Niels H. Birkebaek
Aarhus University Hospital
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Featured researches published by Niels H. Birkebaek.
Clinical Infectious Diseases | 1999
Niels H. Birkebaek; Max Kristiansen; Torben Seefeldt; Jørgen Degn; Axel Møller; Iver Heron; Paul Andersen; Jens K. Møller; Lars Østergård
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.
The Lancet | 2001
Anne Braae Olesen; Svend Juul; Niels H. Birkebaek; Kristian Thestrup-Pedersen
BACKGROUND Up to two-thirds of children with atopic dermatitis have IgE-mediated allergic reactions and a Th2 immune reactivity pattern with low production of interferon gamma and high production of interleukin 4 after allergen stimulation of T lymphocytes. Insulin-dependent diabetes mellitus (IDDM) seems to be associated with a Th1 immune reactivity pattern. We therefore postulated that these diseases may be inversely associated. METHODS We designed a case-control study including 920 children with IDDM, registered in the Danish Registry for Childhood Diabetes, and a sample of 9732 non-diabetic children registered in the Danish Medical Birth Registry. The children were aged 3-15 years. Information on atopic dermatitis was obtained by questionnaires. FINDINGS The cumulative incidence of atopic dermatitis up to age 15 years was 13.1% among children with IDDM and 19.8% in non-diabetic children (p<0.0001). Among children who developed IDDM, the incidence of atopic dermatitis was significantly lower than in the controls before onset of IDDM (73 cases in 5314 person-months vs 1375 in 57432 person-months; odds ratio 0.49 [0.39-0.63]). After onset of IDDM, diabetic and non-diabetic groups did not differ in incidence of atopic dermatitis (1.36 [0.89-2.07]). INTERPRETATION Our findings may be explained by different acquired or inherited reactivity patterns associated with atopic dermatitis (Th2) and IDDM (Th1). The results do not allow us to find out whether early development of atopic dermatitis reduces the risk of IDDM, or a propensity for IDDM reduces the risk of early-onset atopic dermatitis.
European Journal of Cancer | 2013
Erik Ernst; Mimi Kjærsgaard; Niels H. Birkebaek; Niels Clausen; Claus Yding Andersen
AIM OF THE STUDY To induce puberty by transplantation of frozen/thawed ovarian tissue collected prior to gonadotoxic treatment for a cancer. PATIENTS AND METHODS A 9-year-old girl with Ewing sarcoma had one ovary excised and cryopreserved prior to chemo- and radiotherapy. Functional activity of the remaining ovary was destroyed during treatment. Four and a half years later the girl remained pre-pubertal with postmenopausal levels of FSH. Two of ten pieces of frozen/thawed cortex were transplanted to the remaining ovary in order to stimulate puberty. RESULTS Four months after the transplantation FSH returned to low levels. During the following year puberty gradually progressed to Tanner stage B4 and P3 and regular menstrual cycles started. However, after 19 months the function of the graft ceased. CONCLUSIONS We have shown for the first time in a girl treated for cancer that transplanted ovarian tissue can regain function and secrete estradiol in a sufficient amount to induce puberty. In addition, the majority of her ovarian tissue remains frozen with a possibility to support fertility in adult life.
European Journal of Human Genetics | 2001
Anders D. Børglum; Thomas Balslev; Annette Haagerup; Niels H. Birkebaek; Helle Glud Binderup; Torben A. Kruse; Jens Michael Hertz
Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic ‘bird-headed’ facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a ∼30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.
Journal of Pediatric Gastroenterology and Nutrition | 2012
Henning Grønbæk; Aksel Lange; Niels H. Birkebaek; Peter Holland-Fischer; Jan Solvig; Arne Hørlyck; Kurt Kristensen; Søren Rittig; Hendrik Vilstrup
Background and Objective: Childhood nonalcoholic fatty liver disease (NAFLD) associated with insulin resistance and obesity is a growing problem and increases the risk of cirrhosis, type 2 diabetes mellitus, and cardiovascular complications. We examined the effects of a 10-week “weight loss camp” residency in obese children on the prevalence and degree of NAFLD and insulin sensitivity with 12-month follow-up. Methods: At the camp, 117 obese white children (body mass index 28.0 ± 3.6 kg/m2, age 12.1 ± 1.3 years) exercised moderately for 1 hour/day and restricted their energy intake to induce weight loss. NAFLD was diagnosed and graded using ultrasound and transaminasemia. Insulin sensitivity and glucose tolerance were assessed using homeostasis model assessment and oral glucose tolerance test. We performed anthropometric measurements and determined body composition using bioimpedance. Data were collected from 71 of 117 children at entry, after the 10 weeks at the camp, and 12 months after the camp ended. Results: The children showed an average weight loss of 7.1 ± 2.7 kg during the camp. At baseline, 43% had ultrasonographic liver steatosis, 50% elevated transaminases (>25 IU/L), and reduced insulin sensitivity. These abnormalities were mutually related and improved significantly during the camp (P ⩽ 0.05). Liver fat improvement was sustained at 12 months. At the 12-month follow-up, 17 of 71 (24%) children maintained the body weight. Conclusions: This short-term diet and exercise program induced weight loss, markedly improved all aspects of the threatening condition of NAFLD, and reduced insulin sensitivity in childhood obesity; 24% of the children maintained weight loss at least until the 12-month follow-up.
Diabetic Medicine | 1998
Niels H. Birkebaek; A. Johansen; J. Solvig
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 μl 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°). 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.
Clinical Endocrinology | 2008
Niels Holmark Andersen; Anders Bojesen; Kurt Kristensen; Niels H. Birkebaek; Jens Fedder; Paul Bennett; Jens Sandahl Christiansen; Claus Højbjerg Gravholt
Objective Epidemiological data suggest there is an increased risk of dying from heart disease among patients with Klinefelter syndrome (KS). Due to high prevalence of hypogonadism and metabolic syndrome, we speculated that patients with KS may have subclinical changes in the left ventricular function. Therefore, the aim was to assess left ventricular long axis function by tissue Doppler echocardiography in patients with KS and relate these findings to the metabolic status and testosterone levels.
Acta Paediatrica | 2007
M. Rahbek Schmidt; Niels H. Birkebaek; I Gonzalez; Lone Sunde
Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3‐methylglutaconic (3‐mgc) aciduria. 3‐mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion.
Acta Paediatrica | 2007
Niels H. Birkebaek; H Simonsen; Niels Gregersen
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.
European Journal of Medical Genetics | 2013
Christina Fagerberg; Jesper Graakjaer; Ulrike D. Heinl; Lilian Bomme Ousager; Inken Dreyer; Maria Kirchhoff; Anders Aamann Rasmussen; Charlotte Kvist Lautrup; Niels H. Birkebaek; Keld E. Sørensen
22q11.2 distal deletion syndrome is distinct from the common 22q11.2 deletion syndrome and caused by microdeletions localized adjacent to the common 22q11 deletion at its telomeric end. Most distal deletions of 22q11 extend from LCR22-4 to an LCR in the range LCR22-5 to LCR22-8. We present three patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral fissures, thin upper lip, and ear tags. Very distal deletions including region LCR22-6 to LCR22-7 encompassing the SMARCB1-gene are associated with an increased risk of malignant rhabdoid tumors.