Mosaic trisomy 22 is known to be compatible with life. However, there are fewer than 20 reports in the literature of live born children and even fewer reports describing their neurodevelopmental outcome. We report on two girls with mosaic trisomy 22 and normal development at ages 7 and 5 years. Both girls had characteristic dysmorphic features including flat nasal bridge, preauricular pits, epicanthic folds, and 5th finger clinodactyly. They also had left-sided hemihyperplasia and short stature. In addition, one of them also had ventricular non-compaction and probable asplenia, two unique features not previously reported. In review of the literature, prenatal and postnatal growth failures were the most common complications of mosaic trisomy 22. Skeletal abnormalities including body asymmetry and 5th finger clinodactyly were also common. While the majority of patients with mosaic trisomy 22 had abnormal cognitive development, normal development has also been documented. It is conceivable that children with trisomy 22 mosaicism, with minimal physical findings and normal development are under diagnosed. Our patients further highlight this potential for normal cognitive outcome and draw attention to possible skewing of unfavorable prognosis for the final developmental outcome in this population. Appropriate information regarding developmental outcome is critical for genetic counseling, especially in prenatal situations.
General anaesthesia for obstetric surgery has distinct characteristics that may contribute towards a higher risk of accidental awareness during general anaesthesia. The primary aim of this study was to investigate the incidence, experience and psychological implications of unintended conscious awareness during general anaesthesia in obstetric patients. From May 2017 to August 2018, 3115 consenting patients receiving general anaesthesia for obstetric surgery in 72 hospitals in England were recruited to the study. Patients received three repetitions of standardised questioning over 30 days, with responses indicating memories during general anaesthesia that were verified using interviews and record interrogation. A total of 12 patients had certain/ probable or possible awareness, an incidence of 1 in 256 (95%CI 149-500) for all obstetric surgery. The incidence was 1 in 212 (95%CI 122-417) for caesarean section surgery. Distressing experiences were reported by seven (58.3%) patients, paralysis by five (41.7%) and paralysis with pain by two (16.7%). Accidental awareness occurred during induction and emergence in nine (75%) of the patients who reported awareness. Factors associated with accidental awareness during general anaesthesia were: high BMI (25-30 kg.m -2 ); low BMI (<18.5 kg.m -2 ); out-of-hours surgery; and use of ketamine or thiopental for induction. Standardised psychological impact scores at 30 days were significantly higher in awareness patients (median (IQR [range]) 15 (2.7-52.0 [2-56]) than in patients without awareness 3 (1-9 [0-64]), p = 0.010. Four patients had a provisional diagnosis of post-traumatic stress disorder. We conclude that direct postoperative questioning reveals high rates of accidental awareness during general anaesthesia for obstetric surgery, which has implications for anaesthetic practice, consent and follow-up.
We have studied, haemoglobin A(2)' (A(2) prime), a delta chain variant haemoglobin occurring in a small percentage of individuals of African ancestry. In heterozygotes, the percentage of haemoglobin A(2)' was found to be slightly lower then the percentage of haemoglobin A(2), suggesting that the variant delta chain is synthesized at a reduced rate. When quantifying haemoglobin A(2) for the diagnosis of beta thalassaemia heterozygosity, it is essential to add together the A(2) and A(2)' to give 'total haemoglobin A(2)'. However, it not necessary to use a different reference range for total haemoglobin A(2) in A(2)' heterozygotes. When using microcolumn chromatography, A(2)' was found to be measured with A(2). On the high-performance liquid chromatography instrument studied, haemoglobin A(2)' fell in the haemoglobin S window but its retention time differed from that of haemoglobin S.
Naloxone can be effective in reversing the respiratory depressive effect of analgesic premedication and in turn facilitates expeditious extubation in some preterm infants intubated for INSURE procedure.
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