Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Autosomal recessive congenital ichthyosis (ARCI) comprises a group of severe disorders of keratinization, characterized by variable erythema and skin scaling. It is known for its high degree of genetic and clinical heterogeneity. Mutations in the gene for keratinocyte transglutaminase (TGM1) on chromosome 14q11 were shown in patients with ARCI, and a second locus was described, on chromosome 2q, in families from northern Africa. Three other loci for ARCI, on chromosomes 3p and 19p, were identified recently. We have embarked on a whole-genome scan for further loci for ARCI in four families from Germany, Turkey, and the United Arab Emirates. A novel ARCI locus was identified on chromosome 17p, between the markers at D17S938 and D17S1856, with a maximum LOD score of 3.38, at maximum recombination fraction 0.00, at D17S945, under heterogeneity. This locus is linked to the disease in the Turkish family and in the German family. Extensive genealogical studies revealed that the parents of the German patients with ARCI were eighth cousins. By homozygosity mapping, the localization of the gene could then be refined to the 8.4-cM interval between D17S938 and D17S1879. It could be shown, however, that ARCI in the two Arab families is linked neither to the new locus on chromosome 17p nor to one of the five loci known previously. Our findings give evidence of further genetic heterogeneity that is not linked to distinctive phenotypes

De las catacumbas a los últimos confines: violencia, sentido y representación en los periplos del martirio

En este trabajo propongo un análisis transversal de las figuras del mártir y del martirio. Recurriendo a la noción de mediación, en la primera parte analizo el rol protagónico de las representaciones del martirio en las prácticas de la memoria durante la segunda mitad del siglo XVI. Analizo algunas de las condiciones que contribuyeron a la emergencia de una "cultura del martirio" y el rol de las mediaciones en tal surgimiento. En la segunda parte, estudio la forma en que el (re)descubrimiento de las catacumbas romanas, abrió un campo de producción de sentido en torno a la figura del martirio. En la tercera parte, centrándome en la Compañía de Jesús, analizo algunas mediaciones a través de las cuáles las figuras del martirio transgredieron las fronteras de iglesias y conventos para proyectarse a los últimos confines en un mundo en plena expansión.Neste artigo proponho uma análise transversal das figuras do mártir e do martírio. Usando a noção de mediação, na primeira parte eu tento analisar o papel de liderança de representações de martírio em práticas de memória durante a segunda metade do século XVI. Eu analiso algumas das condições que contribuíram para o surgimento de uma "cultura do martírio" e o papel da mediação nesta emergência. Na segunda parte, eu estudo como a (re) descoberta das catacumbas romanas abriu um campo de produção de significados em torno da figura do martírio. Na terceira parte, com foco na Companhia de Jesus, analiso algumas mediações pelas quais as representações do martírio transgrediram as fronteiras de igrejas e conventos para se projetar nas fronteiras de um mundo em plena expansão mundial.This paper proposes a cross-sectional analysis of martyr and martyrdom. Through the notion of mediation, in the first part I analyze the leading role of representations of martyrdom in memory practices during the second half of the sixteenth century. I analyze some of the conditions that contributed to the emergence of a "martyrdom's culture" and the role of mediation in such emergence. The second part studies how the (re)discovery of the Roman catacombs encouraged the production of meanings around the figure of martyrdom. In the third part, focusing on the Society of Jesus, I analyze a few instances of mediation through which the figures of martyrdom transgressed the boundaries of churches and convents to project themselves to the last frontiers of a world in full expansion.Fil: Salamanca Villamizar, Carlos Arturo. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

M.P. is supported by a Fellowship from the Deutsche Forschungsgemeinschaft. This work was supported in part by a generous donation of Israel and Ruthi Ram (E.S.) and from a British Heart Foundation Programme grant (D.P.K.)

Todas as criaturas do mundo: a arte dos mapas como elemento de orientação geográfica

Vague in the outlines and abounding in figures of real or fabulous creatures, the iconography of medieval maps played a significant role in helping users to recognize lands that were virtually unknown to Christendom. In a world with no reliable latitudes and longitudes, the land contours, inhabitants and even certain elements of fauna and flora could become variables of utmost importance for geographic orientation. Notwithstanding the higher levels of precision achieved in their efforts to represent geographic space, the considerable advancements made in latitude determination, and their continuous pursuit of a practical method for the establishment of longitudes, the cartographers of the Age of Discoveries still went to the trouble of depicting notable elements - whether real or imaginary - to help travelers get their bearings around different regions of the globe. As the presence of Europeans continued to expand and an authentic scientific revolution took place in the 17th century, the lengthy notes and eye¿catching representations of nature and local inhabitants soon lost their utility as points of reference on 17th-century maps to become mere accessories of aesthetic and commercial value. The advent of the 18th century consolidated, once and for all, the transformation of such illustrations into essentially decorative elements with no other relevant role to play in mapmaking. In addition to decreasing in number, the figures became more stylized and moved to the borders of the maps as ornamental motifs. Although they often maintained some sort of relation with the geographic space depicted on the map, the motifs chosen could also constitute a rather independent element. In fact, allegories, compositions with a variety of mythological figures, and historical representations were often used to underscore the power of certain political agents

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, if so, whether it is associated with a specific genetic mutation. A 40 year old Egyptian man with pulmonary disease and his symptom free 35 year old brother both presented with mucocutaneous lesions characteristic of DC. In the older brother chest imaging revealed generalised intralobular interstitial thickening and honeycombing. Pulmonary function tests showed a restrictive pattern. Open lung biopsy specimens of lung tissue showed various degrees of fibrosis consistent with usual interstitial pneumonia of chronic idiopathic pulmonary fibrosis. The younger brother was free of pulmonary lesions. Both had a novel missense mutation 5C→T in exon 1 of the DKC1 gene. It is concluded that pulmonary disease in DC may be underestimated, possibly because most patients die at an early age of bone marrow failure. No relationship between genotype and phenotype could be established in the patients studied. The genetic diagnosis of DC is now available, which may enable it to be diagnosed in patients with restrictive pulmonary disease and minimal cutaneous signs.


Treatment Outcome of Acne Vulgaris with Oral Isotretinoin

Objective: To determine the clinical efficacy of oral isotretinoin in the treatment of severe acne and assess its effect on total serum cholesterol, triglycerides, HDL-cholesterol and Low-Density Lipoprotein-cholesterol (LDL-cholesterol)