Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population

Many galactosaemics appear to have neuropsychological and/or linguistic problems in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosaemia, we have re-examined Norwegian galactosaemics. Of 16 known patients, 8 patients participated in the study. They had been diagnosed between 2 and 11 weeks of age, and were between 9 months and 19 years old at the time of this study. All had very low or 0 activity of galactose-1-phosphate uridyl transferase. As part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation. The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. The majority had delayed language development and three patients were classified as having verbal dyspraxia. ABR and EEG showed mild pathology in the oldest patient only. Galactosaemia appears to be associated with significant risks of developmental and language delays in this unscreened population.     

Pancreas divisum: thin-section CT

Twelve patients with known pancreas divisum underwent thin-section computed tomography (CT) to determine the capability of CT to depict this pancreatic anomaly. Focal pancreatic enlargement was present in five patients. Two distinct pancreatic moieties separated by a fat cleft were noted in three patients; a fourth patient had focal atrophy in the distribution of the dorsal pancreas. The two pancreatic moieties were identified at the same craniocaudal level in all four of these patients. The dorsal duct was depicted in all 12 patients, while the short ventral duct was seen in only five of the 12 patients. Failure of the ventral and dorsal pancreatic ducts to fuse was identified in all five patients in whom both ducts were seen. CT may not enable specific diagnosis of pancreas divisum in the majority of patients. If, however, distinct pancreatic moieties or unfused ductal systems are evident, the diagnosis may be confidently suggested.     

Embryo reduction: our experience

Background

The transvaginal ultrasound-guided embryo reduction technique is a feasible option for the prevention and management of the medical and obstetric risks associated with high-order multiple pregnancy resulting from assisted reproductive treatment.

Method

Multifoetal pregnancy reduction was carried out in 51 in vitro fertilisation pregnancies (IVF) and one intrauterine quintuplet pregnancy resulting from intrauterine insemination (IUI) using transvaginal approach under ultrasonographic guidance.

Results

Of the 52 embryo reduction procedures, 48 (92%) were performed between the seventh and eighth weeks of gestation, three between eighth and ninth weeks and one in the 10th week of gestation. Forty-nine patients (94%) underwent reduction from triplets to twins, two from quadruplet to twins, and one from quintuplet to twin pregnancy. The average time required for the embryo reduction was 5.0±0.5 minutes per sac in early gestation (6th-9th weeks), increasing to 8.5 minutes per sac for later procedures, due to technical difficulties brought about by increased embryo size and mobility. All embryo reduction procedures were successfully performed in a single session.

Conclusion

Transvaginal ultrasound guided embryo reduction technique performed between seventh and eighth-weeks of gestation is an effective and safe procedure for embryo reduction.     

NEONATAL SEPSIS

Neonatal sepsis continues to be a major cause of morbidity and mortality in India. To aid the diagnosis several direct and indirect methods are available. Sepsis screen has resulted in decrease in indiscriminate use of antibiotics. C-reactive protein can be easily estimated and is a useful indicator for favourable outcome or complication. The bacterial flora causing sepsis has changed over the years. Antimicrobial chemotherapy should be based on the prevalent organisms in the neonatal ICU. Outcome can be improved by judicious use of newer antibiotics and exchange transfusion when indicated.KEYWORDS: Antibiotics, Meningitis, Neonatal sepsis