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.

Amor i literatura: dos conceptes per a la creació d'una novel·la

Treball de recerca realitzat per una alumna d'ensenyament secundari i guardonat amb un Premi CIRIT per fomentar l'esperit cientí­fic del Jovent l'any 2009. L'amor, l'etern tema en el món literari és el protagonista de la temàtica en què se centra el projecte però, des de les primeres mostres literàries fins l'actualitat són infinites les creacions aparegudes. El treball s'ha centrat en algunes que són una digna representació de l'amor literari en cada època i en diverses parts de la literatura universal. Fins aquí un plantejament que no s'alunya de cap model realitzat dins de la temàtica de la literatura comparada. Però per solucionar la manca d'un fil conductor es va crear una novel·la que és la que guia aquest treball. Així es mostra el que una persona pot extreure llegint diverses obres d'amor literari, i no només sobre teories generals, sinó també d'opinions i pròpies emocions que provoca l'experiència de lectura. De la mà d en Marco, un jove veronès, i la seva vella amiga, la bibliotecària Sophie, es guia al lector a través d'un viatge que sorgeix de les primeres mostres d'amor escrit i arriba fins als nostres dies.

Developing and evaluating a pictogram-based Instant Messaging service for individuals with cognitive disabilities

Information and communication technologies pose accessibility problems to people with disabilities because its design fails to take into account their communication and usability requirements. The impossibility to access the services provided by these technologies creates a situation of exclusion that reduces the self-suficiency of disabled individuals and causes social isolation, which in turn diminishes their overall quality of life. Considering the importance of these technologies and services in our society, we have developed a pictogram-based Instant Messaging service for individuals with cognitive disabilities who have reading and writing problems. Along the paper we introduce and discuss the User Centred Design methodology that we have used to develop and evaluate the pictogram-based Instant Messaging service and client with individuals with cognitive disabilities taking into account their communication and usability requirements. From the results obtained in the evaluation process we can state that individuals with cognitive disabilities have been able to use the pictogram-based Instant Messaging service and client to communicate with their relatives and acquaintances, thus serving as a tool to help reducing their social and digital exclusion situation.

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.

La Guerra al cor : creació d'un recital coral-espectacle al voltant de la Guerra Civil Espanyola

La Guerra al Cor és un espectacle a mig camí entre el concert coral i el recital literari. A partir de la lectura i la tria d'un gran corpus de literatura catalana al voltant de la Guerra Civil i de la tria d'un repertori coral universal i heterogeni, s'ha confeccionat un guió entrellaçant ambdós elements. En aquest treball escrit s'argumentarà aquesta tria mitjançant la reflexió sobre els concerts interdisciplinars i l'estudi del context històric, literari i musical del conflicte en qüestió.