Dan Gustafsson

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21

Atopic dermatitis (eczema) is a chronic inflammatory skin disease with onset mainly in early childhood. It is commonly the initial clinical manifestation of allergic disease, often preceding the onset of respiratory allergies. Along with asthma and allergic rhinitis, atopic dermatitis is an important manifestation of atopy that is characterized by the formation of allergy antibodies (IgE) to environmental allergens. In the developed countries, the prevalence of atopic dermatitis is approximately 15%, with a steady increase over the past decades. Genetic and environmental factors interact to determine disease susceptibility and expression, and twin studies indicate that the genetic contribution is substantial. To identify susceptibility loci for atopic dermatitis, we ascertained 199 families with at least two affected siblings based on established diagnostic criteria. A genome-wide linkage study revealed highly significant evidence for linkage on chromosome 3q21 (Zall=4.31, P= 8.42×10−6). Moreover, this locus provided significant evidence for linkage of allergic sensitization under the assumption of paternal imprinting (hlod=3.71, α=44%), further supporting the presence of an atopy gene in this region. Our findings indicate that distinct genetic factors contribute to susceptibility to atopic dermatitis and that the study of this disease opens new avenues to dissect the genetics of atopy.

Sensitization to food and airborne allergens in children with atopic dermatitis followed up to 7 years of age

Previously we investigated the eczema prognosis and the risk of developing allergic asthma and rhinitis in a cohort of 94 children with atopic dermatitis. In this second study on the same cohort we address the development of sensitization to foods and airborne allergens, risk factors and, the question whether children with atopic dermatitis who will not become sensitized can be recognized early. Children with atopic dermatitis were followed up regularly from infancy or early childhood to 7 years of age with clinical examination and blood sampling. After age 3, skin prick tests with inhalation allergens were performed yearly. In most children both clinical allergy and sensitization to egg and milk were transient but those to peanut were persistent. Eighty per cent of the children became sensitized to airborne allergens and 75% of them noticed symptoms when exposed. Heredity for atopy and eczema, sensitization to hens egg, and early onset of eczema entailed an increased risk of becoming sensitized. Children never sensitized had late onset of eczema and less heredity for atopic disease but did not differ in other respects from the sensitized children.

Effect of asthma in childhood on psycho-social problems in the family

OBJECTIVE The responsibility for treating children with asthma has gradually shifted from the medical health service to the family and parents, which may cause new psycho-social problems in the family. This study aimed at describing the psycho-social effects on families having a child with asthma, and at determining whether a relation exists between the medical severity of disease and psycho-social problems. METHODS The findings are based on a questionnaire with the following domains: economy, work, free time, health, environment, and family, as well as a health-related medical questionnaire. They are built on psycho-social problems and on medical records. RESULTS The frequency of psycho-social problems was high regarding single questions in the evaluated psycho-social domains. A relation was found between high drug consumption and severe psycho-social problems. However, no positive correlation was detected among visits at the hospitals emergency department, absence from school due to asthma or disturbed sleep, and psycho-social problems. On the contrary, a negative correlation was found between absence from school due to asthma and psycho-social problems. CONCLUSION We conclude that for single questions in each psycho-social domain, the problem rate is high, but when taking into account the mean value of different psycho-social problems in each domain, the reported problem rate is fairly low. This method permits selection of the psycho-social domains with the most severe problems in each family. It can, therefore, be used to direct help from the medical service. We also found a relation between the medical severity of asthma and the extent of the psycho-social problems caused by the disease.

Management, asthma control and quality of life in Swedish adolescents with asthma.

AIM In Sweden, paediatricians or general practitioners treat most adolescents with asthma. This study compares management, treatment goals and quality of life for adolescents aged 15-18 y in paediatric or primary care. MATERIAL AND METHODS A random sample of patients answered a disease-specific and a quality-of-life (MiniAQLQ) questionnaire. RESULTS The 146 adolescents in paediatric care had more years with asthma, better continuity of annual surveillance, higher use of inhaled steroids and a stated better knowledge of their asthma than the 174 patients in primary care. No difference could be detected in asthma control or quality of life. Of all 320 adolescents, approximately 20% had woken at night due to asthma symptoms during the last week. About 15% had made unscheduled, urgent care visits and a third had used short-acting beta-agonist relievers more than twice a week. Quality-of-life scores were high and similar in both settings. CONCLUSIONS Swedish adolescents with asthma are managed and treated somewhat differently in paediatric and primary care but with equal and, for the most part, satisfying results. The difference between the two settings probably reflects both differences in severity of asthma and different treatment traditions. For all adolescents, better fulfilment of goals regarding symptoms and exacerbations would be desirable, whereas a good quality of life including normal physical activity seems to have been achieved.

Tissue zinc levels in a child with hypercalprotectinaemia and hyperzincaemia: A case report and a review of the literature.

Abstract Background. A girl suffering from a rare syndrome of unknown aetiology, termed hypercalprotectinaemia, was evaluated for tissue zinc status, because calprotectin is a protein which chelates Zn at multiple binding-sites, which might have affected the distribution of Zn in her body. Methods. Measurement of serum, urine, hair and nail zinc (Zn) concentration, complemented with measurement of total Zn in ultrafiltrates of plasma. Results. Her serum Zn concentration was 105–133 μmol/L. Zn levels in her hair (102 μg/g), nail (90 μg/g) and urine (3–12 μmol/L; 20–80 μg/dL) were all at the lower end of the reference intervals described in the sparse literature. Zn concentrations in ultrafiltrates of plasma were below the detection limit (<100 nmol/L). Thus, the elevated serum Zn did not translate into a similarly increased level of Zn in any of the tissues tested, nor in free Zn concentrations. Instead it appeared to be a result of Zn being chelated to binder proteins, most probably calprotectin. Conclusion. Her grossly elevated serum calprotectin concentration is probably able to raise circulating total Zn concentrations without raising ionized concentrations, but this Zn remains confined to the circulating blood as well as to excreted body fluids, particularly faeces.

Spirometry and lung function in children with congenital deafness

AIM Deaf children do not develop a verbal language and will therefore not experience normal changes in airway pressure produced by speech. The impact on lung development of factors such as talking and screaming has not previously been investigated. METHOD We performed spirometry in 51 children with congenital deafness without other medical problems and compared the results with 82 healthy hearing controls. RESULTS The deaf children had poorer spirometry results. They participated in the spirometry manoeuvre with less enthusiasm than the controls. This was due to difficulty in giving non-verbal instructions in an enthusiastic way. When comparing only those in the two groups whose participation in the spirometry testing was evaluated as very good, poorer results were nevertheless obtained by the deaf group. CONCLUSION We conclude that spirometry instructions for deaf children must be improved. Furthermore, a positive effect on lung development through use of the lungs for speech and screaming cannot be excluded.

Intervention models on psycho‐social health in families with an asthmatic child

Despite an increase in the prevalence of asthma during the last few decades, the need for hospital treatment of children with asthma has become less. One reason for this is that children and their parents are now more involved in the treatment of the disease, and responsibility has been shifted from the medical care system to the family. This new responsibility may cause increased psycho‐social tension within the family. We conducted a pilot study on three limited methods of intervention to find the best way to help families in this respect. All three methods (individual family meetings, family group meetings, and evaluation of the childs environment in school) reduced the psycho‐social burden of having a child with asthma. This indicates that families should be supported by being given the opportunity to participate in meetings to discuss the disease or to have the environment in the childs school evaluated, in addition to receiving regular medical care.

A diagnosis hard to catch (Case Presentation)

and heart rate, unconsciousness, respiratory failure and dilated fixed pupils. An emergency MRI, in addition to previous findings, shows cerebral oedema with compression of the lateral ventricles and a significant midline shift with signs of cerebrospinal fluid circulation obstruction, central herniation and lack of perfusion. Decompressive craniotomy at that stage is not performed due to poor prognosis and further treatment is withdrawn following isoelectric EEG. A postmortem autopsy is refused by the parents.

Recovery from food protein-induced enterocolitis syndrome caused by fish

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Management, asthma control and quality of life in Swedish adolescents with asthma: Adolescents with asthma

Aim: In Sweden, paediatricians or general practitioners treat most adolescents with asthma. This study compares management, treatment goals and quality of life for adolescents aged 15–18 y in paediatric or primary care. Material and methods: A random sample of patients answered a disease‐specific and a quality‐of‐life (MiniAQLQ) questionnaire. Results: The 146 adolescents in paediatric care had more years with asthma, better continuity of annual surveillance, higher use of inhaled steroids and a stated better knowledge of their asthma than the 174 patients in primary care. No difference could be detected in asthma control or quality of life. Of all 320 adolescents, approximately 20% had woken at night due to asthma symptoms during the last week. About 15% had made unscheduled, urgent care visits and a third had used short‐acting beta‐agonist relievers more than twice a week. Quality‐of‐life scores were high and similar in both settings.