PubMed Health⌕ Search

Biomedical subjects

B Hamborg-Petersen

Publications and source records attributed to B Hamborg-Petersen.

10 recordsLinked to original sources

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring.

UNLABELLED: We report on a 32-y-old woman with Prader-Willi syndrome (PWS) and her daughter with Angelman syndrome (AS). PWS in the mother was confirmed as due to a deletion of 15q11-q13, and molecular analysis in the neonate indicated an inherited maternal deletion of the same region. Features of AS in early infancy, such as jerky movements, feeding problems and poor sleep, were observed. At 5 mo of age, a triphasic high voltage EEG pattern was reported. CONCLUSIONS: This case confirms the non-Mendelian inheritance of PWS and AS and, in addition to previous reports, provides evidence of fertility in PWS women. We recommend the provision of information regarding fertility in females with PWS to parents, guardians and individuals with PWS, and frequent EEG monitoring for early AS diagnosis. Given the different genetic aetiologies for PWS and AS, cytogenetic and molecular genetic analysis is strongly indicated for counselling and risk estimation.

Adult↗

[Hypoglycemia in the neonatal period. The need for blood sugar control].

In order to evaluate the demand of blood glucose measurements (BG) in the neonatal period, a retrospective study of BG in 177 newborn babies was undertaken. Babies with birth weight less than 2,500 grams, gestational age (GA) less than 37 weeks, and/or a low birth weight in relation til gestational age were included in the study. Accordingly, the babies were grouped as appropriate for GA (AGA), small for gestational age (SGA), or large for GA (LGA). Neonatal hypoglycemia (NH), BG less than or equal to 1.4 mmol/l, was found in 33 babies. In 31 babies, NH occurred before 12 hours of age while six babies had recurrent NH. Correlation was seen between total number of clinical symptoms and NH, which was, as anticipated, commonest among preterm SGA-babies. The risk of subsequent NH in early fed low birth weight newborn seems to be very low, if NH has not appeared within the first 12 hours of life. After this time, serial blood glucose measurements only seem justified, if concomitant perinatal disease is present.

Blood Glucose↗

Toxic effect of scopolamine eye drops in children.

Five children, admitted with acute psychotic reactions after use of Scopolamine eye drops 0.2%, are presented. The predominant symptoms were visual hallucinations, strange behaviour, and restlessness. In one case peripheral symptoms were observed. Recovery was complete in 24 h. Prescription of Scopolamine eye drops should be followed by information of possible adverse effects. Cyclopentolate might be used instead.

Acute Disease↗