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Biomedical subjects

T Herlin

Publications and source records attributed to T Herlin.

At least 19 recordsLinked to original sources
PubMed2006

Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections.

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

Base Sequence↗
PubMed2001

Pain experience and pain coping strategies in children with juvenile idiopathic arthritis.

OBJECTIVE: To compare reactions to cold pressor pain and pain coping strategies of patients with juvenile idiopathic arthritis (JIA), healthy children, and their parents. METHODS: We studied 16 children with JIA and one of their parents and 14 healthy children and one of their parents. Patients with JIA were selected from the patient population by fulfilling criteria for inclusion in a "high pain" group (n = 7) of patients with modest clinical arthritis activity, but who presented daily reports of pain in connection with everyday activities, and a "low pain" group (n = 9) who presented significant clinical arthritis activity, but who had only a few complaints of pain related to everyday activities. Dependent variables included pain threshold, discomfort, intensity and tolerance to cold pressor pain, and pain coping strategies. RESULTS: Patients with JIA exhibited significantly lower mean pain tolerance than healthy children. Disease duration correlated with both experimental and clinical pain measures, and JIA patients used significantly more Behavioral Distraction than healthy children. Correlations were found between children's and parents' use of Approach and Distraction related coping strategies. Correlations were also found for the coping strategy of Catastrophizing in the JIA patient group. For experimental pain coping strategies, a significant correlation was found between the JIA patients' and their parents' use of Distraction. For the JIA patients Positive Self-statements and Behavioral Distraction were inversely correlated with the clinical pain measures. In both children and parents the experimental pain coping strategies of Catastrophizing and Distraction were associated with the experimental pain response measures, and low pain JIA patients tended to use more Distraction pain coping strategies than high pain patients. CONCLUSION: The results indicate that JIA patients may differ from healthy children with regard to their responses to experimental pain as well as to their use of pain coping strategies. Pain coping strategies of JIA patients were associated with pain coping strategies of their parents, and use of pain coping strategies was associated with both experimental and clinical pain experience.

Adaptation, Psychological↗
PubMed2001

Resorption of the temporomandibular condylar bone according to subtypes of juvenile chronic arthritis.

OBJECTIVE: To evaluate the relative impact of sex, type of onset, course of disease, age at onset, duration of disease and status of HLA-B27, antinuclear antibodies (ANA), and rheumatoid factor on the risk of developing a condylar erosion. METHODS: Condylar changes of the temporomandibular joint (TMJ) were diagnosed on orthopantomograms from 169 consecutive patients with juvenile chronic arthritis (JCA). A multiple regression analysis was applied to establish the relative weight of the independent variables affecting the severity of the condylar erosion. RESULTS: It was found that 62.1% of the patients exhibited condylar resorption. The highest prevalence was seen in children with a polyarticular onset or course of disease and early age at onset and severe resorption was also frequent in these groups. Patients with positive ANA also had a high prevalence but with a mild degree of resorption. In contrast, HLA-B27 positive patients had a lower risk of TMJ involvement and resorptive changes of the condyle. CONCLUSION: Polyarticular and early onset arthritis are associated with a high risk for TMJ involvement and a severe condylar bone loss can be expected. ANA positive patients have a high prevalence, and B27 positive patients have a low prevalence of TMJ arthritis but in both subgroups, the outcome of the bone resorptive process is mild.

Adolescent↗
PubMed2000

A novel splicing mutation in the V2 vasopressin receptor.

In order to elucidate the molecular basis and the clinical characteristics of X-linked recessive nephrogenic diabetes insipidus (CNDI) in a kindred of Danish descent, we performed direct sequencing of the arginine vasopressin receptor 2 (AVPR2) gene in five members of the family, as well as clinical investigations comprising a fluid deprivation test and a 1-deamino-8-D-arginine-vasopressin (dDAVP) infusion test in the study subject and his mother. We found a highly unusual, novel, de novo 1447A-->C point mutation (gDNA), involving the invariable splice acceptor of the second intron of the gene in both the affected male (hemizygous) and his mother (heterozygous). This mutation is likely to cause aberrant splicing of the terminal intron of the gene, leading to a non-functional AVP receptor. The clinical studies were consistent with such a hypothesis, as the affected subject had a severe insensitivity to both the antidiuretic and the coagulation factors stimulatory actions of AVP and its analogue dDAVP. Direct sequencing of the AVPR2 is an accurate and rapid diagnostic tool for CNDI and early referral of patients for AVPR2 sequencing is therefore strongly suggested.

Alternative Splicing↗
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

A Danish adaptation of the Pain Coping Questionnaire for children: preliminary data concerning reliability and validity.

The aim of this study was to determine the reliability and validity of a Danish translation of the Pain Coping Questionnaire (PCQ) for children in Danish children. The PCQ was translated using a translation-back-translation method. The subjects were 352 healthy children and 40 children with juvenile arthritis (JA), aged 8-17 y. Sixteen of the JA children were divided into a high-pain group (n = 7) and a low-pain group (n = 9). The results were factor analysed using principal component analysis with varimax rotation. Clinical pain intensity was measured using visual analogue scales (VAS) from the Varni/Thompson Pediatric Pain Questionnaire. Experimental pain was induced using a cold pressor pain paradigm and outcome measures were pain intensity, pain discomfort and tolerance to cold pressor pain. A seven-factor solution emerged as the most consistent factor structure. Four subscales, Seeking Social Support (SSS), Cognitive Distraction (CD), Externalizing (EXT) and Internalizing/Catastrophizing (INT), corresponded with the parallel subscales proposed by Reid et al. (Pain 1998; 76: 83-96). Two subscales, Positive Self-Statements (PSS) and Behavioral Distraction (BD), were composed of four of the five items from the previously proposed subscales. One subscale, Information Seeking/Problem Solving (IP), consisted of items from two subscales proposed by Reid et al., i.e. Information Seeking and Problem Solving. Internal consistencies of the subscales were acceptable, with reliability coefficients ranging from 0.60 (BD) to 0.83 (IP) and with test-retest reliabilities between 0.59 and 0.78. Low-pain JA patients showed significantly higher levels of BD than High-pain JA patients (p<0.05). Greater utilization of PSS and BD was associated with less patient-reported present pain and less average everyday pain (p<0.05-0.01), and greater utilization of INT was significantly associated with higher experimental pain intensity (p<0.01). These preliminary findings provide support for the reliability and validity of the Danish modification of the PCQ in a Danish population and for the hypothesis that paediatric pain-coping strategies are associated with the intensity of clinical and experimental pain.

Adaptation, Psychological↗
PubMed1999

Stereological quantification of mast cells in human synovium.

Mast cells participate in both the acute allergic reaction as well as in chronic inflammatory diseases. Earlier studies have revealed divergent results regarding the quantification of mast cells in the human synovium. The aim of the present study was therefore to quantify these cells in the human synovium, using stereological techniques. Different methods of staining and quantification have previously been used for mast cell quantification in human synovium. Stereological techniques provide precise and unbiased information on the number of cell profiles in two-dimensional tissue sections of, in this case, human synovium. In 10 patients suffering from osteoarthritis a median of 3.6 mast cells/mm2 synovial membrane was found. The total number of cells (synoviocytes, fibroblasts, lymphocytes, leukocytes) present was 395.9 cells/mm2 (median). The mast cells constituted 0.8% of all the cell profiles present in the synovium. A significantly positive correlation was demonstrated between the number of mast cells and the total number of cells. Thus, the present study reports stereological quantification of the mast cells and the total number of cells in synovium from patients with osteoarthritis. A possible link between the mast cell and osteoarthritis is discussed upon obtaining a precise estimate of cell profiles in human synovium.

Adult↗
PubMed1999

Epidemiology of juvenile chronic arthritis: risk dependent on sibship, parental income, and housing.

OBJECTIVE: We studied the socioeconomic background of children with juvenile chronic arthritis (JCA) diagnosed during the years 1988-91 in Denmark. The working hypothesis is that JCA may be triggered by one or several different infectious agents and that the amount of exposure to infectious agents in infancy and childhood affects the risk of JCA. METHODS: In this case-control study, we investigated socioeconomic variables prior to disease onset from national registers, primarily the Fertility Database of Statistics Denmark, in a national cohort of all 220 known cases of JCA fulfilling the EULAR criteria incident during the years 1988-91, identified from national and local diagnosis registers. There were 4 controls per case, matched for sex, age, and county of residence. Socioeconomic variables as risk factors were quantified by odds ratios, which are equivalent to relative risks of contracting JCA if exposed to a risk factor. RESULTS: Three socioeconomic variables were significantly and mutually independently associated with the risk of developing JCA during the following year. An only child had a risk of JCA 1.6 times that of a child with siblings. Children whose parents had a high income had a relative risk of 1.9. Children living in an urban flat had a risk 2.7 times that of children living on a farm. We found no space-time clustering of cases and no cyclical variations of incidence rates. CONCLUSION: The absence of clustering and of seasonal variation does not support a theory of triggering by infection. The hitherto unreported effects of the socioeconomic variables on the risk of JCA are of the same order of magnitude as reported for certain HLA alleles. Our findings do not lend full support to either of the 2 mechanisms, that growing up under either hygienic or unhygienic conditions increases the risk of JCA, and lack an obvious biological explanation.

Adolescent↗
PubMed1998

[Neonatal lupus syndrome. Association with complete congenital atrioventricular block].

Neonatal lupus erythematosus (NLE) is characterized by persistent congenital complete heart block, often without any other structural heart defects. Lupus-like dermatitis is seen transiently, more rarely hepatitis and thrombocytopenia occurs. Recent investigations have shown a close relation between NLE and maternal anti-Ro/La antibodies. These antibodies seem responsible for the destruction of the bundle of His and the AV node in the foetus. Total AV block is seen in 1:15.-22,000 of liveborn children, 70-90% of them are caused by NLE. It is difficult to identify the pregnancies at risk since at delivery most of the mothers (up to 66%) are without symptoms. If the mother has anti-Ro/La antibodies the risk for having a child with NLE is probably less than 5%. However, new investigations have shown that mothers who in addition have anti-DNA antibodies have significantly lower risk of bearing a child with NLE. In most cases foetal complete AV block is found accidentally during pregnancy. Slow foetal heart rate with the demonstration of AV dissociation should not, unless the foetus shows sign of incompensation, lead to acute delivery, but pregnancy should be monitored carefully by serial echocardiography. More than half of the children with congenital heart block need pacemaker therapy shortly after birth. The other children should be followed closely for signs of incompensation and may need pacemaker therapy later on.

Autoantibodies↗
PubMed1998

Contrast enhanced magnetic resonance imaging as a method to diagnose early inflammatory changes in the temporomandibular joint in children with juvenile chronic arthritis.

OBJECTIVE: Recent studies have stressed early diagnosis of temporomandibular joint (TMJ) involvement in children with juvenile chronic arthritis (JCA) to initiate treatment before destruction of the condylar head and growth alterations take place. TMJ involvement is often asymptomatic, but studies with contrast enhanced magnetic resonance imaging (MRI) in other joints have shown that it is possible to detect the early inflammatory changes. METHODS: Thirty TMJ in 15 children with newly diagnosed JCA (mean age 12.0 years) were examined clinically, with radiographs and with MRI enhanced with gadolinium diethylene thiamine pentaacetic acid (Gd-DTPA). A control group of 10 healthy children (mean age 11.5 yrs) were examined clinically and with MRI. The MRI variables included T1 weighted images before and after administration of Gd-DTPA with and without fat suppression. RESULTS: MRI enhanced with Gd-DTPA indicated inflammatory activity in 87% of the patients. Conventional MRI without contrast medium proved to be insignificant in diagnosing early inflammatory changes. CONCLUSION: Enhanced MRI is very efficient in diagnosing early inflammatory changes of the TMJ and is a more sensitive method than the clinical examination and radiographs.

Adolescent↗
PubMed1997

A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region.

Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.

Child↗
PubMed1997

Cold pressor pain: comparing responses of juvenile arthritis patients and their parents.

UNLABELLED: The objective of this study was to compare the reactions to experimental cold pressor pain of Juvenile Arthritis (JA) patients, healthy children, and their parents. METHODS: We compared pain threshold, discomfort, intensity, and tolerance to experimental cold pressor pain in 15 JA patients (age 9-15) and one of their parents and a control group of 25 healthy children (age 9-12) and one of their parents. RESULTS: JA-patients exhibited significantly lower mean pain tolerance than healthy children. Pain tolerance correlated significantly with disease duration. Parents of JA-patients showed significantly greater mean pain intensity than parents of healthy children, and had higher estimates of their child's ability to endure pain than parents of healthy children. Correlations were found between pain scores of children and their parents for both pain intensity and tolerance. The pain coping category of Catastrophizing was associated with several of the experimental pain response measures. CONCLUSION: The results suggest that JA patients may differ from healthy children with regard to their responses to experimental pain, and that pain responses of both JA patients and healthy children could be related to the pain response of their parents.

Adolescent↗
PubMed1996

Histamine releasing cells of the newborn. Mast cells from the umbilical cord matrix and basophils from cord blood.

The cellular branch of the immune defence in the newborn has been shown to differ from adults in a number of ways. This report presents new data on the functions of the histamine-secreting cells of the newborn. Mast cells of the newborn were obtained from the human umbilical cord by enzymatic dispersion. The granules of the mast cells of the umbilical cord were found to contain both chymase and tryptase by immunohistochemical staining, and the presence of cell-bound IgE on the mast cell surface was demonstrated by staining sections of umbilical cord with peroxidase-conjugated anti-IgE. The enzymatic dispersion yielded 12,660 mast cells per gram umbilical cord (median), range 2,500-60,300 (n = 48). The mast cells were found to constitute 3.1% of the total nucleated cells in the dispersate (median), range 1.5-3.8%. The histamine release from these cells was measured using a glass microfibre-based method. Both the umbilical cord mast cells and the cord blood basophils released histamine stimulated with anti-IgE, concanavalin A and the calcium ionophore A23187. In contrast to mast cells from adult tissue, the phorbol ester TPA was found to be an efficient secretagogue in both mast cells and basophils from the newborn. After maximal stimulation with anti-IgE and phorbol ester the quantity of histamine released per millilitre of blood was significantly higher in cord blood than in adult blood. The spontaneous histamine release from cord blood basophils was also significantly higher than from adult blood basophils. The mast cells found in the umbilical cord matrix and the cord blood basophils represent a readily available source of metabolically active histamine releasing cells for exploration of the role of histamine-secreting cells in newborn immune defence.

Adult↗
PubMed1995

[Thyroid involvement in systemic lupus erythematosus].

Systemic lupus erythematosus (SLE) is a rare disease in childhood, and is characterized by widespread inflammation of blood vessels and connective tissue. Although the disease affects a number of different organs, thyroid involvement is not included in the classification criteria set of SLE. We describe two cases of irls with SLE who developed thyroiditis with goitre, thyroid autoantibodies, elevated serum TSH and decreased thyroid function tests. One patient had thyroiditis eighteen months before SLE was diagnosed and the other developed thyroiditis six months after the onset of SLE. Recent prospective studies have shown that thyroid involvement in SLE presenting either as hyper- or hypothyroidism is more common among children than adults. We therefore recommend that thyroid function tests should regularly be performed in juvenile SLE patients and, conversely, that child patients with Hashimoto's thyroiditis should be examined for symptoms and serology of SLE.

Adolescent↗
PubMed1995

Condylar condition and mandibular growth during early functional treatment of children with juvenile chronic arthritis.

TMJ involvement in children with Juvenile Chronic Arthritis (JCA) will frequently cause disturbance of the growth of the mandible. Orthodontic treatment of these patients often includes orthognathic surgery, and are complicated to handle with respect to the damaged joint and impaired function. The aim of this presentation is to suggest an early treatment with a functional splint appliance, a distraction splint, with the purpose of increasing function of the joint and ensuring continuous growth of the mandible.

Arthritis, Juvenile↗
PubMed1994

[Kawasaki disease. Incidence in Denmark during the period 1981-1990].

The aim of the study was to estimate the incidence of Kawasaki's disease and to describe the clinical manifestations and the prognosis of the disease in children in Denmark during the period 1981-1990. In a register of all hospital admissions in Denmark, 99 patients were registered as having Kawasaki's disease. Of those, 89 patients fulfilled the clinical diagnostic criteria. The mean incidence of the ten year period was 1.0 per 100,000 children per year. The incidence of the disease decreased in the age group from zero to seven years after which it was rarely observed. Typical laboratory findings were hypersedimentation, leucocytosis and thrombocytosis. Eight children had cardiomegaly and three had electrocardiographic changes. Echocardiography was performed in 66 patients showing coronary artery aneurysms in nine patients (14%) (six boys and three girls). No further cardiac complications were found.

Adolescent↗