[Deaths at the neonatal department. Withholding or interruption of life-support treatment]. / Dødsfald på en neonatalafdeling. Undladelse eller ophør af livsbevarende behandling.

The circumstances of 88 deaths in the Neonatal Department, Rigshospitalet Copenhagen, were reviewed with special emphasis on the clinical background for, and parental attitude to withholding life-sustaining treatment. We recorded whether these considerations appeared in the patient's medical record, the type of treatment withheld and the use of opioids. No infant died under ongoing maximal treatment. Fourteen infants were judged to have died with "almost certainty" (gr A), 48 infants were judged to have died with great probability (gr B) and 26 infants were judged to have had a considerable chance of survival (gr C). Opioids were used more often in the terminal course of treatment in group C as opposed to group B. Parental attitudes and clinical background were not fully described in the medical record for many patients. The decision to withhold life sustaining treatment in the severely ill neonate was made to avoid prolonged futile suffering, or survival with very severe handicaps.

[Quality of life of young adults whose birth weight was under 1.500 g]. / Livskvalitet hos unge voksne født med fødselsvaegt under 1.500 g.

Quality of Life (QoL) has been assessed in eighty-five young adults, born in 1971-1974 with birthweight < 1500 g (VLBW) and admitted to the neonatal intensive care unit of the State University Hospital in Copenhagen, Denmark. Their QoL has been compared to that of 85 subjects with birth weight > 2500 g (NBW) born in the same period at The State University Hospital. The subjects were interviewed by telephone on the basis of well defined theories on QoL by Anton Aggernaes. Quality of Life was assessed both in objective terms and as judged by the interviewed person. Subjects born with VLBW who were free of handicaps had QoL-scores (both objective and subjective) fully comparable to the NBW group. VLBW subjects reporting various physical and mental handicaps had subjective QoL-scores comparable to scores in the NBW group but the objective QoL-scores were significantly lower.

[Intersex: which gender should be chosen?]. / Intersex: hvilket køn skal vaelges?

A newborn infant with ambiguous genitalia is a medical emergency, and the choice of gender must take into account both the chromosomal and the gonadal sex, the hormonal milieu during fetal life, surgical aspects, the anatomy of the internal genitalia, as well as the prospects for future fertility, normal psychosexual development, and sexual function as an adult. Counselling requires paediatric endocrine, surgical, and psychological expertise, but the lack of knowledge of the long-term consequences of an intersex condition hampers rational treatment. It has long been customary to assign the child a female gender, whereas recent research points to a choice of a gender compatible with the chromosomal sex, if at all possible. This article reviews our knowledge in this field.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

The fragile X syndrome is due to the new class of dynamic mutations. It is associated with an expansion of a trinucleotide repeat (CGG) in exon 1 of the fragile X mental retardation gene 1 gene (FMR1). Here we present a fragile X family with an unique female patient who was rendered hemizygous for the FRAXA locus due to a large deletion of one X chromosome. In addition, the other X had a microdeletion in FMR1. PCR and sequence analysis revealed that the microdeletion included all CGG repeats plus 97 bp of flanking sequences, leaving transcription start site and translation start site intact. Despite this total lack of CGG repeats in the FMR1 gene, Western blot analysis showed expression of FMRP, and the patient's phenotype was essentially normal. X-inactivation studies of the androgen-receptor (AR) locus and haplotype determination of microsatellite markers gave evidence that the deletion probably originated from regression of a fully mutated FMR1 gene. Although the minimal number of CGG repeats hitherto reported in FRAXA is six, and at least four other genes associated with CGG repeats are known, suggesting an as yet unknown function of these repeats, our study clearly demonstrates that the absence of CGG repeats does not abolish expression of the FMR1 gene in lymphoblastoid cells.