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Biomedical subjects

H Sardemann

Publications and source records attributed to H Sardemann.

At least 19 recordsLinked to original sources

[Occurrence of sexual abuse of children referred to a pediatric department over a 5-year period].

The study concerns 287 children, who were referred to and examined by the paediatric department's clinical psychologist. Evidence of sexual abuse was observed in 29 of the children (23 girls and 6 boys). Sexual abuse was initially suspected in 15 children; the suspicion was confirmed in 11 cases and rejected in four cases. The remaining 18 patients had been admitted because of somatic complaints and sexual abuse was later uncovered in the psychological examination. The somatic problems originated in different organ systems: Five from the gastrointestinal system, five from the urogenitary system, three from the endocrinological system, two from the locomotor system, two enuresis/encopresis and one from the central nervous system. Sexual intercourse was completed in seven cases, four with vaginal abuse and three with anal abuse. Four children were subjected to oral abuse. Sexual abuse through touching was cited in 14 cases. In all cases the children were abused on more than one occasion. In 65% the perpetrator was a family member. The perpetrator in five cases were 15 year old boys. Sex, age, nature of abuse, and frequency is described. Sexual abuse within the family is described. It is concluded that sexual abuse was found in 10% of 287 children referred to the psychologist in a paediatric department during the period from 1988-1992. Sexual abuse as a diagnosis must be considered in situations with uncertain pathological pictures, behavioral changes and problems in learning. It is important to know the different types of sexual abuse and their expression in children. Maternal abuse was often seen.

Adolescent↗

Investigation of three XX males by cytogenetic and DNA analyses. Suggestion of Y chromosome inversion polymorphism.

We report cytogenetic and DNA studies in three XX males. Two males seemed to have extra chromosomal material on the tip of one X chromosome. All three males were shown to have Y chromosome material as indicated by hybridization of Y-specific DNA probes to genomic DNA. One male was unusual in that as he showed the 15-kb fragment detected by pDP34 that is thought to map close to the Y centromere. It is suggested that this finding might point to an inversion on the Y chromosome.

Chromosome Inversion↗

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.

Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13-Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13-Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.

Chromosome Mapping↗

Choroideremia in interstitial deletion of the X chromosome.

An earlier reported family with a deletion of the proximal long arm of the X chromosome was reinvestigated with special attention to the presence of choroideremia. Two females were identified as carriers of choroideremia while a tapeto-retinal dystrophy was ascertained in a mentally retarded boy. RFLP analysis revealed that the interstitial deletion covered the locus DXYS1 and not DXS17. Chromosome studies indicated a deletion within the Xq21 area.

Abnormalities, Multiple↗

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate, agenesis of the corpus callosum, and severe mental retardation. The possible causal relationship to his chromosome abnormality is discussed. Although the deletion occurred within the critical region, the mother showed no signs of gonadal dysgenesis. A phenotypically normal daughter was, as her mother, monosomic for this region of the X, and both showed random inactivation of the X chromosome.

Abnormalities, Multiple↗

Bone mineral content during pregnancy in epileptics on anticonvulsant drugs and in their newborns.

Bone mineral content (BMC) in the long bones was measured by photon absorptiometry in epileptic pregnant and normal pregnant women an in their newborns. The BMC (highly related to total body calcium) was completely unchanged during pregnancy in both groups. The BMC was of virtually the same order in the newborns of the epileptic mothers as in the newborns of the normal mothers. Furthermore, the development state, estimated from BMC, weight and length, was identical in the two groups of newborns. These results show that anticonvulsant osteomalacia can be held at a constant level during pregnancy, and infants born to epileptic mothers have no demonstrable demineralization of bone.

Adult↗

Do newborns of epileptics on anticonvulsants develop biochemical signs of osteomalacia?

In a controlled prospective study performed in 16 pregnant epileptics and nine normal pregnant controls, biochemical indices of calcium homeostasis (serum calcium, serum magnesium, serum phosphate, and serum alkaline phosphatases) were determined after 18 weeks pregnancy, at birth, 8 days and 6 months after birth. Furthermore, the same indices were measured in their newborns in the first 6 months of life. In both groups of mothers the serum alkaline phosphatase rose significantly during the pregnancy (P less than 0.001), followed by a significant fall after the births (epileptics: P less than 0.05, controls: P less than 0.001), but the epileptic mothers had significantly higher initial serum alkaline phosphatase levels than the controls (P less than 0.05). In both groups of newborns a dramatical fall in serum calcium was observed in the first day of life (P less than 0.001), followed by a normalization after 1 month. The serum alkaline phosphatases doubled between day 8 and day 30 in both groups (P less than 0.001). In the standing debate whether epileptics should be treated prophylactically with vitamin D, the present study indicates that pregnancy in epileptics does not call for extra vitamin D supply, and their newborns do not develop more severe hypocalcemia than their controls.

Adult↗

Neonatal hypocalcaemia after intrauterine exposure to anticonvulsant drugs.

Two cases are reported of prolonged hypocalcaemia with tetany in infants born at term, whose mothers had been treated with phenytoin and phenobarbitone in high doses. Both infants presented with jitteriness and tetany in the first and second weeks of life, and in both the hypocalcaemia was resistant to therapy over a longer period. An effect on the fetal vitamin D metabolism by phenytoin and phenobarbitone, resulting in defective bone mineralization and neonatal hypocalcaemia is suggested.

Adult↗

Kinetics and dose calculations of amikacin in the newborn.

The pharmacokinetics of a new aminoglycoside, amikacin, was evaluated in 37 infants between 1 and 34 days old. Fifteen were below 2,500 gm in weight. Initial studies, including intravenous infusion in some of the infants, indicated that the disposition of amikacin was best described by a 2 compartment model. The absorption was evaluated in 8 of the infants after intramuscular injection of 7.5 mg amikacin per kilogram of body weight. The absorption rate, estimated by the tmax, was significantly faster than reported in adults. The total body clearance and apparent volume of distribution were studied in 22 infants after the same dose of amikacin intramuscularly. The body clearance expressed in relation to body surface or body weight was significantly less than in adults and correlated with the postnatal age. No correlation could be demonstrated between clearance and gestational age or birth weight. The volume of distribution per kilogram was significantly greater than in adults. On the basis of the derived kinetic parameters, a dose schedule is presented. In 5 children there was a reasonable agreement between the measured and predicted serum levels.

Absorption↗

Follow-up of children of drug-addicted mothers.

During a period of 2 years (1971-72) 19 newborn infants were admitted to hospital because their mothers were drug addicts. To evaluate the prognosis in these children, 17 were followed up by a social adviser, a psychologist, and a paediatrician. During the neonatal period 16 of the infants had withdrawal symptoms, for which 11 required medical treatment. One infant died of congenital malformations. Of the surviving 18 infants 14 were discharged to their mothers and 4 went to a children's home. During follow-up, which varied from up to 2 months to up to 2 years 8 months of age, 10 of the children had to be placed in a children's home for a period. No physical abnormalities were found in the children. Motor and perceptual development were normal in 12 but in 3 speech development was delayed. Five mothers ceased to take drugs after delivery and 2 had done so during early pregnancy. The pre- and perinatal complications and the undesirable environment in which the children grow up show the need for a comprehensive treatment programme.

Child Care↗