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Biomedical subjects

J R Ostergaard

Publications and source records attributed to J R Ostergaard.

At least 19 recordsLinked to original sources
PubMed2001

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↗
PubMed2000

[The objective structured clinical examination in postgraduate pediatric training. The first Danish experiences].

To evaluate the usefulness of an objective structured clinical examination (OSCE) for identifying weaknesses of the educational program and for providing feedback to trainees in paediatrics an 8-station OSCE was given. Ten residents on different levels of training participated. Stations covered a wide spectrum of clinical situations and included three video-recordings of patients. Skills in history-taking, examination, listing of differential diagnoses, planning of work-up as well as in communication and counselling were assessed. Verbal as well as written feedback was provided to all the trainees. In five trainees skills in examination were relatively weak, and subsequently it was possible to implement improvements in the educational program. Strengths and weaknesses of the educational program can be identified, but the benefits of the OSCE should be balanced with the extra workload and logistical difficulties.

Clinical Competence↗
PubMed2000

Epilepsy and pregnancy: effect of antiepileptic drugs and lifestyle on birthweight.

OBJECTIVE: To investigate the impact of epilepsy and antiepileptic drugs on length of gestation and anthropometric measures of the newborn. DESIGN: Cohort study based on questionnaires mailed to all pregnant women who attended for prenatal care at our department from August 1989 to January 1997. SETTING: Department of Obstetrics and Gynaecology at Aarhus University Hospital, Denmark. PARTICIPANTS: One hundred and ninety-three singleton pregnancies in women with epilepsy were compared with 24,094 singleton pregnancies in women without epilepsy. MAIN OUTCOME MEASURES: Preterm delivery, small for gestational age, mean gestational age, gestational age-adjusted birthweight, head circumference, and body length. RESULTS: Children of women with epilepsy who smoked had lower gestational age and were at increased risk of preterm delivery (OR 3.4; 95% CI 1.8-6.5), compared with children born by nonepileptic women who smoked. Birthweight adjusted for gestational age was reduced by 102 g (95% CI 40-164) in women with epilepsy, and the risk of delivering a child who was small for gestational age was increased (adjusted OR 1.9, 95% CI 1.3-2.7), compared with women without epilepsy. Newborn babies of women with epilepsy treated by drugs had a reduced adjusted birthweight (208 g, 95% CI 116-300), head circumference (0.4 cm, 95% CI 0.0-0.7), and body length (0.5 cm, 95% CI 0.1-1.0), compared with the newborn infants of women without epilepsy. CONCLUSIONS: Women with epilepsy who smoked were at increased risk of preterm delivery compared with healthy smokers. Children of women with drug treated epilepsy had lower birthweight, length, and head circumference than children of women without epilepsy.

Adolescent↗
PubMed1999

A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome.

Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutières syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological findings were milder in the older sister and she showed no cerebrospinal fluid pleocytosis. The present cases and recent reports of intrafamilial variability of Aicardi-Goutières syndrome may raise interesting aspects as to the limits and criteria of this syndrome.

Brain↗
PubMed1999

Smoking during pregnancy and hospitalization of the child.

OBJECTIVES: To study the association between smoking during pregnancy and hospitalization of the child before 8 months of age. DESIGN: A follow-up study of 1974 children born in 1991 and 1992. RESULTS: Overall, 158 (8%) of the children were hospitalized during the first 8 months of life. Compared with children whose mothers did not smoke during pregnancy, children with mothers who smoked 1 to 14 cigarettes per day had no increased risk of being hospitalized (relative risk: 1.1; 95% confidence interval: 0.8-1.5), whereas children whose mothers smoked 15 or more cigarettes per day had twice as high a risk of being hospitalized (relative risk: 2.0; 95% confidence interval: 1.2-3.3). When only hospitalizations before 2 months of age were analyzed, smoking during pregnancy was associated an increased risk similar to that described above. Hospitalization of the child was independent of the smoking habits of the father, and an increased risk of hospitalization associated with smoking was found not only among children with symptoms from the respiratory system but also among children with symptoms from the gastrointestinal system and the skin. The association between smoking during pregancy and hospitalization of the child persisted after adjustment for postpartum smoking habits and a number of socio-demographic and lifestyle factors. CONCLUSIONS: Smoking 15 or more cigarettes per day during pregnancy influenced the health of the children, and several points indicated that the effect of in utero exposure was independent of postpartum smoking habits. If all pregnant women smoking 15 or more cigarettes per day stopped smoking, approximately 5% of all admissions to hospitals before 8 months of age could be avoided. smoking during pregnancy, hospitalization of children.

Female↗
PubMed1998

[Benign paroxysmal torticollis. Recurrent involuntary twisting of the head in infants and young children].

Benign paroxysmal torticollis occurs in infancy and early childhood. The etiology is unknown, although a vasomotor labyrinthine pathophysiology is possible. We report four cases with onset at ages of two to six months of recurrent episodes of torticollis and discomfort persisting between three hours and seven days. In three cases the torticollis was alternating. Photography or videorecording made by the parents during the attacks were helpful for the diagnosis in three cases. MRI may in some cases be necessary to rule out a space occupying lesion in the posterior fossa.

Female↗
PubMed1998

[Juvenile neuronal ceroid lipofuscinosis].

Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age of onset, the clinical picture, neurophysiological and neuropathological abnormalities and ultrastructural studies documenting different profiles of the lipopigment. Several eponyms have been used in the designation of the diseases. Latest, an international designation abbreviated CLN has been recommended, with the addition of figures according to the subtypes. The most common type in Denmark is CLN3, also called Spielmeyer-Vogt's disease. The incidence is 1.6 per 100,000. It is characterized by slowly progressing behavioral and visual symptoms that start when the child is about four to nine years old. During the second decade of life, the disease is accompanied by seizures and severe psychomotor deterioration. Most patients die before the age of 30 years. Recently, it has been shown that this type of CLN disease is due to a mutation in a gene located on chromosome 16 (16p 12.1). A brief description of the other subtypes of CLN is given.

Adolescent↗
PubMed1997

[EEG and early diagnosis of Angelman syndrome].

The diagnosis of Angelman syndrome has seldom been made in infancy because the typical craniofacial dysmorphism and the typical outbursts of unprovoked laughter are not fully developed before the second and third year of life. Other features such as mental retardation or absence of language, though invariably present, are less obvious in the first year of life. We describe three children in whom consecutive electroencephalographic (EEG) studies show very large amplitude slow activity at 2-3/s, often rhythmic, usually occurring in prolonged runs and often more prominent posteriorly, sometimes with spikes or sharp-wave activity, and invariably associated with a diffuse rhythmic activity at 4-6/ s of 200 microvolts. The changes were present as early as six months of life. They preceded development of seizure and occurred much earlier than the craniofacial dysmorphology. It is concluded that methodical use of EEG in the elucidation of children with developmental disorder and knowledge of the characteristic EEG picture may help to identify patients with Angelman syndrome at an early age and before the clinical features become obvious.

Angelman Syndrome↗
PubMed1996

[Cerebral apoplexy in children].

Stroke in children is rare. No really good studies of the incidence are available, an estimate, however, is 2-3/100,000 children per year. In this paper we discuss the pathophysiology and the many different causes of stroke in children. In many of the cases more than one prothrombotic condition exists. If the cause is not obvious an extensive programme of examinations is recommended. This is important not only in order to give the best individual treatment, but also necessary in order to decide whether the stroke has a genetic cause. Initially, the treatment is symptomatic, attaching importance to achieving good perfusion of the cerebrum and lowering the energy consumption of the cerebrum. The rational treatment might be prompt reperfusion by thrombolytic medicine: this regime has been tried in adults, but as yet no consensus about this treatment modality exists. In some cases causal treatment is possible. If the stroke has a genetic cause genetic consultation is important and prenatal investigations might be possible. Overall, the mortality in stroke in children is about 25%. About 25% will live without any sequelae and approximately 50% of the children will disabled to a greater or lesser extent.

Cerebrovascular Disorders↗
PubMed1996

Recurrent ophthalmoplegia in childhood: diagnostic and etiologic considerations.

We present two patients with recurrent painful ophthalmoplegia starting in early childhood. Clinically, both patients fulfilled the criteria for ophthalmoplegic migraine. In one case, magnetic resonance investigations were performed following the second attack, between the third and fourth and during the fourth attack. The left third cranial nerve was significantly thickened in its course from the brainstem through the prepontine cistern to the cavernous sinus during the attacks and moderately thickened between the attacks. In the second case, magnetic resonance imaging was performed during the 14th attack, when the oculomotor nerve dysfunction was almost permanent, and the imaging demonstrated a swollen oculomotor nerve. Whether these findings are pathognomonic of ophthalmoplegic migraine awaits further reports using magnetic resonance imaging in infants showing recurrent painful ophthalmoplegia of early onset.

Child↗
PubMed1996

The central nervous system in Tay syndrome.

Trichothiodystrophy (brittle sulfur-deficient hair) is a marker for several autosomal recessive neurocutaneous syndromes with neurological manifestations and mental retardation. In Tay syndrome, the trichothiodystrophy is accompanied by congenital ichthyosis, short stature, delayed physical and mental development and pyramidal tract signs with increase in muscular tone and brisk tendon reflexes. The pathogenesis of these neurological manifestations is not fully elucidated. We present a case of Tay syndrome in which a cranial MRI revealed an almost total lack of myelin within the cerebral hemispheres and a patchy hypomyelination of the cerebellum. In accordance, a strongly prolonged visual evoked response pointed to a dysfunction of the white matter in Tay syndrome.

Ataxia↗
PubMed1995

In vivo diagnosis of Hallervorden-Spatz disease.

The authors present the MRI findings of two children with insidious walking difficulties, signs of corticospinal tract involvement, and signs and symptoms of extrapyramidal dysfunction such as rigidity and generalized dystonia, the latter with predominance of oromandibular involvement. In one child, MRI revealed prominent hypo-intensity in the globus pallidus and in the substantia nigra on T2-weighted spin echo images, consistent with iron deposition and thus with previous post-mortem findings of Hallervorden-Spatz disease. In the other case, the hypo-intensity was restricted to the globus pallidus, in which a small area of hyperintensity in its internal segment was demonstrated--the so called 'eye-of-the-tiger' sign. The authors propose that a combination of previously mentioned neurological signs with these specific MRI findings is highly suggestive of an in vivo diagnosis of the late infantile type of HSD.

Fatal Outcome↗
PubMed1994

[Pyridoxine dependent seizures].

Pyridoxine dependent seizures is a rare autosomal recessive disorder. Its manifestations are intractable epilepsy leading to death in status epilepticus. Treatment with pyridoxine prevents the seizures and normalizes the EEG. Early diagnosis is important for the intellectual outcome. In Denmark, the disease has occurred in a child of healthy Tamil immigrants, who are first cousins. The child's case story is described and points to awareness of increased occurrence of rare autosomal recessive disorders in immigrants from cultures with traditional consanguinity. We suggest giving a pyridoxine test dosis to all cases of severe epilepsy and status epilepticus in infants younger than 18 months.

Consanguinity↗
PubMed1994

Are cerebral aneurysms atherosclerotic?

BACKGROUND AND PURPOSE: The aim of our study was to investigate plasma and genetic risk factors for rupture of cerebral aneurysms. METHODS: In London, a case-control study was made of 56 consecutive patients admitted to a regional neurosurgical service for treatment of ruptured cerebral aneurysm and of 93 control subjects. A further 40 consecutive patients admitted in Arhus with ruptured cerebral aneurysm also were studied. RESULTS: The British case-control study showed that smoking was associated with an increased risk of ruptured cerebral aneurysm (odds ratio, 9.1; 95% confidence interval [CI], 3.4 to 23.8; P < .001 for a history of > 10 pack years). After age and sex adjustment, factors associated with ruptured cerebral aneurysm included a cholesterol concentration in the highest tertile (> or = 6.3 mmol/L; odds ratio, 10.2; 95% CI, 3.9 to 26.7; P < .001), an apolipoprotein B concentration in the highest tertile (> or = 0.84 g/L; odds ratio, 6.4; 95% CI, 2.5 to 16.3; P < .001), and concentrations of HDL cholesterol in the lowest tertile (< 1.1 mmol/L; odds ratio, 3.6; 95% CI, 1.4 to 8.2; P < .01). History of hypertension was of less importance (odds ratio, 4.0; 95% CI, 1.41 to 11.7; P < .01). Smoking history (P < .001) and increased concentrations of cholesterol (P < .0001) were the most important independent risk factors associated with ruptured cerebral aneurysm on multivariate analysis. The histories of hypertension and smoking, together with apolipoprotein B levels, in the Danish patients were similar to those in the British patients. In the entire patient group, the frequencies of two polymorphic variations in the type III collagen gene and polymorphisms at the apolipoprotein B, apolipoprotein C-III, and haptoglobin gene loci were not different from control subjects or the normal population; allele frequencies in British and Danish patients were similar. CONCLUSIONS: An atherosclerotic profile including increased total cholesterol concentration and a long smoking history may contribute to the rupture of cerebral aneurysms. This study provides no support for the hypothesis that inherited abnormalities of type III collagen are a common cause of cerebral aneurysms.

Adult↗