Epidermolytic palmoplantar keratoderma (EPPK) (Vörner-Unna-Thost) is an autosomal dominantly inherited skin disease of unknown etiology characterized by diffuse severe hyperkeratosis of the palms and soles and, histologically, by cellular degeneration. We have mapped a gene for EPPK to chromosome 17q11-q23, with linkage analysis using microsatellite DNA-polymorphisms, in a single large family of 7 generations. A maximum lod score of z = 6.66 was obtained with the probe D17S579 at a recombination fraction of theta = 0.00. This locus maps to the same region as the type I (acidic) keratin gene cluster. Keratins, members of the intermediate filament family, the major proteins of the cytoskeleton in epidermis, are differentially expressed in a tissue-specific manner. One acidic keratin, keratin 9 (KRT9), is expressed only in the terminally differentiated epidermis of palms and soles. The KRT9 gene has not yet been cloned; however, since the genes for most acidic keratins are clustered, it is highly probable that it too will map to this region. We therefore propose KRT9 as the candidate gene for EPPK.

Chromosomes, Human, Pair 17↗

PubMedDate not supplied

Localisation of a Fanconi anaemia gene to chromosome 9p.

Using homozygosity mapping in a large consanguineous family, we have localised to chromosome 9p a further gene for the autosomal recessive, genetically heterogeneous disease Fanconi anaemia (FA). This is the fourth of at least eight FA genes to be localised to a discrete chromosomal region. Previously localised genes are FAA, FAC and FAD. By analysis of assigned families we show that the gene localised to chromosome 9p is FAF, FAG or FAH, or a new FA gene, and refine the localisation to the 21 cM region between markers D9S1678 and D9S175.

Chromosome Mapping↗

PubMedDate not supplied

Clinical effectiveness of laser fluorescence, visual inspection and radiography in the detection of occlusal caries.

The aim of this in vivo study was to compare a laser fluorescence (LF) device with Ekstrand's visual scoring system and radiographic assessment for detection of occlusal caries. Thirty-eight adults aged 19-35 years participated in the study; a total of 57 third molars with macroscopically intact occlusal surfaces were selected. Two examiners assessed 110 sites by visual inspection (VI), bitewing radiography (BW) and LF. Teeth were then extracted and caries extent assessed by histology. The detection methods were compared by means of sensitivity, specificity, inter-examiner reproducibility (kappa statistics) and area under the ROC curve. VI and LF had similar (p > 0.05) and superior sensitivities than BW (p < 0.05). VI and BW showed similar specificities, which was superior to LF. The inter-examiner reproducibility was good for VI and BW and moderate for LF. The area under ROC curves showed that VI was better than LF. It was concluded that Ekstrand's visual scoring system is the most valid method for caries diagnosis. LF should be considered an adjunct to caries diagnosis.

Adult↗

PubMedDate not supplied

Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.

Analysis of haplotypes of three intragenic, highly polymorphic microsatellite markers (IVS8CA, IVS17BTA, IVS17BCA) of the CFTR gene was performed on a sample of 96 CF chromosomes of Polish origin. Twenty different haplotypes were detected in delta F508 chromosomes. Of these, four haplotypes (23-31-13; 23-32-13; 17-31-13; 17-32-13) represent 67.1% of the overall pool of delta F508 chromosomes. Distribution of these haplotypes, together with frequencies of the delta F508 mutation, are intermediate between Northern- and Southern-European populations and correlate with established gradients.

Cystic Fibrosis↗

PubMedDate not supplied

Fine needle aspiration biopsy in hepatic Echinococcus multilocularis.

OBJECTIVE: To determine the fine needle aspiration biopsy (FNAB) findings in hepatic Echinococcus multilocularis. STUDY DESIGN: FNAB and tru-cut liver needle biopsy were applied in 14 hepatic E multilocularis cases. Cytologic smears were stained with May-Grünwald-Giemsa and periodic acid-Schiff (PAS) stain. Tissue sections were stained with hematoxylin-eosin (HE) and PAS stain. RESULTS: In tissue sections, homogeneous, thin, cystic structures of various dimensions strongly stained with PAS. Mucoid material was stained with PAS in the cystic structures. Wide, coagulative necrosis was observed in all cases. In some cases there were foreign body-type giant cells at the periphery of the lesion. In all the cytologic smears there were an intense necrotic ground, PAS-positive hyaline cuticular structures and mucoid globules; in some cases there were foreign body-type giant cells. CONCLUSION: The above cytologic characteristics are basic diagnostic criteria for FNAB of E multilocularis.

Biopsy↗

PubMedDate not supplied

A comparative chemical study of Maytenus ilicifolia mart. reiss and Maytenus robusta reiss (Celastraceae).

This work describes a comparative qualitative and quantitative chemical analysis of Maytenus ilicifolia and Maytenus robusta (Celastraceae), extracts by high-resolution gas chromatography (HRGC), using external standards as the method of determination and thin layer chromatographic (TLC). The results show that both plants have a similar chromatographic profile. However, M. robusta exhibited about three times higher concentration of triterpene friedelin than M. ilicifolia.

Brazil↗

PubMedDate not supplied

The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism.

PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid control subjects. In the cryptorchid group, 7 had bilateral cryptorchidism and 6 had patent processus vaginalis in the contralateral side. To determine the number of CAG repeats, the DNA was amplified by polymerase chain reaction and sequenced. RESULTS: The mean CAG repeat length in the AR gene was 22.5 (range 16 to 28) in patients and 21.5 (range 17 to 26) in controls (non-significant). Patients with bilateral cryptorchidism had a mean length of 24.3 (range 21 to 26) and patients with unilateral cryptorchidism and patent processus vaginalis in the contra lateral side had a mean of 25.2 (range 21 to 28), which was statistically different from controls (p = 0.015 and p = 0.005 respectively). CONCLUSION: CAG repeat length of the AR gene does not seem to play a major role in patients with unilateral cryptorchidism. However, in patients with bilateral undescended testis, a less functional androgen receptor through a longer polyglutamine chain may have a role in its pathogenesis. In the same way, patients with unilateral cryptorchidism a contralateral patent processus vaginalis have longer CAG repeats that might be responsible for a slower testicular descent and incomplete closure of the processus vaginalis.

Adolescent↗