Rett syndrome: investigation of nine patients, including PET scan.

BACKGROUND: We describe nine females with Rett Syndrome (RS), aged 14 to 26 years. All had had developmental delay before the end of their first year and had subsequently regressed to profound dementia with apraxia, ataxia, irregular respirations and often also seizures. METHODS: The Revised Gesell developmental assessment and Alpern-Boll Developmental Profile were used in modified form. Volumetric measurements of basal ganglia using MRI were compared with the findings in nine age-matched volunteer females. Positron emission scans with [18F]-6-fluorodopa and [11C]-raclopride were performed under light anesthesia with intravenous Propofol, and the findings were compared with those in healthy control girls. Bidirectional sequencing of the coding regions of the MECP2 gene was investigated in blood samples for mutational analyses. RESULTS: The RS females functioned at a mental age level ranging from about 4 to 15 months. The scores correlated with height, weight and head circumference. Magnetic resonance scans of basal ganglia showed a significant reduction in the size of the caudate heads and thalami in the Rett cases. Positron emission scans demonstrated that the mean uptake of fluorodopa in RS was reduced by 13.1% in caudate and by 12.5% in putamen as compared to the controls, while dopamine D2 receptor binding was increased significantly by 9.7% in caudate and 9.6% in putamen. Mutations in the coding regions of the MECP2 gene were present in all nine patients. No significant correlation between type and location of mutation and volumetric changes or isotope uptake was demonstrable. CONCLUSIONS: Our findings suggest a mild presynaptic deficit of nigrostriatal activity in Rett syndrome.

Comparison of two spatially resolved NIRS oxygenation indices.

UNLABELLED: We compared the percentage haemoglobin oxygenation indices from two near infrared spectrophotometers (NIRS) to determine whether the devices reported similar changes in response to induced changes in oxygenation. METHODS: 24 healthy juvenile swine undergoing cardiac bypass surgery had INVOS 5100 and NIRO-300 sensors applied to the brow. Induced events included circulatory arrest, altered blood flow rate, core cooling, and re-warming. RESULTS: The average data collection was 4 hours 36 minutes and had an r = 0.82 mean correlation between the INVOS and NIRO. The total resting baseline collection from all trials (8,590 pairs) had a correlation of r = 0.62. The average relationship between the INVOS and NIRO was non-linear: an INVOS regional oxygen saturation index (rSO2) of 0% was equivalent to a NIRO tissue oxygenation index (TOI) of 36.2%; values were equal at 56.8%; and an (rSO2) of 100% was equivalent to a TOI 85.9%. There was good or excellent agreement (r > 0.5) between the (rSO2) and TOI patterns of change during induced events in 96% of trials. The INVOS and NIRO were most closely correlated when an attenuation filter was used to obtain identical emitter/detector separations. CONCLUSIONS: There was close agreement between the INVOS 5100 and NIRO-300 in response to major physiological change, although absolute values of (rSO2) and TOI were not identical. There was less agreement during baseline measurements or minimal physiologic change.

Increased inspiratory pressure for reduction of atelectasis in children anesthetized for CT scan.

BACKGROUND: Atelectasis is more frequent and more severe in children anesthetized for CT scan than it is in children sedated for CT scan. OBJECTIVE: To determine the effect of increased inspiratory pressure on atelectasis during chest CT in anesthetized children. MATERIALS AND METHODS: Atelectasis on chest CT was assessed by two observers in three groups of patients. Group A comprised 13 children (26 lungs) anesthetized at inspiratory pressures up to and including 25 cm H2O. Group B included 11 children anesthetized at inspiratory pressures > or =30 cm H2O. Group C included 8 children under deep sedation. RESULTS: Atelectasis was significantly more severe in group A than in groups B and C. There was no significant difference between groups B and C. CONCLUSION: An inspiratory pressure of 30 cm H2O is recommended for children anesthetized for CT scan of the chest.