Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

We present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In the literature, early atrophy of the superior vermis as well as progressive atrophy of the cerebellar hemispheres and cervical cord was described. We found linear hypointensity on T2 and T2 fluid-attenuated inversion recovery-weighted images in the pons in all of our 5 patients.

Influence of maternal physical activity on infant's body composition.

BACKGROUND: Physical activity (PA) during pregnancy might contribute to reduce neonatal adiposity, a predictor of metabolic disturbances. OBJECTIVE: The objective of the study was to evaluate the association between maternal PA intensity and neonatal body composition. METHODS: Maternal PA measured by accelerometry and nutrition were documented during pregnancy, as well as neonatal body composition by dual-energy X-ray absorptiometry following delivery. Associations between PA at 17 and 36 weeks (time spent in moderate PA (MPA), vigorous PA (VPA) status and their interaction) and neonatal body composition were addressed by multivariate regression analyses. RESULTS: From 104 women, 50 (48%) and 16 (18%) performed VPA at 17 and 36 weeks of pregnancy. Performing VPA at either time was associated with a decreased birthweight (BW), while only VPA at 17 weeks decreased neonatal adiposity (fat percentage: -2.3 ± 0.8%, p = 0.003). MPA at 36 weeks was associated with an increased lean mass (2.0 ± 0.8 g per min day-1 , p = 0.012). Significant interactions were found for BW and bone mineral content (BMC). MPA at 17 weeks tended to increase BW, but not BMC, in the no VPA strata. By contrast, high levels of MPA (≥112 min d-1 ) combined with VPA at 17 weeks reduced neonatal BMC and BW compared with no VPA (BMC: -5.4 ± 2.0 g, p = 0.008, BW: -302.8 ± 83.7 g, p = 0.0003). Differences were not significant with low MPA levels. CONCLUSIONS: Exercise intensity modulates neonatal body composition. The long-term significance of a reduced BW, adiposity and BMC with VPA requires further study.

Estimation of lungs' hypoplasia on postoperative chest x-rays in congenital diaphragmatic hernia.

Since we stopped inserting ipsilateral underwater chest drains after surgical reduction of the herniated contents in congenital diaphragmatic hernia, both lungs are allowed to expand at their own pace, making it possible to estimate their degree of hypoplasia on postoperative chest x-rays. Thirty-nine consecutive series of postoperative chest x-rays were examined by an independent reviewer in a blind manner and classified into three groups: none to mild pulmonary hypoplasia (group I, 10 cases); moderate to severe (group II, 20 cases); and very severe hypoplasia (group III, 9 cases). Correlations were done among groups and available anatomical and clinical data. Eight patients out of 9 survived in spite of very severe hypoplasia on postoperative chest x-rays, suggesting that indexes of severity may be misleading when they mistake pulmonary hypoplasia for the cause of death.

Case report: unilateral haematocolpos in uterine duplication associated with renal agenesis.

A case of unilateral haematocolpos correctly diagnosed by ultrasound is described in a 13 year old girl known to have a solitary kidney. The association of renal agenesis with Müllerian abnormalities is well recognised and in this case the ultrasound findings ensured that the correct surgical management was undertaken.

An assessment of sonography in the diagnosis and management of neonatal renal candidiasis.

The renal sonographic findings in six cases of neonatal candidiasis and 13 cases previously reported in the literature are reviewed. Focal and diffuse parenchymal changes and obstruction due to mycetoma formation were frequent features. In the current series the sonographic changes were found to bear an inconstant relationship to the probable time of onset of the infection. In addition, apparent sonographic deterioration occurred in neonates well after adequate antifungal treatment was initiated. In view of the potential toxicity of systemic antifungal therapy, sonographic renal parenchymal changes are not considered an adequate indication for either its initiation or its continuation.