La bula Tuae dilectissime de Urbano II (J-L ✝5562)

The bull Tuae dilectissime of pope Urban II (1095) is one of the most important documents in the ecclesiastical history of Spain, having been used to support the claim of the monarchy to the right of universal patronage. Starting from a dark episode about the search and finding of the original of this document at the monastery of San Juan de la Peña at the time of king Philip V, a survey is made on the main moments of its use from Xll to XIX century. Finally, it is faced the problem of its authenticity officially questioned for the first time in 1742 by the pope Benedict XIV.[fr] La bulle Tuae dilectissime d'Urbain II (1095) c'est un des plus transcendents documents de l'histoire ecclésiastique de l'Espagne jusqu'au XVIIIème siècle, ayant servi pour appuyer la prétention du droit du patronat universel de la monarchie. À partir d'un obscur épisode sur sa recherche et trovaille dans le monastère de San Juan de la Peña aux temps de Philippe V, on remarque les moments les plus importants pendant lesquels elle a été utilisée dès XIIème au XIXème siècles. Enfin, on affronte le problème de leur authenticité, mise en question officiellement pour la première fois en 1742, par le pape Benoît XIV

El Arca de San Cugat. Notas hagiográficas y documentales

The silver coffer that was to keep Saint Cugat’s relics -nowadays conserved in the Diocese Museum of Barcelona but that comes from the monastery of Sant Cugat del Vallès-, is decorated with big storied reliefs. The latter represent scenes of the life and martyrdom of the Saint, in which his disciples Juliana and Semproniana, as it has commonly been interpreted, are also traditionaly portra­yed. We begin with the problem that implicates the representation of these fema­le Saints, with no literary foundation until the XVIIth century, in a coffer dating from the XIVth century. We analyze this rich object of medieval place from a dou­ble perspective: the hagiographic one, trying to determine as accurately as possi­ble the literary source of the represented scenes, and the documental one that includes unpublished notices about the date of its realization (1312), its authors (silver masters in Perpignan such as Arnau de Camprodon and Joan de Génova) and the vicissitudes that it suffered till the XIXth century and that changed funda­mentally its original aspect.Le coffre d’argent destiné à conserver les reliques de Sant Cugat, conservé actuellement au Musée Diocésain de Barcelone et qui provient du monastère de Sant Cugat del Vallès, est décoré de reliefs très travaillés qui représenrent des scè­nes de la vie et du martyre du saint, scènes dans lesquelles apparaissent aussi ses disciples Julienne et Semproniana, comme le rapporte l'interprétation tradition­nelle. En partant du problème qu'implique la représentation de ces saintes, sans aucune tradition littéraire jusqu'au XVIIeme siècle, dans un reliquaire du XIVeme siè­cle, on analyse ce précieux objet d'orfèvrerie médiévale, sous une double perspec­tive: hagiographique d'abord, en essayant de traiter avec précision la source litté­raire des scènes représentées, et documentaire ensuite, en apportant des données inédites sur la date de sa réalisation (1312), ses auteurs (les maîtres orfevres de Perpignan Arnau de Camprodón et Joan de Génova) et les vicissitudes qu'il souf­frit jusqu'au XIXeme siècle et qui alrérerènt considérablement son aspect initial

The Archive of the Crown of Aragon. Seven hundred years of history

The Arxiu de la Corona d’Aragó (Archive of the Crown of Aragon) was founded by King James II of Aragon in 1318 as a royal archive housed in his Barcelona palace, and it has existed continuously ever since then. This article presents its history over the course of these 700 years, with a special focus on the circumstances that led to its creation, and it explains its evolution within a broader historical context. This uninterrupted history of the Archive since its origins spans its evolution from an administrative archive at the exclusive service of the monarch to a historical archive open to research and a more general public today

L’Arxiu de la Corona d’Aragó. Set-cents anys d’història

L’Arxiu de la Corona d’Aragó va ser fundat en 1318 pel rei Jaume II d’Aragó com a arxiu reial situat en el seu palau de Barcelona, i ha tingut des de llavors una existència ininterrompuda fins a l’actualitat. Es presenta la seva història al llarg d’aquests set-cents anys, amb una atenció especial a les circumstàncies que van propiciar-ne la creació, explicant-ne l’evolució en un context històric més general. Aquesta evolució porta a l’Arxiu sense solució de continuïtat des dels seus orígens com a arxiu administratiu al servei exclusiu del monarca fins a l’arxiu històric obert a la recerca i a un públic més general de l’actualitat

Fabry disease : the many faces of a single disorder

In 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, separately described a disease characterized by skin lesions, known as angiokera-tomas. This issue contains two reports of Fabry disease (FD) patients presenting with proteinuric chronic kidney disease (CKD) but lacking angiokeratomas [1,2]. These cases illustrate the phenotypic heterogeneity of the disease in females [1] and FD variants [2],theroleof genetic diagnosis [1] and renal biopsy [2] and recent advances in pathophysiology [1]. FD is caused by deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X-chromosome GLA gene, leading to accumulation of neutral glycolipids and eventual tissue injury and organ dysfunction [3]. In classical FD males, α-GalA activity is absent or nearly absent and there is an early onset of acroparesthesias, angiokeratoma and hypohydrosis followed by life-threatening cardiac, central nervous system and kidney disease leading to end-stage renal disease (ESRD) at a mean age of 40 year

Genetic kidney diseases as an underrecognized cause of chronic kidney disease : the key role of international registry reports

Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10-15% of cases of kidney replacement therapy (KRT) in adults. Paediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown aetiology, which precludes correct treatment, follow-up and genetic counselling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: (i) adult nephrologists, in general, are not knowledgeable about IKDs; (ii) existence of atypical phenotypes; (iii) genetic testing is not universally available; (iv) family history is not always available or may be negative; (v) lack of knowledge of various genotype-phenotype relationships and (vi) conflicting interpretation of the pathogenicity of many sequence variants. Registries can contribute to visualize the burden of IKDs by regularly grouping all IKDs in their annual reports, as is done for glomerulonephritis or interstitial diseases, rather than reporting only cystic disease and hiding other IKDs under labels such as 'miscellaneous' or 'other'. Any effort to reduce the percentage of patients needing KRT with a diagnosis of 'nephropathy of unknown etiology' or an unspecific/incorrect diagnosis should be encouraged as a step towards precision nephrology. Genetic testing may be of value in this context but should not be used indiscriminately, but rather on the basis of a deep knowledge of IKDs

MYH9-related disease : it does exist, may be more frequent than you think and requires specific therapy

Altres ajuts: Sources of support: FIS/Fondos FEDER (REDinREN RD016/0009), Sociedad Española de Nefrología, FRIAT, Comunidad de Madrid en Biomedicina B2017/BMD-3686 CIFRA2-CM. Salary support: ISCIII Rio Hortega to M.V.P.-G.In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20 000. The literature abounds in misdiagnosed cases treated for idiopathic thrombocytopenic purpura with immune suppressants and even splenectomy. Additional manifestations include neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in different names for different manifestation combinations (MATINS, May-Hegglin anomaly, Fechtner, Epstein and Sebastian syndromes, and deafness AD 17). The penetrance and severity of kidney disease are very variable, which may obscure the autosomal dominant inheritance. A correct diagnosis will both preclude unnecessary and potentially dangerous therapeutic interventions and allow genetic counselling and adequate treatment. Morphological erythrocyte, granulocyte and platelet abnormalities may allow the future development of high-throughput screening techniques adapted to clinical peripheral blood flow cytometers

‘The forgotten sex’: gender disparities in kidney disease

No abstract available

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. Recently, NPHS1 mutations have also been identified in childhood-onset steroid-resistant nephrotic syndrome and milder courses of disease, but their role in adults with focal segmental glomerulosclerosis remains unknown. Here we developed an in silico scoring matrix to evaluate the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino-acid residue in orthologs, and defined domains, with the addition of contextual information. Mutation analysis was performed in 97 patients from 89 unrelated families, of which 52 presented with steroid-resistant nephrotic syndrome after 18 years of age. Compound heterozygous or homozygous NPHS1 mutations were identified in five familial and seven sporadic cases, including one patient 27 years old at onset of the disease. Substitutions were classified as ‘severe’ or ‘mild’ using this in silico approach. Our results suggest an earlier onset of the disease in patients with two ‘severe’ mutations compared to patients with at least one ‘mild’ mutation. The finding of mutations in a patient with adult-onset focal segmental glomerulosclerosis indicates that NPHS1 analysis could be considered in patients with later onset of the disease