B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency.

Immunosuppression-associated lymphoproliferative disorders can be related to primary as well as acquired immune disorders. Interferon gamma receptor (IFN-γR) deficiency is a rare primary immune disorder, characterized by increased susceptibility to mycobacterial infections. Here we report the first case of an Epstein Barr Virus (EBV) related B-cell lymphoma in a patient with complete IFN-γR1 deficiency.

[Why do Ibsen's children die?].

Death of children is a remarkably frequent theme in Henrik Ibsen's writings and may be a key to understanding of his work. In this paper I refer to writings where children die, and I analyze case histories and question of causes. The medical courses are very diverse.

[Cholera and quarantine in Kristiansand].

Unlabelled: BACKGROUND AND MATERIAL: Cholera was the horror disease in Norwegian cities in the 18th century. The City of Kristiansand had a quarantine station and hospital at Odderøy island from 1804. We have studied the quarantine organisation and compared the number of cholera deaths in different cities along the coast.

[A three-year-old boy with hypoglycaemia].

Inhaled corticosteroids are a well established and effective treatment for asthma in children. However, some children develop systemic side effects including adrenal suppression when using moderate to high doses. Over the last few years, several severe acute adrenal crises with hypoglycaemia in patients using inhaled corticosteroids have been reported.

Stimulant medication in 47,XYY syndrome: a report of two cases.

In two males, 11 and 12 years of age, referred for attention-deficit-hyperactivity disorder (ADHD), 47,XYY syndrome was diagnosed. A team that included a neuropsychologist, a physiotherapist, and a physician examined them. Stature (patients were above 97.

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Growth hormone insensitivity syndrome (GHIS; also known as Laron syndrome), is characterized by severe postnatal growth failure and normal growth hormone. The syndrome is frequently caused by point mutations in the growth hormone receptor gene (GHR). Here we report five families with GHIS and partial deletions of the GHR gene.

Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency.

Mycobacterial infections are critically controlled by interferon-gamma (IFN-gamma) and the cellular responses it elaborates, as shown by patients with mutations in the IFN-gamma receptor ligand-binding chain (IFN-gamma R1) who have disseminated nontuberculous mycobacterial infections. The immunologic sequelae of IFN-gamma R1 deficiency were characterized in 2 unrelated patients from the Indian subcontinent with novel homozygous recessive IFN-gamma R1 mutations. In vitro, these patients' peripheral blood mononuclear cells produced 10% of normal IFN-gamma and interleukin-12 (IL-12) in response to phytohemagglutinin (PHA) but normal amounts of IFN-gamma in response to PHA plus IL-12.

Familial disseminated infection due to atypical mycobacteria with childhood onset.

We describe two brothers of consanguineous Pakistani parents who lived in Norway and had disseminated infections due to nontuberculous mycobacteria. The first boy developed clinical signs of disseminated BCG infection after vaccination. He was successfully treated with antimycobacterial agents.

[47,XYY syndrome. Is diagnosis of significance?].

Over a 10-year period, from 1984-1995, in the Norwegian county of Vest-Agder, five patients in a paediatric clinic were diagnosed as having chromosome constitution 47,XYY. There are 1,250 males born a year in Vest-Agder. The patients were identified with bias, and not in a routine or prospective screening programme.

[Infant mortality in Kristiansand. The 150-year anniversary of doctor Lochmann and comparison with current statistics].

Professor Ernst Ferdinand Lochmann (1820-91) was born in Kristiansand, Norway. His ideas on infectious diseases, e.g.

[Growth hormone resistance. Genetic defects and therapy in Laron syndrome and similar conditions].

Two siblings with Laron syndrome from Cambodia, Asia, are described. They fulfilled the strict diagnostic criteria for the syndrome, including an IGF-1 generation test with growth hormone. The growth hormone binding protein levels where lower than 2%.

Increased neutrophil insulin-like growth factor-I (IGF-I) receptor expression and IGF-I-induced functional capacity in patients with untreated Laron syndrome.

Insulin-like growth factor-I (IGF-I) is a growth hormone-dependent peptide with growth and immunoregulatory properties, and in Laron syndrome growth hormone insensitivity induces impaired production of IGF-I. In the present study we have determined the neutrophil expression of IGF-I receptors (IGF-I-Rs), as well as the IGF-I-induced priming of neutrophil functional capacity, in two children with Laron syndrome treated with recombinant human IGF-I, and in age-matched controls. Before treatment, the patient neutrophil expression of IGF-I-Rs was significantly increased.

[Familial hypercholesterolemia in children. A management program. Procedures for diagnosis and treatment in our pediatric departments].

A Norwegian programme for treatment and selective screening of familial hypercholesterolaemia has been developed which takes into account family history and levels of hypercholesterolaemia. The programme includes recommendations on when and whom to screen for familial hypercholesterolaemia. With regard to treatment, special emphasis is placed on diet.

[Diagnosis and treatment of familial hypercholesterolemia in children and adolescents].

The identification and management of hyperlipidemias in children are currently limited to persons regarded as being at very high risk, such as those with familial hypercholesterolemia. Universal screening of children is not recommended, but it is important to screen the subset of children and adolescents at highest risk, i.e.

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies.

Ehlers-Danlos syndrome and diverticula of the bladder.

Cases of two boys, 6 and 4 years old respectively, with Ehlers-Danlos syndrome (EDS) and large bladder diverticula, are reported. Diverticulectomies were performed, but large diverticula reappeared in both patients. A connection between the increased extensibility of the connective tissue in EDS and the development of bladder diverticula is suggested.