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Biomedical subjects

B B Jacobsen

Publications and source records attributed to B B Jacobsen.

At least 19 recordsLinked to original sources
PubMed1995

Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions.

Myelodysplastic syndrome (MDS) in childhood is considered to be very rare, but sound epidemiologic data are lacking. We report a population-based study of MDS in Denmark from 1980 to 1991. The medical charts were reviewed of 988 children identified from the Danish National Hospital Discharge Registry with a diagnosis of myeloid leukemia or blood cytopenia. Blood and bone marrow smears from all cases of possible MDS were re-evaluated. The cases were categorized according to the FAB classification, with the exception of chronic myelomonocytic leukemia (CMML) in which more than 5% myeloblasts in the blood was accepted. Juvenile chronic myeloid leukemia (JCML) was included as CMML. MDS was diagnosed in 46 children representing 9% of all hematologic malignancies in children less than 15 years of age. The annual incidence was 4.0/million and did not increase with time. Refractory anemia with excess of blasts and CMML each accounted for one third of the cases. Down syndrome was present in seven children. Other predisposing conditions included Fanconi anemia, neurofibromatosis, constitutional trisomy 8 mosaicism, and familial leukemia. Only one child had therapy-related MDS. The study indicates that the incidence of childhood MDS is higher than generally assumed and approximate to the incidence of acute myeloid leukemia.

Adolescent↗
PubMed1992

Mediastinal germ cell tumour associated with Klinefelter syndrome. A report of case and review of the literature.

A 14-year-old boy with Klinefelter syndrome (KS) and a large mediastinal tumour is presented. Human chorionic gonadotropin and oestradiol were markedly increased. An attempt at radical resection was performed. Histological examination revealed a malignant germ cell tumour of mixed histologic pattern composed of choriocarcinoma and components of mature teratoma. Four courses of cisplatin, bleomycin, and etoposide were given. The patient is without any evidence of tumour recurrence 20 months after diagnosis. A review of the literature revealed another 40 cases of primary mediastinal germ cell tumour (PMGCT) associated with KS. Compiled data from larger series demonstrate that at least 8% of male patients with PMGCT have KS, 50 times the expected frequency. In contrast to PMGCT in patients without KS, all tumours were of nonseminomatous histology, and the average age was considerably lower, Tumours in prepubertal boys were associated with precocious puberty.

Adolescent↗
PubMed1992

Germ cell neoplasms in three intersex patients with 46,XY karyotype.

This report presents 3 cases with gonadoblastoma mixed with other germ cell tumours in intersex patients, all with a 46,XY karyotype. One 11-year-old patient was a true hermaphrodite, the others, aged 13 and 18, respectively, had both gonadal dysgenesis. Different clinical courses have been noted. Two patients had gonadoblastoma combined with dysgerminoma; in one of them a teratoma was also found. In the third case gonadoblastoma was transformed into teratocarcinoma. The malignant degeneration was more serious in the 2 pubertal patients. Thus, we recommend early and prophylactic gonadectomy.

Adolescent↗
PubMed1992

Myelodysplastic syndromes in childhood: a population based study of nine cases.

Nine cases of de novo myelodysplastic syndromes (MDS) in childhood from a population based study are presented. The annual incidence of MDS was 3.4/1,000,000 in children less than 15 years old, corresponding to 8.7% of all haematological malignancies in childhood. Two patients had Down's syndrome. None of the remaining patients had constitutional anomalies. All patients were classified according to the FAB classification. Five patients presented with refractory anaemia (RA), only one of these did not progress, one showed clonal evolution, and the remaining three patients all progressed to refractory anaemia with excess of blasts (RAEB). Three patients presented with RAEB. Two progressed to overt leukaemia. The last patient was classified as chronic myelomonocytic leukaemia (CMML). Clonal cytogenetic abnormalities were detected in five patients, in three of them as monosomy 7. Five patients have died; two of progressive disease, two of infections, and one of haemorrhage, two of the latter three patients died during therapy induced cytopenia. Of the four patients still alive, one patient showed a complete remission after cyclosporine and later immunoglobulin therapy, one patient is a long-term survivor after allogeneic bone marrow transplantation, and one patient apparently obtained a spontaneous remission several months after chemotherapy.

Adolescent↗
PubMed1992

Hormonal treatment of cryptorchidism--hCG or GnRH--a multicentre study.

In a modified, double-blind controlled study, 163 prepubertal boys (aged 1.8-13.0 years) with bilateral and 94 (aged 1.5-13.1 years) with unilateral cryptorchidism were allocated to treatment with either human chorionic gonadotrophin (im), gonadotrophin releasing hormone (intranasally) or placebo (intranasally). In individuals with the bilateral condition treatment with human chorionic gonadotrophin resulted in complete descent of both testes in 23% of patients. Treatment with human chorionic gonadotrophin in unilateral cryptorchidism resulted in complete descent in 19% of patients; all results were significantly better than those obtained with gonadotrophin releasing hormone or placebo. Linear and logistic regression analysis of the results obtained by treatment of bilateral disease showed that all treatments were more successful the younger the age of the boys. The data indicated that bilateral and unilateral cryptorchidism respond differently to hormonal treatment. We suggest that human chorionic gonadotrophin should be the first choice of treatment for prepubertal boys older than one year.

Administration, Intranasal↗
PubMed1991

[2 brothers with hereditary male pseudohermaphroditism (Reifenstein's syndrome)].

Reifenstein's syndrome is a rare hereditary disorder with partial androgen insensitivity. Two brothers are reported in whom the diagnosis not was established until the ages of 10 and 12 years. Each of them had a small phallos, hypospadias, perineal urethra with a bifid scrotum and cryptorchidism. Several surgical procedures have been performed. At present, the older boy is 14 8/12 years of age and in puberty with significant gynecomastia. For clinical and genetic reasons, diagnosis early in childhood is of great significance.

Adolescent↗
PubMed1989

Atrophic, autoimmune thyroiditis in infancy. A case report.

Autoimmune thyroiditis in infancy is a very rare condition. Only 1 case has been reported previously. In the present patient an acquired primary hypothyroidism with high titers of thyroid microsomal antibodies was diagnosed at the age of 7 months. The patient died at 9 months of age in a sepsis-like condition. Autopsy revealed an atrophic thyroiditis. The more severe and complex clinical picture of autoimmune thyroiditis in infancy compared to that later in childhood is discussed.

Atrophy↗
PubMed1988

Treatment of cryptorchidism with human chorionic gonadotropin or gonadotropin releasing hormone. A double-blind controlled study of 243 boys.

We have conducted a modified double-blind study on the effect of human chorionic gonadotropin (hCG), gonadotropin releasing hormone (GnRH) and placebo on bilateral and unilateral maldescended testes. One hundred and fifty-five boys with bilateral and 88 boys with unilateral cryptorchidism fulfilled the inclusion criteria and completed the treatment protocol. The boys were between 1 and 13 years of age. hCG was administered as intramuscular injections twice weekly for 3 weeks. GnRH and placebo were given intranasally. hCG was superior to GnRH and placebo in the treatment of bilateral maldescended testes (p = 0.0009). Both testes descended in 25% of the boys following treatment with hCG, and improvement in the position of the testes was obtained in a further 25% of the cases. hCG administration resulted in complete testicular descent in 14% of boys with unilateral cryptorchidism compared with 3 and 0% after placebo and GnRH, respectively (p = 0.07). The testis had moved to a more distal position in 46% of the boys treated with hCG. There was no significant difference between the treatment groups with regard to age or initial position of the testes. We conclude that a success rate of 25% justifies the use of hCG in the treatment of maldescended testes, whereas the study did not support a general use of GnRH administered intranasally.

Administration, Intranasal↗
PubMed1987

Adrenocortical insufficiency associated with Epstein-Barr virus infection in a patient with the Wiskott-Aldrich syndrome.

A 10-year-old boy with the Wiskott-Aldrich syndrome developed adrenocortical insufficiency including typical clinical findings, low s-Na, high s-K, high p-ACTH (640 ng/l), low p-aldosterone (33-39 pmol/l), high p-renin (2300-4200 mIU/l) as well as an abnormal response to an ACTH-stimulation test. The adrenocortical insufficiency developed concomitantly with the occurrence of infectious mononucleosis diagnosed clinically and serologically. Adrenalitis caused by Epstein-Barr virus is suggested as the causative factor.

Adolescent↗
PubMed1986

Fatal familial cholestatic syndrome in Greenland Eskimo children.

A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clinical features. Eight had died between the ages of six weeks and three years due to bleeding or infections. Hyperbilirubinaemia, profound hypoprothrombinaemia, thrombocytosis and elevated alkaline phosphatase levels were evident. Serum calcium, phosphate and parathyroid hormone levels indicated a secondary hyperparathyroidism. Hepatic fibrosis developed with increasing age. Follow-up of the surviving patients was 4 to 30 months. The aetiology of the disease is unknown. The syndrome has some features in common with previously described patients with familial intrahepatic cholestasis. No specific treatment is available. Genetic counselling is essential.

Celiac Disease↗
PubMed1985

Urinary cyclic AMP in spot urine of healthy children.

We present reference values for the excretion of cAMP in spot urine collected between 09.00 and 12.00 hours in 143 healthy children aged 2-200 months. The excretion of cAMP was creatinine-corrected and expressed as a substance concentration ratio (UcAMP/crea)U due to a positive significant correlation between the excretion of cAMP and creatinine (r = 0.68, p less than 0.001). The mean value (95% significance limits) for (UcAMP/crea)U was 748 mumol/mol (254-2206 mumol/mol). A logarithmic transformation of the ratio was used, since preliminary analysis showed uneven distribution; when the logarithmic transformation was used, the data appeared evenly distributed. There was no significant difference between the results for girls and boys. The value of lg(UcAMP/crea)U was related to the age or body surface area with decreasing values at higher age or body surface area. (r = -0.55 and r = -0.57, p less than 0.001). Spot urine for measurement of urinary cAMP instead of a 24 h collection appears preferable due to the practicability of the test in children.

Adolescent↗
PubMed1983

Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia.

Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. Following a partial parathyroidectomy at the age of 12 months, the clinical condition improved. In her sister, mother and three other maternal relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently demonstrated. All were clinically healthy in spite of increased total and ionized serum calcium, normal serum parathyroid hormone concentration, low urinary calcium excretion and normal renal excretion of cyclic AMP. Similar findings appeared in our patient after parathyroidectomy. An autosomal dominant inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH may give birth to healthy children with FHH as well as to infants with prim. HPT associated with FHH.

Adolescent↗
PubMed1983

The renin-aldosterone system in nephrogenic diabetes insipidus and the influence of hydrochlorothiazide and indomethacin.

Three generations of a family with nephrogenic diabetes insipidus were studied. Treatment of a male infant patient with hydrochlorothiazide normalized the serum sodium concentration and improved the clinical condition, but did not influence the polyuria. Although indomethacin alone was without long-term effect, combined therapy with hydrochlorothiazide and indomethacin regulated serum sodium better than hydrochlorothiazide alone. The renin-aldosterone system was not activated in healthy carriers or patients with nephrogenic diabetes insipidus neither in infancy during severe hypernatremic dehydration nor in adult patients.

Adolescent↗