Oral findings in Midline Syndrome: a case report and literature review

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients.

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Inverted ductal papilloma of the oral cavity secondary to lower lip trauma. A case report and literature review

Inverted ductal papilloma of the oral cavity is an infrequent benign neoplasm of papillary appearance that originates in the secretory duct of a salivary gland. The etiology is unknown, though some authors have related it to human papillomavirus (HPV) infection. We present the case of a 40-year-old woman with a tumor of the lower lip mucosa. Histopathological study of the lesion diagnosed inverted ductal papilloma of the oral cavity. Human papillomavirus DNA detection and typing based on tumor lesion DNA amplification and posterior hybridization, revealed no presence of viral DNA. The antecedents of trauma reported by the patient could have played an important role in the development of this tumor

Tuberous sclerosis complex with oral manifestations: A case report and literature review

Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. Patients with TSC present mutations of the TSC1 and TSC2 genes, which intervene in cell cycle regulation and are important for avoiding neoplastic processes. No studies have been found associating TSC with an increased risk of oral cancer, though it has been shown that the over-expression of TSC2 could exert an antitumor effect. Careful oral and dental hygiene, together with regular visits to the dentist, are needed for the prevention and early detection of any type of oral lesion. The renal, pulmonary and cardiac alterations often seen in TSC must be taken into account for the correct management of these patients.

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Literature and Mythology in Tennessee Williams's "Suddenly Last Summer": Fighting against Venus and Oedipus

The aim of this article is to analyze accurately the role played by two classical references, Venus and Oedipus, in Tennessee Williams Suddenly Last Summer, in accordance with the usual nature of studies on Classical Tradition a Greek and Roman- and focusing in this case on the relationship between literature and mythology. It is thanks to Venus and Oedipus that the playwright succeeds in showing the magnitude of mens and womens tragedy, which from his point of view is simply that they have failed to see either kindness in the face of God or to feel his loving and fatherly providence.

Surface topography and mixed-pixel effects on the simulated L-band brightness temperatures.

The impact of topography and mixed pixels on L-band radiometric observations over land needs to be quantified to improve the accuracy of soil moisture retrievals. For this purpose, a series of simulations has been performed with an improved version of the soil moisture and ocean salinity (SMOS) end-to-end performance simulator (SEPS). The brightness temperature generator of SEPS has been modified to include a 100-m-resolution land cover map and a 30-m-resolution digital elevation map of Catalonia (northeast of Spain). This high-resolution generator allows the assessment of the errors in soil moisture retrieval algorithms due to limited spatial resolution and provides a basis for the development of pixel disaggregation techniques. Variation of the local incidence angle, shadowing, and atmospheric effects (up- and downwelling radiation) due to surface topography has been analyzed. Results are compared to brightness temperatures that are computed under the assumption of an ellipsoidal Earth.

Woody Allen i l'esperit de la tragèdia grega: de Crimes and Misdemeanors a Match Point

Nombrosos són ja els estudis que s'han centrat en l'anomenat "cinema seriós" de Woody Allen i, entre ells, paga la pena de mencionar el que Pau Gilabert Barberà, autor d'aquest article, va escriure (2006) sobre el que, en opinió seva, és el llegat sofístic subjacent en el guió de Crimes and Misdemeanors. En aquesta ocasió, el seu objectiu és analitzar la trajectòria fluctuant del director americà en relació a la tragèdia grega, des de la convicció que, només així, és possible revelar la seva empatia amb l'esperit tràgic dels grecs i comprendre la seva necessitat de presentar aquell gènere literari com un paradigma des del qual entendre les grandeses i misèries del món contemporani.

Woody Allen and the Spirit of the Greek Tragedy: from Crimes and Misdemeanors to Match Point

Many studies have already paid attention to what is called the "serious films" by Woody Allen and, among them, it is also worth mentioning the one written by the very Pau Gilabert Barberà (2006), which is devoted to the Sophistic legacy underlying in his opinion the screenplay of Crimes and Misdemeanors. On this occasion, his aim is to analyse the fluctuating sight of the American director with regard to the Greek tragedy. Indeed, Gilabert is convinced that, only in this way, it is possible to reveal the true Allen¿s sympathy with the tragic spirit of the Greeks, as well as to understand his urge to present that ancient literary genre as a paradigm with the help of which one can evaluate the greatness and misery of our contemporary world.

Woody Allen y el espíritu de la tragedia griega: de Crimes and Misdemeanors a Match Point

Numerosos son ya los estudios que se han centrado en el llamado "cine serio" de Woody Allen y, entre ellos, cabe mencionar el que Pau Gilabert Barberà, autor de este artículo, escribió (2006) sobre lo que, en su opinión, es el legado sofístico subyacente en el guión de Crimes and Misdemeanors. En esta ocasión, su objetivo es analizar la trayectoria fluctuante del director americano en relación con la tragedia griega, desde la convicción de que, sólo así, es posible revelar su empatía con el espíritu trágico de los griegos y comprender su necesidad de presentar aquel género literario como un paradigma desde el cual entender las grandezas y miserias del mundo contemporáneo.

Les Sentències catòliques del diví poeta Dant (1545) d’en Jaume Ferrer de Blanes: edició crítica del text

Procurador reial i nobiliari, cosmògraf, joier, lapidari, mercader i escriptor, i al capdavall, un ciutadà català honrat, en Ferrer (Vidreres, ~1445 – Blanes, 1529) va marxar de ben jove, primer, a la cort de Nàpols, al servei del rei en Ferran I, i després a la cort de Sicília, al servei de la reina na Joana de Sicília. Acabada aquesta peripècia italiana va tornar a Blanes al servei del vescomte de Cabrera i de Bas fins que va morir a la mateixa vila al 1529. Un seu criat, disset anys més tard, va editar uns papers esparsos que havia trobat a can Ferrer, les (sic) Sentèncias cathòlicas del diví poeta Dant florentí, compilades per lo prudentíssim mossèn Jaume Ferrer de Blanes, incloent-hi tres parts. La primera, Conclusions, és un sumari destinat a mostrar (sic) «Entre totas las cosas necessàries a l’home per aconseguir lo seu fi y beatitut eterna principalment són tres»; la segona, Meditació, és una reflexió a fi d’il•luminar els misteris sobre la passió i mort de Jesucrist a (sic) «lo santíssim loch de Calvari»; la tercera, Letras, és un conjunt de dotze documents, entre cartes i d’altres textos, «fetas a mossèn Jaume Ferrer, respostes e regles per ell ordenades en cosmographia y en art de navegar». En Ferrer, home de grans recursos, fa un recorregut per tots els coneixements que havia acumulat al llarg de la seva vida, de Dant Alighieri a Ptolemeu i del marquès de Santillana a Albert Gran o a Aristòtil, fent servir fragments de la Commedia, dels Proverbios, de la Bíblia i de moltes altres autoritats científiques i filosòfiques, en català, italià, espanyol, llatí i, també, set mots en arameu

Anàlisi i proposta de renovació de la web dels Estudis d'Humanitats i Filologia de la UOC

Aquest treball té com a finalitat, d'una banda, col·laborar a determinar les mancances, tant de disseny com de contingut, que té actualment el web dels Estudis d'Humanitats i Filologia de la UOC i, de l'altra, fer una proposta d'un nou disseny, que inclogui la reestructuració dels continguts.

Xoà, literatura i cinema

Aquest treball de final de carrera tracta sobre les diferents perspectives i aproximacions a l'Holocaust nazi per part de la literatura i el cinema. La Xoà, forma que els jueus utilitzen per anomenar l'Holocaust, és un dels moments més importants de la història europea. Ens agradaria veure si aquest tema tan delicat és tractat des de diferents perspectives i aproximacions en la literatura i el cinema. També voldríem esbrinar quina pel·lícula és millor per ensenyar què va ser l'Holocaust a una persona adulta, a un grup d'adolescents, a uns infants, etc. i si hi ha alguna pel·lícula o novel·la que vagi més enllà, en el sentit que tracti l'Holocaust des d'un punt de vista més simbòlic que no pas realista, d'arrel kafkiana, com en el cas de "L'incinerador de cadàvers". Per trobar aquestes diferents perspectives (més realistes i veristes o bé més simbòliques) caldrà observar diversos tipus de literatura (biogràfica, semibiogràfica i de ficció), pel·lícules (bèl·liques, drames, biogràfiques, etc.), articles... Analitzarem al mateix temps què diuen diferents autors sobre l'holocaust com un fet inenarrable. Compararem els dos o tres punts de vista (torturats, torturadors i testimonis).