, the case-based domain was created from 1566 patients who had undergone intracoronary stent implantation. Uni- and multivariate logistic regression analysis determined nine significant predictors (matching variables) for the occurrence of major adverse cardiac events. An additional 425 consecutive patients undergoing intracoronary stent implantation were then matched with all the potential controls from the database by calculating the individual distance between the patient and the matched control on the basis of the elaborated retrieval algorithm. To test the matching hypothesis, different distance measurements, and an altered outcome and retrieval process were examined. With "flexible" distance measurements, the mean distance between the patients and the first matched controls was 1.31. The major adverse cardiac events were compared in the patient and matched control groups. The best sensitivity and specificity values of the matching system could be achieved in matched pairs with the distance < or =3.00 (95.1% of all patients). On the further stepwise exclusion of the matched pairs exhibiting a distance greater than 2 and 1, then the number of "matchable" controls and the specificity of our matching concept decreased considerably. When the short- or mid-term outcome was compared by using the long-term follow-up matching parameters, no correlation could be found between the treated subjects and controls, indicating that for the other study, main measures of other appropriate parameters must be selected, and demonstrating the importance of the outcome-oriented selection of the retrieval parameters. Furthermore, the outcome measures of the patients and randomly (non-systematically) selected controls did not correlate, revealing the impossibility of drawing correct study conclusions from a non-matched, randomly assigned pairs. In conclusion, the sensitivity and specificity of the matching program, and the study conclusions depend on the appropriately predefined matching parameters and retrieval algorithm.     

Acute pseudo-obstruction of the small intestine following high-dose chemotherapy and stem cell support

BACKGROUND: Acute intestinal pseudo-obstruction is a potentially life-threatening disease which is characterized by massive dilation of the colon or small intestine without mechanical obstruction and may develop after surgery or severe illness. PATIENTS AND METHODS: We report 2 cases in which acute small intestinal pseudo-obstruction occurred after high-dose chemotherapy and autologous stem cell support. In 1 patient explorative abdominal laparoscopy was performed to rule out mechanical ileus. However, after having initiated treatment with acetylcholinesterase inhibitors a prompt small intestinal decompression was observed in both patients. CONCLUSIONS: Acetylcholinesterase inhibitors should be considered as an early conservative intervention in the treatment of acute intestinal pseudo-obstruction to avoid surgery of patients undergoing high-dose chemotherapy with autologous stem cell support.     

A direct prefrontotectal tract against distractibility in the human brain

Distractibility, which can be defined as an attention deficit in which orientation toward irrelevant targets can be hardly inhibited, is commonly related to a dysfunction of the dorsolateral prefrontal cortex. Here, we show that increased distractibility, observed in a patient with an exceptionally small lesion located in the upper brainstem, may result from the interruption of a direct tract that connects the prefrontal cortex to the superior colliculus, a structure involved in both eye movement control and attentional shifts.