Search

Background Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied. Objectives To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity. Methods We studied the clinical and histologic characteristics of cutaneous lesions in 49 patients with NF2 and analysed correlations with phenotype- and genotype-based severity scores. We collected information on the presence/absence of cutaneous lesions, location, age at onset, type of lesion, and histologic features. We also studied level of systemic involvement and genetic mutations involved. Results Forty-nine patients (31 women [63.3%] and 18 men [36.7%]) were analysed, and 33 (67.3%) had cutaneous lesions presumed to be schwannomas. According to their clinical form, they were distributed as follows: 24 patients (48%) had deep tumours, 21 (42%) had plaque-like lesions, and 3 (6%) had superficial tumours. Histologic examination from 27 lesions analysed out 23 patients showed classic schwannoma or hybrid schwannoma-neurofibroma features in the 8 deep tumours biopsied and plexiform schwannoma features in the 17 plaque-like lesions and the 2 superficial tumours analysed. Early onset (first 2 decades of life) was reported by all patients with plaques and superficial tumours. In our cohort, 100% of the patients with plaque-like lesions and superficial tumours with microscopic features of plexiform schwannoma were in the 2 groups with the most severe clinical phenotypes, and 82.6% of them were in the 3 most severe genotype-based classes. Conclusions and Relevance Cutaneous lesions, specially plexiform schwannomas, are common in NF2, and they usually appear at an early age providing useful diagnostic and prognostic information. These tumours are part of the spectrum of cutaneous manifestations in this disease. Although its diagnostic and prognostic value has been pointed out, there are few studies focussed on their analysis.

He trobat un nou acròstic a l'obra de Manili, un acròstic que no pot ser casual, que revela intencions programàtiques o de reflexió sobre la mateixa poesia, que en la composició segueix la tècnica dels acròstics arateus i, agafant paraules de J.M. Jacques, segueix intencions artístiques expressant, en aquest cas, la noció aigua, que, unida a la de la navegació, ambdues amb un referent en l'activitat poètica, ens permeten veure l'autor dels Astronomica com un seguidor de l'escola alexandrina, de Cal·límac en particular, en els seus principis i símbols, i com un important poeta subtil. There is a new acrostic in the work of Manilius, an acrostic that cannot be casual, that reveals programatic intentions or thought about poetry. In its composition it follows the technique of Aratean acrostics and, in Jacques' words, follows artistic intentions: it expresses the notion of water that, together with that of navigation, and both with a referent in poetic activity, allow us to see the author of Astronomica as a follower of the principles and symbols of the hellenistic school, particularly that of Callimachus. This also shows the poet in his importance and subtlety.

Obra ressenyada: CATUL; a cura d'Antoni Seva, Poemes. Barcelona: Quaderns Crema, 1999 ; GAI VALERI CATUL; versió de Jordi PARRAMON I BLASCO, Poesies completes. Barcelona: Edicions 62 Empúries, 1999.

Aquest article es limita a constatar l'existència de nous acròstics en l'obra de Manili. Es proposa un lligam entre el text i el fet de l'acròstic. This work shows new acrostics in the poem of Manilius.

1. El paper que tenen les ceramidases en diferents malalties humanes va guanyant interès. Tot i així, la recerca en aquest àmbit ha estat obstaculitzada per la manca d’inhibidors i substrats específics per les diferents formes d’aquests enzims. Per aquest motiu, el primer objectiu plantejat en aquesta tesi fou el descobriment de substrats i inhibidors específics de ceramidases amb activitat en cèl·lules intactes. 2. S’ha descrit que la Jaspina B presenta una activitat citotòxica que podria implicar mort cel·lular per metuosi. En aquest context, per a determinar l’abast d’aquesta activitat i entendre millor el seu mecanisme molecular, el segon objectiu proposat en aquesta tesi fou la determinació dels efectes cel·lulars de la Jaspina B i la via de senyalització implicada en la inducció de metuosi, utilitzant la línia cel·lular d’adenocarcinoma de pulmó A549 com a model.

Cutaneous polyarteritis nodosa (CPAN) is a comparatively rare form of vasculitis that affects small arteries and arterioles in the panniculus and dermo-subcutaneous junction. Limited information is available regarding its course in the European population. The aim of this study is to characterize the manifestations and prognostic markers of recurrence in CPAN.

IMPORTANCE: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing. OBJECTIVE: To determine the clinical utility of skin plaque identification and characterization in children for reaching an early diagnosis of patients with NF2 and to evaluate their molecular pathogenesis and their use in the genetic diagnostics of NF2. DESIGN, SETTING, AND PARTICIPANTS: Diagnostic test study by the histological and genetic characterization of skin plaques from patients with NF2. Patients were 7 individuals with NF2 or clinical suspicion of NF2 treated at the Spanish Reference Center on Phakomatoses. MAIN OUTCOMES AND MEASURES: Histological evaluation of all skin plaques was performed. Fresh skin plaques were cultured to obtain Schwann cells and the NF2 gene was genetically analyzed. For all 7 patients, NF2 clinical history was reviewed. RESULTS: In all 7 patients (4 male and 3 female), all skin plaques analyzed were histologically characterized as plexiform schwannomas. Genetic analysis of primary Schwann cell cultures derived from them allowed the identification of a constitutional and a somatic NF2 mutation. Genetic testing allowed the early diagnosis of NF2 in a child only exhibiting the presence of skin plaques. Most of the patients with NF2 analyzed had an early presentation of skin plaques and a severe NF2 phenotype. CONCLUSIONS AND RELEVANCE: This work emphasizes the clinical utility of a careful dermatological inspection and the correct identification of skin plaques in children for an early diagnosis of NF2. We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.

IMPORTANCE Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing. OBJECTIVE To determine the clinical utility of skin plaque identification and characterization in children for reaching an early diagnosis of patients with NF2 and to evaluate their molecular pathogenesis and their use in the genetic diagnostics of NF2. DESIGN, SETTING AND PARTICIPANTS Diagnostic test study by the histological and genetic characterization of skin plaques from patients with NF2. Patients were 7 individuals with NE2 or clinical suspicion of NF2 treated at the Spanish Reference Center on Phakomatoses. MAIN OUTCOMES AND MEASURES Histological evaluation of all skin plaques was performed. Fresh skin plaques were cultured to obtain Schwann cells and the NF2 gene was genetically analyzed. For all 7 patients, NF2 clinical history was reviewed. RESULTS In all 7 patients (4 male and 3 female), all skin plaques analyzed were histologically characterized as plexiform schwannomas. Genetic analysis of primary Schwann cell cultures derived from them allowed the identification of a constitutional and a somatic NF2 mutation. Genetic testing allowed the early diagnosis of NF2 in a child only exhibiting the presence of skin plaques. Most of the patients with NF2 analyzed had an early presentation of skin plaques and a severe NF2 phenotype. CONCLUSIONS AND RELEVANCE This work emphasizes the clinical utility of a careful dermatological inspection and the correct identification of skin plaques in children for an early diagnosis of NF2. We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.

Background: Skin problems are among the most frequent reasons for seeking medical attention in primary care. In recent years, as a result of the process of adapting medical curricula to the requirements of the European Higher Education Area, the amount of time students spend learning the concepts of dermatology has been reduced in many universities. Material and methods: In order to reach a consensus on core content for undergraduate education in dermatology, we sent a survey to the 57 members of the instructors' group of the Spanish Academy of Dermatology and Venereology (AEDV), asking their opinions on what objectives should be set for a dermatology course in Spain. A total of 131 previously selected objectives were listed. We then applied the Delphi method to achieve consensus on which ones the respondents considered important or very important (score >= 4 on a Likert scale). Results: Nineteen responses (33%) were received. On the second round of the Delphi process, 68 objectives achieved average scores of at least 4. The respondents emphasized that graduates should understand the structure and functions of the skin and know about bacterial, viral, and fungal skin infections, the most common sexually transmitted diseases (STDs), and the 4 main inflammatory dermatoses. Students should also learn about common complaints, such as itching and bald patches; the management of dermatologic emergencies; purpura and erythema nodosum as signs of internal disease; and the prevention of STDs and skin cancer. During clinical clerkships students should acquire the communication skills they will need to interview patients, write up a patient's medical history, and refer the patient to a specialist. Conclusions: The AEDV's group of instructors have defined their recommendations on the core content that medical faculties should adopt for the undergraduate subject of dermatology in Spain. (C) 2014 Published by Elsevier Espana, S.L.U.

El contingut del Projecte és l’estudi de la Casa Pallarés de Tortosa, més coneguda popularment com Villa Alicia. Es tracta d’un edifici aïllat situat a l’avinguda de la Generalitat 108 de Tortosa, obra de l’arquitecte Pau Monguió i Segura, que fou el màxim exponent del modernisme a Tortosa i Terol. El treball està emmarcat dintre del Departament d’Expressió Gràfica Arquitectònica II de l’Escola Politècnica Superior d’Edificació de Barcelona (EPSEB), i vol aportar a la col.lecció de l’Arxiu de Patrimoni Arquitectònic de Catalunya (APAC) l’estudi històric i gràfic d’aquest edifici modernista catalogat, per tal de deixar constància de les dimensions i l’aparença actual de l’immoble. Per assolir aquesta finalitat s’exposa el procés de presa de dades necessari per l’aixecament gràfic interior i exterior de l’edifici que inclou croquis, esbossos, fotografies, etc. A la vegada s’explica el recull d’informació per a la recerca històrica en base a les visites a l’arxiu històric i col•lecció local de la biblioteca. Seguidament inclou l’estudi històric que passa pel modernisme a Tortosa, la biografia de l’arquitecte Pau Monguió, amb un repàs de les seves obres, fent especial incís en les realitzades a Tortosa. Es continua amb la Història de l’edifici (evolució, transformació i usos), per acabar amb la seva descripció arquitectònica. Finalment s’explica amb detall el treball d’oficina consistent amb la digitalització mitjançant eines informàtiques que condueixen a l’obtenció de la documentació gràfica.