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Biomedical subjects

J Kunze

Publications and source records attributed to J Kunze.

At least 55 records · Page 3Linked to original sources
PubMed1995

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.

We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal-recessive inheritance.

Albinism↗
PubMed1995

Titanium distributions in zone melted materials measured by SIMS.

Using a zone melting apparatus the influence of the different solidification processes on the Ti distribution has been investigated in model alloys and a technical steel. The concentration profiles after the conventional zone melting process have been measured using secondary ion mass spectrometry and were used for the determination of the distribution coefficients of Ti in pure Fe-Ti- and Fe-C-Ti-alloys. The registration of lateral elemental maps helps to identify and to eliminate measuring artefacts and allows the investigation of dendritic solidification structures.

Journal Article↗
PubMed1994

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.

Amino Acid Sequence↗
PubMed1994

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the exon-intron structure of the homeobox-containing part of PAX3, complementing earlier descriptions of the 5' part of the gene. Mutations in PAX3 have been described in patients with Type 1 Waardenburg syndrome, who have hearing loss and pigmentary abnormalities, while Splotch mice have mutations in the homologous mouse Pax-3 gene. We describe a series of patients who have previously unidentified PAX3 mutations. These include a chromosomal deletion, a splice-site mutation and an amino acid substitution which closely correspond to the molecular changes seen in the Splotch-retarded, Splotch and Splotch-delayed mouse mutants respectively. These mutations confirm that Waardenburg syndrome is produced by gene dosage effects and show that the phenotypic differences between Splotch mice and humans with Waardenburg syndrome are caused by differences in genetic background rather than different primary effects of the mutations.

Animals↗
PubMed1991

Acquired epidermolysis bullosa with the clinical feature of Brunsting-Perry cicatricial bullous pemphigoid.

A 56-year-old woman with the typical clinical feature of cicatricial bullous pemphigoid of the Brunsting-Perry type was studied. Histologic examination of a lesion skin biopsy specimen demonstrated a subepidermal blister. Direct immunofluorescence microscopy revealed linear deposits of IgG, IgM, and C3 located on both the roof and the floor of the blister. Immunofluorescence antigen mapping using cryostat sections of a spontaneous blister and antisera against defined basement membrane components localized the bullous pemphigoid antigen and type IV collagen in the roof of the blister. This dermal type of blister formation was confirmed by electron microscopy, which showed the cleavage level below the lamina densa. In direct immunoelectron microscopy, granular deposits of C3 and IgG were found attached to and just beneath the lamina densa in a pattern identical to the distribution of anchoring fibrils. These findings are diagnostic of acquired epidermolysis bullosa, a blistering disease that has much more clinical heterogeneity than previously suggested.

Complement C3↗
PubMed1991

[Allergic contact dermatitis due to prednicarbate].

Two female patients developed an allergic contact dermatitis after using Dermatop cream and -ointment for several weeks. Patch tests were positive with the reagent prednicarbate itself. No cross reactions to other glucocorticosteroids were observed. Type-IV-sensitization to glucocorticosteroids should be considered if chronic dermatitis does not improve, or even becomes worse, in spite of adequate therapy. With regard to possible cross reactions or multiple sensitization, epicutaneous tests with other glucocorticosteroids are necessary.

Adolescent↗
PubMed1990

[Multiple trichoepitheliomas].

We report on a 27-year-old male patient suffering from multiple trichoepitheliomas, which first appeared on his face at the age of 15 and later spread to his upper extremities and back. Multiple trichoepitheliomas are benign tumors of the skin appendages with autosomally dominant heredity. Clinically, these lesions have to be differentiated from other adnexal tumors, adenoma sebaceum, as well as basal cell nevus syndrome (Gorlin-Goltz's disease).

Adult↗
PubMed1990

[L-tryptophan-induced eosinophilia-myalgia syndrome with features of diffuse fasciitis with eosinophilia].

Two female patients developed localized scleroderma on the trunk and the thighs after oral ingestion of L-tryptophan for some years. Both patients reported acute progressive myalgia and weakness of the proximal parts of the extremities. On laboratory evaluation, the leucocyte count was approximately 20,000/mm3, with 38% blood eosinophils in one patient and 53% in the other. The ESR was slightly elevated; electrophoresis and muscle enzymes were normal. Skin and muscle biopsies revealed characteristic features of diffuse fasciitis with eosinophilia. High-dose glucocorticoid therapy resulted in a rapid normalization of the ESR and blood eosinophilia, whereas the scleroderma showed little improvement. The diffuse edema observed in one patient receded within a few days. A correlation between oral ingestion of L-tryptophan and the eosinophilia-myalgia syndrome has been reported recently, and the present case reports must be discussed in the light of this observation. Both patients developed a tryptophan-induced scleroderma-like illness resembling diffuse fasciitis with eosinophilia (Shulman's syndrome).

Eosinophilia↗
PubMed1989

[Public education in recognizing melanoma].

We report on the first German "melanoma screening week" (Offenbach Melanoma Week). According to the model of the Melanoma/Skin Cancer Detection Week in Dayton/Ohio, the population of Offenbach (100.000 inhabitants) were informed about cutaneous malignant melanoma and its early recognition by means of public media, in particular the local press; the people were asked to participate in a voluntary screening including examination of the entire skin. These examinations were offered in 5 local dermatological practices on 5 working days during the European Week Against Cancer in May, 1988, under the auspices of the Hessian Cancer Society. With 2 to 4 dermatologists daily volunteering, a total of 697 persons were screened. Their average age was 48 years. An illustrated brochure ("Red Light for Black Cancer") with instructions for self-examination of the skin served as a consultation basis and memory aid. The screening week was concluded by a 3-hour's question time ("The citizen asks - the expert answers"). The most surprising result of this campaign was the fact that - contrary to earlier experience - 76% of the persons seeking advice were well aware of "black" cancer. The sole new melanoma detected was an extended lentigo maligna melanoma on the right cheek, which had not been noted during a prophylactic medical examination (!) 2 weeks before. The high public awareness of melanoma and the extremely low percentage of undetected melanomas in Hesse are most probably the result of the 8-year's educational campaign against "black" cancer.

Germany, West↗
PubMed1989

[Exogenous causes of disordered embryonal morphogenesis].

Recent advances in exogenous factors known to cause embryopathies are reviewed. Among the non-infectious agents alcohol is the most important, followed by a combination of anticonvulsant drugs, valproic acid, retinoic acid, lithium, coumarin derivates, methyl mercury, aminopterin and methotrexate, cocaine and amniogenic bands. Rubella embryopathy is well known. Varicella zoster and herpes simplex type II viruses are now also known to be teratogenic in some cases. Erythema infectiosum has recently been detected as a cause of embryonic death. Diabetic women and women with phenylketonuria must be carefully examined before and during pregnancy. There does not seem to be a world trend towards increased frequency of genetically and non genetically conditioned malformations.

Abnormalities, Drug-Induced↗
PubMed1988

A new chromosomal instability disorder confirmed by complementation studies.

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

Ataxia Telangiectasia↗