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Biomedical subjects

F Brandrup

Publications and source records attributed to F Brandrup.

At least 37 records · Page 2Linked to original sources
PubMed1999

Fetal antigen 1, a member of the epidermal growth factor superfamily, in neurofibromas and serum from patients with neurofibromatosis type 1.

Fetal antigen 1 (FA1) is a 26-32 kDa glycoprotein containing six epidermal growth factor-like repeats closely related to the delta/notch/serrate proteins in Drosophila. FA1 has been shown to be involved in cell differentiation in a juxtacrine/paracrine manner. As neurofibromatosis type 1 (NF-1), also called von Recklinghausen disease, involves aberrant growth of tissues derived from the neural crest, the expression of FA1 was examined in neurofibroma skin biopsies and serum from patients with NF-1. FA1 was found in the spindle cells of all (n = 10) skin tumour specimens from adult NF-1 patients, whereas normal dermis was FA1 negative. In adults, the serum FA1 levels were significantly higher in NF-1 patients (n = 13) than in normal healthy controls (n = 177) (P = 0.037). In the group of children with NF-1 (n = 9), significantly higher serum FA1 levels were observed in those known to have complications with cerebral or spinal involvement (n = 4) (P = 0.014). The presence of FA1 in neurofibroma specimens and the elevated serum levels in patients with NF-1 suggests that FA1 may be involved in the pathogenesis of NF-1, perhaps acting as a growth promoting factor.

Adolescent↗
PubMed1999

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin diseases caused by mutations in either the keratin 5 (K5) or the keratin 14 (K14) genes and characterized by development of intraepidermal skin blisters. The three major subtypes of EBS are Weber-Cockayne, Koebner, and Dowling-Meara, of which the Dowling-Meara form is the most severe. We have investigated five large Danish families with EBS and two sporadic patients with the Dowling-Meara form of EBS. In the sporadic Dowling-Meara EBS patients, a novel K14 mutation (N123S) and a previously published K5 mutation (N176S) were identified, respectively. A novel K14 mutation (K116N) was found in three seemingly unrelated families, whereas another family harbored a different novel K14 mutation (L143P). The last family harbored a novel K5 mutation (L325P). The identified mutations were not present in more than 100 normal chromosomes. Six polymorphisms were identified in the K14 gene and their frequencies were determined in normal controls. These polymorphisms were used to show that the K14 K116N mutation was located in chromosomes with the same haplotype in all three families, suggesting a common ancestor. We observed a strict genotype-phenotype correlation in the investigated patients as the same mutation always resulted in a similar phenotype in all individuals with the mutation, but our results also show that it is not possible to predict the EBS phenotype merely by the location (i.e., head, rod, or linker domains) of a mutation. The nature of the amino acid substitution must also be taken into account.

Denmark↗
PubMed1999

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

BACKGROUND: White sponge naevus (WSN) is a rare autosomal dominant condition which is characterised by benign, white spongy plaques (oral leukokeratoses) affecting non-cornifying, wet mucosa. WSN shares several ultrastructural characteristics (eg, epithelial thickening, acanthosis, keratin filament aggregation) with a number of epithelial disorders caused by mutations in keratin genes and to-date two mutations, one in each of the mucosal specific keratins, K4 and K13, have been identified as the molecular basis of the disorder. OBJECTIVES: To identify the molecular basis of WSN in two families with a history of the disease. RESULTS: Two novel mutations were identified in helix initiation motif of K13. A T-to-C transition was found in the affected members of one family which is predicted to change leucine115 to proline. In the second family, a similar T-to-C transition was found in codon 108 which is predicted to change methionine to threonine in the protein sequence. These changes were not found in 50 unrelated, unaffected individuals. CONCLUSIONS: The mutations in the helix initiation motif of K13 are the cause of WSN in these families. These cases confirm mutations in the mucosal specific keratins as a significant cause of the disorder.

Adolescent↗
PubMed1997

[Atopic dermatitis].

Nowadays about 15% of a birth cohort develops atopic dermatitis of varying severity, while only about 3% were affected in the sixties. The pathogenesis of the disease is multifactorial, based on genetic (polygenic inheritance) and environmental factors, the latter presumably accounting for the rising incidence. Several genes of importance for the immune pathogenesis of atopic diseases, including atopic dermatitis, have been identified. Exogenous factors, for instance air humidity and colonization of the skin with Staphylococcus aureus and Pityrosporum ovale are also important in the pathogenesis. Specific allergies, for instance dust mite allergy and food allergy, may be contributory causes. Treatment is directed against the dry skin, the eczematous reaction, skin infections and potential, specific allergies. Information given to patients and parents through "eczema schools" might be an important part of therapy with focus on atopic diseases, treatment strategy and prevention.

Child, Preschool↗
PubMed1997

Oral terbinafine in toenail dermatophytosis. A double-blind, placebo-controlled multicenter study with 12 months' follow-up.

The treatment of onychomycosis has previously often been protracted and unsuccessful. Terbinafine has been shown to be effective in short-term regimens. In this double-blind, placebo-controlled study, 148 patients with toenail dermatophytosis were randomized to treatment with either 250 mg terbinafine daily or placebo for 3 months. An additional treatment was given for 3 months to patients whose infection had not responded. The patients were followed clinically and mycologically through 12 months. After 3 months 82% of the terbinafine-treated group, versus 5% of the placebo group, showed significant improvement, i.e. negative culture and growth of unaffected nail more than 2 mm (p = < 0.0001). After 12 months clinical and mycological cure was seen in 40% of the patients treated with terbinafine for 3 or 6 months, while 67-81% were clinically cured, but with positive microscopy. Side-effects occurred in 13.5% of the terbinafine group, versus 5.4% of the placebo group, and were mild. 250 mg terbinafine daily for 3 months was significantly more effective than placebo. The efficacy did not appear to improve with additional treatment for 3 months.

Administration, Oral↗
PubMed1996

Flow-cytometric investigation of epidermal cell characteristics in monogenic disorders of keratinization and their modulation by topical calcipotriol treatment.

A flow-cytometric study was performed in monogenic disorders of keratinization, to assess DNA distribution as well as the expression of keratins and involucrin. In addition, the changes in expression of these markers under influence of calcipotriol treatment were investigated. Proliferation, measured by the percentage of epidermal cells in SG2M-phase of the cell cycle, was increased in Darier's disease, lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, whereas normal proliferation was found in autosomal dominant ichthyosis vulgaris, X-linked recessive ichthyosis, keratosis pilaris, ichthyosis bullosa of Siemens and the Sjögren-Larsson syndrome. Keratin 6 was enhanced in erythrodermic lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, showing also reduction of keratin 10. Involucrin was only slightly reduced in erythrodermic lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, compared to the pronounced reduction in all other skin disorders studied. Calcipotriol was found to enhance differentiation in Darier's disease, erythrodermic lamellar ichthyosis, and congenital bullous ichthyotic erythroderma of Brocq. Only Darier's disease did not show clinical improvement. In conclusion, flow cytometry provides a useful method for quantification of epidermal cell characteristics in monogenic disorders of keratinization. Further studies need to be performed to establish its usefulness as a diagnostic and prognostic tool.

Administration, Topical↗
PubMed1993

[Trichothiodystrophy. Hair examination as a diagnostic tool].

Trichothiodystrophy is a neuroectodermal syndrome with features of a specific hair dysplasia associated with disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content. Polarizing microscopy shows alternating dark and light bands with trichoscisis and absent or defective cuticle. Patients with trichothiodystrophy have short, sparse, dry and easily broken hair. Growth retardation and mental retardation are almost obligatory findings. The skin and the nails are very often affected; other neuroectodermal disorders are associated, but none is a constant feature. The disease is transmitted as an autosomal recessive trait.

Child↗
PubMed1993

Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis.

To develop an experimental model for somatic gene therapy we have tried to correct the steroid sulfatase (STS) deficiency in tissue-cultured primary epidermal keratinocytes from patients suffering from recessive X-linked ichthyosis. An efficient Epstein-Barr virus-based vector was constructed, in which full-length steroid sulfatase cDNA is located between an SV40 early promotor and processing signals. After STS gene transfer into cultured basal cells from ichthyotic skin, the cells produce large amounts of enzymatically active steroid sulfatase protein. The subpopulation of transfected cells can be made to produce approximately 100 times more STS activity than normal keratinocytes. Keratinocytes from patients suffering from recessive X-linked ichthyosis display an abnormal phenotype when developing a multilayered tissue in culture: Initially an extensive burst of keratinization is observed, followed by rapid, premature shedding and degradation of most suprabasal cell layers, leaving a culture with hyperproliferative relatively immature keratinocytes. Transfection of these immature ichthyotic cells with the functional STS construct led to an increase in the amount of retained cell material in the culture medium, indicating an increased cell maturation. It is possible to genetically label individual transfected epidermal cells with a reporter gene. Cotransfection experiments with STS and reporter gene vectors show that the cohort of transfected cells had a tendency to develop less rapidly since they became overrepresented in the smaller size classes at the same time the total population was somewhat shifted toward higher cell sizes. We interpret these results as an indication that restoration of the enzymatic activity induces a more normal maturation of the transfected keratinocytes.

Arylsulfatases↗
PubMed1992

[HIV testing and HIV surveillance of a venereological clientele in Denmark].

The object of this investigation was to evaluate the suitability of unlinked anonymous HIV screening of persons visiting one of eight out of the nine Danish clinics for venereal diseases in the national HIV surveillance. Data were collected during the period July 1, 1990-March 31, 1991 and included: gender, sexual orientation, history of intravenous drug use (IVDU), syphilis testing and HIV testing. A total of 7,455 persons participated of whom 75% were tested for HIV antibodies. The HIV test activity was significantly higher among male IVDUs than homo/bisexuals, and higher among female IVDUs than heterosexuals. The overall HIV prevalence among tested individuals was 0.6%, ranging from 0.1% among heterosexual women to 5.3% among female IVDUs. A total of 81% were tested for syphilis with an overall HIV prevalence of at least 1.1%, ranging from 0.2% among heterosexuals to 9.3% among homo/bisexual men. Since the non-participation is great and the venereological clientele is very heterogeneous, using blood taken for syphilis serology from this group for unlinked anonymous HIV screening, would not be particularly important as a supplement to the Danish HIV surveillance.

Denmark↗
PubMed1992

[Cholesterol microemboli].

Cholesterol microemboli are caused by cholesterol crystals released from arteriosclerotic plaques in the major arteries. The clinical picture is illustrated by two case histories with symptoms in the form of myalgia, livedo reticularis and gangrene. The diagnoses were verified by demonstration of cholesterol crystals in the affected tissue. The pathogenesis is illustrated and, on the basis of the literature, it is emphasized that cholesterol microemboli are probably often overlooked clinically and that an increasing incidence must be anticipated on account of the increasing frequency of invasive procedures and treatments of arteriosclerotic vascular disease.

Aged↗
PubMed1991

Cutis laxa: autosomal dominant inheritance in five generations.

Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.

Adolescent↗
PubMed1991

Immunohistochemical studies on the localization of fetal antigen 2 (FA2), laminin, and collagen type 4 in basal cell carcinoma.

The localization of fetal antigen 2 (FA2), a recently described basement membrane (BM) associated antigen, was studied by immunohistochemical techniques in 21 basal cell carcinomas (BCC). In both superficial and infiltrating BCC, FA2 was located in a broad diffuse band around the tumor elements and in close contact with the BM. Compared to normal skin, a more extensive distribution of FA2 was seen in BCC. In the infiltrating BCC, FA2 staining was also present in the interstitial stroma between the tumor islands. FA2 was absent in areas with inflammatory cell infiltrates and elastoid degeneration. Epithelial and tumor cells were FA2 negative. The distribution of FA2 was clearly different from that of laminin and collagen type 4. Collagen type 4 and laminin were present as a continuous linear band corresponding to the BM surrounding the tumors. The close contact to the BM and the increased content of FA2 in the reactive stroma around BCC suggest that FA2 is involved in the matrix and/or BM changes taking place during tumor growth and invasion.

Antigens↗