Biomedical subjects

N H Birkebaek

Publications and source records attributed to N H Birkebaek.

At least 19 recordsLinked to original sources

PubMed2003

Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis. Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.

Adolescent↗

PubMed2002

Fertility and pregnancy outcome in Danish women with Turner syndrome.

The aim of the investigation was to study fertility in Danish women diagnosed with Turner syndrome (TS), and to describe their offspring. In total, 410 women in the fertile age were registered in the Danish Cytogenetic Central Register with TS between January 1973 and December 1993. Their karyotype were as follows: 49% with 45,X, 23% with mosaicism and a structural abnormality of the second X, 19% with 45,X/46,XX mosaicism, and 9% with 46,XX and a structural abnormality of the second X. Thirty-three women, one with 45,X, 27 with mosaicism and 5 with 46,XX and a structural abnormality of the second X, gave birth to 64 children. Two women had become pregnant after in vitro fertilization, including a woman with 45,X after an egg donation. Thus, 31 women(7.6%) had achieved at least one spontaneous pregnancy, but 48% of the fertile women registered with 45,X/46,XX had 45,X in less than 10% of the analysed cells. Twenty-five of the 64 children had a chromosome analyzed. Six of the 25 examined children, including three siblings, had chromosomal aberrations. No case of Down's syndrome was present, and only two children had malformations. Fertility in women registered with TS is higher than earlier reported. However, only women with 45,X/46,XX mosaicism or 46,XX and structural abnormality of the second X, gave birth to live children after spontaneous pregnancies.

Adolescent↗

PubMed2002

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.

UNLABELLED: The aim of this case report is to call attention to short-chain acyl-CoA dehydrogenase (SCAD) deficiency as a possible contributory factor to hypoglycaemia in childhood. We report on a previously healthy 14 mo-old Danish boy who presented with hypoglycaemia and metabolic acidosis after a few days of upper airway infection. After two days on a normal diet, he recovered clinically and biochemically. A thorough biochemical examination did not reveal the cause of the hypoglycaemia. However, the excretion of ethylmalonic acid in two morning urine samples was moderately increased, and hence the SCAD gene was screened for mutations. We found the child homozygous for the G > A SCAD gene variation at position 625. CONCLUSION: In this patient, reduced function of the SCAD protein is reflected in the excretion of ethylmalonic acid, a marker of intracellular accumulation of butyryl-CoA and the cytotoxic butyric acid. Furthermore, gluconeogenesis might be compromised owing to lack of reducing equivalents from the oxidation of short-chain fatty acids in the fasting or stressed state, thus contributing to the predisposition for fasting hypoglycaemia.

Acyl-CoA Dehydrogenase↗

PubMed2001

Respiratory tract infections in cytomegalovirus-excreting and nonexcreting infants.

BACKGROUND: There is evidence of an immunosuppressive effect of cytomegalovirus (CMV), and CMV has been claimed to be a copathogen in respiratory tract infections (RTI). We therefore studied the significance of CMV viral load in infants with RTI, compared the frequency of infection with respiratory viruses and followed the course of RTI in CMV-excreting vs. nonexcreting infants. METHODS: We examined 201 infants consecutively admitted to the Department of Pediatrics for RTI. At admission nasopharyngeal aspirates, throat swabs and urine were examined for CMV, and nasopharyngeal aspirates were examined for respiratory viruses. RESULTS: In these patients 23.3% had CMV in the urine, 15.3% had CMV in the throat and 10.9% had CMV in the nasopharynx; 26.2% excreted CMV in at least one site. No relationship was found between CMV viral load and clinical symptoms. Infection with respiratory viruses was as common in infants excreting CMV as in nonexcreting infants. Symptoms and the course of infection were not different in the two groups except that CMV-excreting infants had a significantly higher frequency of rhonchi at admission (P = 0.007) and a tendency for longer duration of cough (P = 0.06). CONCLUSION: CMV viral load was not related to clinical symptoms. The frequency of infection with common respiratory viruses in infants was independent of CMV excretion. The course of infection was not more complicated in infants excreting CMV; however, a higher frequency of rhonchi was demonstrated in patients with CMV.

Child, Preschool↗

PubMed2001

Bordetella pertussis in the aetiology of chronic cough in adults. Diagnostic methods and clinic.

Cough is one of the most common complaints causing patients to seek medical attention, and chronic cough, defined as a cough period of at least three weeks, accounts for more than a third of referrals to a chest physician. Cough is an important factor in the spread and survival of microorganisms, but until recently little attention has been given to Bordetella pertussis (B. pertussis) in patients with chronic cough. This review summarizes the B. pertussis diagnostic methods--culture--polymerase chain reaction (PCR), and serology--and surveys the literature on B. pertussis and chronic cough in adults. There is growing evidence that B. pertussis is an important cause of persistent cough in adults; thus prevalence of pertusssis of 12.4-26% has been reported in studies from US, Australia and Germany. Recently we found evidence of pertussis as the cause of chronic cough in 16% of otherwise healthy adults in Denmark. Therefore, patients with chronic cough should be examined for B. pertussis infection. The demonstration of B. pertussis in an adult patient with chronic cough has two advantages: 1) the patient can be reassured that symptoms will disappear spontaneously, why more or less invasive examinations and empirical therapeutic trials can be omitted, 2) the source of infection can be eradicated, and contact persons, particularly non vaccinated infants in whom pertussis might be very severe, can be treated in order to avoid or attenuate clinical symptoms.

Adult↗

PubMed2000

[Hereditary antithrombin deficiency resulting in severe neonatal thrombosis].

We report a severe vena cava inferior thrombosis in a mature two day-old boy. Pregnancy and birth were event free. The mother had antithrombin deficiency. During pregnancy she was treated with enoxaparin and just before delivery with 2000 IE antithrombin concentrate. At admission the child had unmeasurable antithrombin and low protein C concentrations. He was treated with antithrombin concentrate and heparin. The thrombus disappeared, and now he is on maintenance treatment with warfarin. Risk factors and treatment of inherited antithrombin deficiency are discussed.

Adult↗

PubMed2000

Chlamydia pneumoniae infection in adults with chronic cough compared with healthy blood donors.

In a small uncontrolled study, persistent cough has recently been found to be associated with serological evidence of acute Chlamydia pneumoniae infection. In order to assess whether C. pneumoniae plays a role in chronic cough, the prevalence of C. pneumoniae infection in 201 adult patients with chronic cough was compared with the prevalence in 106 healthy blood donors without respiratory tract symptoms in the preceding 3 months. A microimmunofluorescence antibody test was used to determine C. pneumoniae antibodies in the immunoglobulin (Ig)M, IgG and IgA fractions. Further, nasopharyngeal aspirates from the 201 patients were examined for C. pneumoniae deoxyribonucleic acid by polymerase chain reaction (PCR). As judged by serology, nine patients (4%) and one control (1%) had acute C. pneumoniae infection, and 92 patients (46%) and 42 controls (40%) had previous or chronic C. pneumoniae infection. Of the nine patients with acute infection, three were C. pneumoniae PCR positive, and they all had an IgM antibody titre response. The remaining six patients had either an IgG antibody titre of > or =512 (five patients) or an IgA antibody titre of > or =512 (one patient). None of these six patients had detectable IgM antibodies. The mean cough period for the five IgG positive patients (10.8 weeks) was significantly longer than the mean cough period for the remaining patient population (6.4 weeks; p=0.004). It is concluded that Chlamydia pneumoniae infection was not statistically significantly more prevalent in patients with chronic cough than in healthy blood donors, and that Chlamydia pneumoniae appears to have a minor role in patients with chronic cough. Direct detection of Chlamydia pneumoniae by polymerase chain reaction on nasopharyngeal aspirates is highly correlated with detectable immunoglobulin M antibodies, but in the late stages of prolonged cough serological testing of immunoglobulin G and immunoglobulin A may be more beneficial for obtaining a microbiological diagnosis.

Adult↗

PubMed1999

[Metaphyseal chondrodysplasia].

Metaphyseal chondrodysplasia (MCD) is a heterogeneous group of diseases characterised by defective enchondral ossification, leading to metaphyseal changes. The different types of MCD can be distinguished by clinical findings, radiology and genetic tests. Based on a case story with MCD, pancreatic insufficiency and granulocytopenia (Shwachman's syndrome), we review the most common types of MCD with regard to clinical manifestations, radiological findings, and genetic background.

Adolescent↗

PubMed1999

Bordetella pertussis and chronic cough in adults.

To evaluate Bordetella pertussis as a cause of persistent cough in adults, we examined 201 patients who had a cough for 2-12 weeks and no pulmonary disease. We obtained the following at presentation: medical history, chest radiograph, respiratory function measurement, nasopharyngeal aspirate for polymerase chain reaction (PCR), nasopharyngeal swab specimen for culture, and a blood sample (acute serum). Four weeks later a second blood sample (convalescent serum) was obtained. Control sera were obtained from 164 age-matched healthy blood donors with no history of cough during the previous 12 weeks. Four patients were B. pertussis culture-positive; 11 (including the culture-positive patients) were B. pertussis PCR-positive; and 33, including 10 of the 11 PCR-positive patients, had serological evidence of recent B. pertussis infection. Pertussis-positive and -negative patients could not be discriminated by a history of cough. We conclude that B. pertussis infection is a common cause of persistent cough in adults. This is of concern, because these patients may be B. pertussis reservoirs from which transmission may occur to infants, in whom the disease can be devastating.

Adolescent↗

PubMed1999

Chest roentgenogram in the evaluation of heart defects in asymptomatic infants and children with a cardiac murmur: reproducibility and accuracy.

OBJECTIVES: To evaluate the reproducibility and the accuracy of pediatric radiologists' assessments of chest radiographs with respect to the presence or absence of heart defects in children with an asymptomatic heart murmur. DESIGN: Ninety-eight children, ages 1 month to 15 years (median, 30.1 months), referred for evaluation of a heart murmur were consecutively included. They all had a standard chest radiograph and a color Doppler echocardiograph (CDE) performed. Six specialists in pediatric radiology evaluated the chest radiographs independently on two occasions 6 months apart. The radiologists were asked to classify each set of films into one of two categories: heart disease or no heart disease. The outcome of the CDE was considered the definite diagnosis. kappa statistics were used to analyze the reproducibility of the radiologic assessments. Sensitivity, specificity, and the predictive value of a positive and a negative test were used for evaluation of the accuracy of the radiologic assessments. RESULTS: Mean intra- and interobserver kappa values were all <0.6, and the majority were <0.4. Mean sensitivity was 0.3 (range: 0.17-0.52), mean predictive value of a positive test was 0.4, implying that 60% of the positive assessments were falsely positive. Mean specificity was 0.86 (range: 0.75-0.93) and the mean predictive value of a negative test was 0.80 implying that 20% of the negative assessments were falsely negative. CONCLUSION: We found a low reproducibility, as well as a low accuracy, of the radiologic assessments of the chest radiographs of children with an asymptomatic heart murmur with respect to the presence or absence of heart disease. A false-positive radiologic assessment of the chest radiograph with respect to heart defects causes unnecessary anxiety and further examinations, whereas a false-negative assessment might result in omission of relevant investigations and proper identification of the heart defect. We cannot recommend the use of chest radiographs in the initial evaluation of the asymptomatic child with a heart murmur. If a heart defect cannot be excluded by clinical examination a CDE must be performed.

Adolescent↗

PubMed1998

Growth and endocrinological disorders up to 21 years after treatment for acute lymphoblastic leukemia in childhood.

BACKGROUND: Our aim was to evaluate endocrinological status 10-21 years after treatment for childhood acute lymphoblastic leukemia (ALL) with chemotherapy (C) and cranial irradiation (C + I) or only C, and to correlate the endocrine data with growth parameters. PROCEDURE: Of 30 patients (15 females and 15 males), 18 were treated with C + I and 12 were treated with C only. Height standard deviation score (HSDS) and body mass index standard deviation score (BMISDS) before treatment, at end of treatment, and at follow-up were calculated from height and weight registered from the charts. At follow-up examinations, provocative growth hormone (GH) tests (clonidine and insulin tolerance test) and an ACTH test were performed. Furthermore, blood samples for hormonal analysis, IGF-I, IGFBP-3, GHBP, and leptin were drawn. RESULTS: Eleven patients (9 treated with C + I and 2 treated with C) showed insufficient response to GH tests. Two patients had hypogonadism. HSDS and IGF-I were significantly lower and GHBP significantly higher in GH-deficient patients compared to the group with normal GH secretion at follow-up. BMISDS steadily increased from start of treatment until follow-up, independent of GH status at follow-up. BMISDS at follow-up was positively correlated with serum leptin (P < 0.001), and serum leptin was significantly higher in the cranial irradiated group as compared to the nonirradiated group. CONCLUSIONS: GH deficiency is frequently found at long-term follow-up in patients treated for childhood ALL. Other hormonal deficiencies are rare. HSDS at long-term follow-up is dependent on GH secretory status. Long-term endocrinological follow-up examinations in patients treated for childhood ALL are recommended, as hormonal replacement therapy may be indicated.

Adolescent↗

PubMed1998

Cutis/subcutis thickness at insulin injection sites and localization of simulated insulin boluses in children with type 1 diabetes mellitus: need for individualization of injection technique?

The study aimed to describe the variations of cutis/subcutis thickness at insulin injection sites in children with Type 1 diabetes mellitus and to localize the tissue position of a simulated insulin bolus in order to evaluate the need for individualization of injection technique in children. Cutis/subcutis thickness was measured by ultrasound in 47 children (25 girls and 22 boys) without compression (CSCUT) and with compression (CSCT) of the skin at 11 insulin injection sites. Tissue deposition of insulin was measured by ultrasound of a simulated insulin bolus of 200 microl of sterile air injected by the patients using their usual technique and site. On the thigh, 44% of girls and 95% of boys had a CSCT of less than 8 mm at one of the measured sites, while 16% of girls and 50% of boys had a CSCT of less than 6 mm at one injection site on the thigh and buttock. Significant differences in cutis/subcutis thickness in the same anatomical region were shown. CSCT was up to 35% less than CSCUT. The air bolus injection was placed inappropriately by 19% of children (using 8 mm needles). Unawareness of the skin thickness at the injection sites may contribute to inappropriate deposition. We propose that regular ultrasound measurements of subcutis depth at insulin injection sites be taken. This will allow the injection technique to be individualized (vertical or at an angle of 45 degrees). More children would be able to use the simpler vertical technique if 6 mm needles were used where available, or if even shorter (4 mm) needles were produced.

Adolescent↗

PubMed1998

Height and weight pattern up to 20 years after treatment for acute lymphoblastic leukaemia.

OBJECTIVE: To assess height and body mass index standard deviation scores up to 20 years after treatment for acute lymphoblastic leukaemia (ALL). SUBJECTS AND METHODS: Height and body mass index standard deviation scores were measured in 33 patients (14 boys and 19 girls) with childhood ALL at diagnosis, after the end of treatment, at final height, and at follow up 10-20 years (median, 16.2) after diagnosis. Eleven patients were treated with chemotherapy only and 22 patients were treated with chemotherapy and cranial irradiation. RESULTS: In the chemotherapy only group, height standard deviation scores were the same at follow up as at diagnosis, but there was a significant decrease in height standard deviation scores during treatment. Mean body mass index standard deviation scores increased steadily from the start of treatment until final height and continued to increase from final height until follow up. In the cranially irradiated group, mean height standard deviation scores decreased steadily from the start of treatment until follow up. Mean body mass index standard deviation scores increased continuously from the start of treatment until final height and from final height until follow up. CONCLUSION: Chemotherapy combined with cranial irradiation and chemotherapy alone might be persisting risk factors for obesity even after final/height has been attained in patients treated for childhood ALL. Chemotherapy is a risk factor for reduced final height only when administered in combination with cranial irradiation. These problems need to be recognised and dealt with at follow up examination.

Adolescent↗

PubMed1997

[Budesonide and beclamethasone dipropionate inhalation powders. The effect on bone and collagen turnover in children].

UNLABELLED: The objective of the study was to assess bone and collagen turnover in asthmatic children treated with dry powder budesonide from the Turbohaler and dry powder beclomethasone dipropionate from the Diskhaler in a dose of 800 micrograms/day. Thirteen prepubertal children with asthma were studied. The study was conducted as an open crossover study with two treatment periods and treatment free run-in and wash-out periods. All periods were of two weeks' duration. At day 14 in each period blood samples were taken for assessment of serum osteocalcin, the carboxyterminal propeptide of type I collagen (PICP), and the aminoterminal propeptide of type III collagen (PIIINP). At the same time urine was collected for assessment of creatinine corrected pyridinoline (uPYR/cr) and deoxypyridinoline (udPYR/cr) crosslinks. RESULTS: Osteocalcin concentrations were not influenced by any of the treatments. During budesonide treatment PICP was reduced by 18% (p = 0.03), PIIINP by 24% (p = 0.0002), uPYR/cr by 16% (p = 0.03) and udPYR/cr by 21% (p = 0.12). During treatment with beclomethasone dipropionate PICP was reduced by 20% (p = 0.01), PIIINP by 36% (p = 0.0002), uPYR/cr by 18% (p = 0.004) and udPYR/cr by 13% (p = 0.02). The suppressive effect of beclomethasone dipropionate on PIIINP was more marked than that of budesonide (p = 0.001). It is concluded that treatment with dry powder budesonide and beclomethasone dipropionate 800 micrograms/day is associated with suppression of bone and collagen turnover. The suppression seems to be more marked during treatment with beclomethasone dipropionate. Long term effects and effects of lower doses of budesonide and beclomethasone dipropionate on bone and collagen markers needs further study.

Administration, Inhalation↗

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

[Metaphyseal chondrodysplasia as differential diagnosis to rickets].

Metaphyseal chondrodysplasias are a heterogeneous group of rare disorders, with flaring and irregularity of various metaphyses. The radiographic changes are similar to rickets, but calcium and phosphorus metabolism is normal. Other types are Schmid, Spahr, McKusick, Schwachman and Jansen, which can be separated by clinical, radiographic, genetic and biochemical criteria. We present a patient with metaphyseal chondrodysplasia, Schmid type, whose bone disorder was thought to be rickets and was treated as such.

Diagnosis, Differential↗

PubMed1995

[Pediatric evaluation of children with heart murmurs].

In order to analyse the non-specialized paediatrician's ability to evaluate children with a heart murmur and the consequences of this evaluation for the need of further investigations, we made a prospective and consecutive study concerning 100 children who were referred for initial evaluation of a heart murmur. Based on the clinical evaluation, the children were assigned to one of the three categories of "no heart disease" "heart disease" or "definite heart disease". Within two months each child underwent a complete colour Doppler echocardiographic study. Except for one child with an insignificant peripheral pulmonary artery stenosis, 53% of the children were correctly diagnosed as having no heart disease. We conclude that clinical evaluation without laboratory tests performed by paediatricians without any special training in cardiology could correctly acquit half of the children of heart disease, with no need for further investigation.

Age Factors↗

PubMed1995

Initial evaluation of children with heart murmurs by the non-specialized paediatrician.

UNLABELLED: To analyse the ability of the non-specialized paediatrician to evaluate children with a heart murmur and the consequences of this evaluation for the need of further investigations, we undertook a prospective and consecutive study of 100 children, referred for initial evaluation of a heart murmur. Except for 1 child with a slight peripheral pulmonary artery stenosis, 53% of the children were correctly diagnosed as having no heart disease. In a project design where 47% of the children were referred for an echocardiographic study, no clinically significant heart disease was missed. CONCLUSION: Clinical evaluation without laboratory tests performed by paediatricians without any special training in cardiology could correctly acquit 50% of the children of heart disease, with no need for further investigation.

Adolescent↗