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Biomedical subjects

N Michelsen

Publications and source records attributed to N Michelsen.

At least 19 recordsLinked to original sources
PubMed1990

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

We present 2 patients with dup(21q). Patient MP01 had mild mental retardation, facial findings characteristic of Down syndrome (DS), and a terminal duplication of chromosome 21. His karyotype was 46,XY,dup(21) (q22.1-qter). Patient MP03 had mild mental retardation, minor anomalies not characteristic of DS, and a duplication of the proximal long arm of chromosome 21, karyotype 46,XX,dup(21) (q11.2-q21.2). The patients were studied with single-copy DNA sequences from 20 loci on chromosome 21 to characterize the extent of the duplicated regions at the DNA level. DNA loci from D21S55 to COL6A1 were triplicated in patient MP01 while loci from D21S13 to D21S8 were triplicated in patient MP03. Our results support the hypothesis of a critical region of chromosome 21, which in triplicate is responsible for many of the facial changes associated with DS. Other genes outside this region may also contribute to other abnormalities observed in DS.

Adult↗
PubMed1985

Neurological dysfunctioning in offspring of schizophrenics in Israel and Denmark. A replication analysis.

Neurological functioning was compared in children at risk for schizophrenia from samples recruited in Israel and Denmark. In both samples neurological signs were assessed in school-age children with one schizophrenic parent and a matched group of children with no mentally ill parents. Multidimensional Scalogram Analysis of data identified, in both samples, a radex structure of neurological functioning, radiating from motor to sensory-perceptual signs. In both samples, the gradient of neurological functioning differed between the offspring of schizophrenics and controls. For both the offspring of schizophrenics and controls, the largest number of children showed no or few signs of neurological dysfunctioning. A subgroup of the offspring of schizophrenics, but not the controls, showed multiple signs of neurological dysfunctioning that varied in pattern among individuals.

Adolescent↗
PubMed1985

Hyperactive behavior and minor physical anomalies.

Minor physical anomalies (MPAs) are congenital abnormalities of body structure which reflect fetal maldevelopment. They originate in the same embryonic layer that produces the central nervous system, and it is reasoned that MPAs are markers of nervous system anomalies. High MPA counts have been associated with hyperactive behavior in normal and clinical populations of boys, and with inhibited behavior in normal groups of girls. The present sample of children from a longitudinal study of a Danish birth cohort show no significant sex differences in mean number of MPAs, but the male hyperactivity-MPA relation and the female inhibition-MPA relation is supported in this non-clinical sample. MPAs are not recommended for use in clinical screening or diagnosis at this time, but the evidence of a congenital, biological component to hyperactive behavior may eventually have useful implications for prevention and/or intervention.

Adolescent↗
PubMed1985

Children at-risk: child abuse in Denmark.

In Denmark there have been few case reports on child abuse, but only one epidemiological study conducted in 1969. We have therefore initiated a number of countrywide studies by contacting all pediatric departments, Institutes of Forensic Medicine and the public health officers in Denmark. The present study describes the findings from the city of Copenhagen during 1970-79. Only 27 children, mostly under seven years of age, were registered. Information on pregnancy, delivery, neonatal period and the children's former development provided significant findings. All the registered families belonged to the lowest social class, half of the children had a history of previous abuse, one third of siblings had also previously been abused and one third of the wives were "battered wives". In 2/3 of the cases the father-figure was the perpetrator. The study showed an urgent need for a more coherent policy on child abuse and child welfare, general guidelines on interdisciplinary work, communication, prevention, community work and follow-up. Practical guidelines for involvement with child abuse are proposed and it is recommended to establish child abuse teams in Denmark, also in order to deal with prevention at the pre- and postnatal level. The pediatric departments should get more involved with community and social work in order to deal with child abuse and neglect at an early stage, where the abuse can be prevented.

Child↗
PubMed1984

Amblyopia screening in kindergartens with tno stereotest.

One hundred and fifty children between 3 and 6 years old were screened for amblyopia with TNO stereotest in their kindergartens. Thirty screening positive children were found of whom 3 were amblyopic with strabismus and no stereopsis. Re-testing showed that 19 children were false screening positive. Three children with refractive errors and equally impaired vision in both eyes were not detected. The test was found suitable for screening of monocular amblyopia in kindergartens, as it was easy to administrate and indicated all children with monocular amblyopia.

Amblyopia↗