Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Aproveitamento de alimentos de origem animal pela tartaruga-da-amazônia: Podocnemis expansa criada em cativeiro

Foi realizado um trabalho para determinar o aproveitamento alimentar da farinha de carne e ossos (FCO), farinha de vísceras de aves (FVA) e farinha de peixe (FP) em tartaruga-da-amazônia, por meio dos coeficientes de digestibilidade aparente (CDA) da matéria seca (MS), proteína bruta (PB), extrato etéreo (EE) e energia bruta (EB). Os animais experimentais foram 136 filhotes provenientes do Projeto Quelônios da Amazônia, no estado do Mato Grosso, mantidos em caixas com renovação de água e temperatura média de 29ºC. Os CDA foram determinados com dietas contendo 0,1% do marcador óxido de crômio III (Cr2O3). Os CDA da MS, PB, EE e EB foram, respectivamente, de 79,10; 87,61; 93,83 e 79,61% para FCO; 92,45; 94,89; 96,55 e 92,71% para FV e 93,53; 95,13; 94,05 e 93,18% para FP. Os melhores coeficientes foram obtidos com a farinha de peixe e a farinha de vísceras de aves.

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

Fontes e disponibilidade de cálcio e fósforo para a tartaruga-da-amazônia - Podocnemis expansa criada em cativeiro

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Crescimento e digestibilidade de dietas com diferentes teores de fibra para a tartaruga-da-Amazônia - Podocnemis expansa

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219?kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. (C) 2012 Wiley Periodicals, Inc.

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of SaethreChotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. (C) 2012 Wiley Periodicals, Inc.

Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. (C) 2011 Wiley Periodicals, Inc.

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. The clinical variability has been ascribed to quantitative effect of mutations of the sulfate transporter activity. Here we describe two Brazilian sisters, born to healthy and non consanguineous parents, with Robin sequence, mild shortening of upper and lower limbs, brachymetacarpalia/tarsalia, additional and accelerated carpal ossification, marked genu valgum, and multiple epiphysial dysplasia. This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26?+?2T>C), and R279W. This combination of mutations has been observed in individuals with different phenotypes, including DTD, DTD variant, and rMED. The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested.

Pautas y recursos para una planificación. La sección infantil-juvenil de la Biblioteca Insular de Gran Canaria

[ES] Pautas y recursos digitales para la puesta en marcha de una planificacion bibliotecaria en la seccion infantil-juvenil. El contexto de referencia y aplicacion es la Biblioteca Insular de Gran Canaria, no obstante, el esquema básico y las pautas redactadas pueden servir de guion para cualquier otra bibliotecas publicas con seccion infantil-juvenil. Dos aspectos se han tomano como ejes en esta planificacion estrategica: la accesibilidad y la multiculturalidad en la seccion infantil-juvenil de bibliotecas.

Discours chrétiens et spirituels : sur divers sujets qui regardent la vie intérieure, tirés la plupart de la Ste ; écriture

par Madame J[eanne] M[arie] B[ouvier] de La Mothe-Guion

Tutoriales multimedia para sistemas de telecomunicación

Este Proyecto Fin de Carrera está destinado a la ilustración y aprendizaje del uso de varios dispositivos de los laboratorios del Departamento de Ingeniería Audiovisual y Comunicaciones, de la Escuela Universitaria de Ingeniería Técnica de Telecomunicación, de la Universidad Politécnica de Madrid, en forma de vídeos tutoriales basados en mediciones y prácticas habituales de las asignaturas del departamento para que puedan ser utilizados por los alumnos de la escuela como apoyo a las explicaciones del profesor en ocasiones puntuales. En concreto se han realizado hasta seis vídeos tutoriales en los que se explica: el diseño de un circuito impreso y la creación y fabricación de éste. Por otro lado, también se ha explicado el fenómeno del ruido de fase y cómo es el proceso de su medida, como una de las muchas características de un analizador de espectros. A modo de análisis, se ha realizado otro tutorial acerca de la modulación en FM, sus características y sus aplicaciones. Por último se ha hecho un estudio del comportamiento de un analizador de redes, exponiendo su funcionamiento y explicando su proceso de calibración. Para la realización de estos tutoriales se han utilizado diferentes aplicaciones sobre creación de vídeos multimedia, animación, producción de audio y narración. En especial se han usado: Sprint-Layout 5.0, Adobe Flash Professional CS5.5, Camtasia studio 7, Corel VideoStudio Pro X4, Loquendo TTS7 y WinPlot. Para el apartado de las grabaciones de las diferentes escenas se ha necesitado el uso de distintos instrumentos de medida del laboratorio tales como: analizador de espectros, analizador de redes, generador de señal, generador de funciones, osciloscopio y otros equipos adicionales como: cámara de vídeo y trípode del departamento. Para la composición de los diferentes tutoriales se ha comenzado creando un guion, para cada uno de ellos, estableciendo la aparición de las imágenes, vídeos, y locución. A continuación se exponen los diferentes temas en los que se han basado estos tutoriales de laboratorio, uno a uno. ABSTRACT. This Project is destined to learn the use of several devices at the laboratory of “Ingeniería Audiovisual y Comunicaciones” Department at “Escuela Universitaria de Ingeniería técnica de Telecomunicaciones” of “Universidad Politécnica de Madrid”, on the way as tutorial videos base on the subjects from this department to be used by the college students as help of the teacher’s explanations. In this project you will find up to six tutorial videos, showing: printed circuit design, printed circuit board manufacture. You can also find an explanation about the phenomenon of phase noise and how it’s its measurement process, as one of the many features of a spectrum analyzer. Another tutorial video is based on FM modulation, its features and applications. The last tutorial explains the networks analyzer functionalities and its calibration process. To carry out these tutorials different applications have been used to create multimedia videos, animation, audio production and storytelling. Such as Sprint Layout 5.0, Camtasia 7.0, Corel VideoStudio Pro X4, Adobe Flash Professional CS5.5, Loquendo TTS7 y WinPlot. About the recording side of the different scenes, several equipment have been required at the laboratory, such as spectrums analyzer, signal generator, oscilloscope, function generator, network analyzer and other additional devices, such as: a video camera with its tripod. The composition of the different tutorials has begun creating a script, for each of them, setting the times of appearance of images, video, speech and music. After this abstract, the different topics of the tutorials are showed, one by one.

Lo Infraordinario. Los porteros automáticos como relectura de la Gran Vía de Madrid

A través de herramientas como el análisis, la descripción, la fotografía o la cartografía y teniendo como base los guiones de: “Aprendiendo de Las Vegas” como guion practico, y los métodos usados por Georges Perec como guion teórico; se pretende encontrar lo infraordinario en la Gran Vía de Madrid. Para posteriormente plantear una relectura que cuestione los precedentes y nos permita descubrir otra manera de leer y explorar un nuevo campo. Que nos permita desvelar cómo lo infraordinario funciona como reflejo y retrato de la estructuración de cada edificio e incluso de la Gran Vía. Through tools such as analysis, description, photo or mapping and taking as a basis the scripts of "Learning from Las Vegas" as a practical guideline, and the methods used by Georges Perec as a theoretical one; it aims to find the infraordinary in Madrid's Gran Via. To propose subsequentlya rereading that questions precedents and that allows us to find another way of interpreting and exploring a new field. To enable us to reveal how the infraordinary works as a reflection and structuring portrait of each building and even of the Gran Vía.