Partial Rhombencephalosynapsis.

Clinical history - A 4-year-old boy, born prematurely at 29 weeks (twin pregnancy), with periventricular leukomalacia and epilepsy underwent brain MRI. Neurological examination showed severe developmental retardation with axial hypotonia, spastic tetraparesis and convergent strabismus. Imaging findings - Cranial MRI revealed typical aspects of partial rhombencephalosynapsis with vermian hypoplasia, midline fusion of the cerebellar hemispheres and transversely oriented folia and fissures. There was also mild dilatation and dysmorphism of the ventricular system, the septum pellucidum was absent, the hippocampi were malrotated and had vertical orientation and additional finding of associated periventricular cystic leukomalacia. Discussion - Rhombencephalosynapsis (RS) is a rare congenital defect of the cerebellum classically characterised by vermian agenesis or hypogenesis, fusion of the hemispheres, and closely apposed or fused dentate nuclei. It is now considered to result from an absence of division of the cerebellar hemispheres, following an insult between the 28th and 44th day of gestation (i.e., before the formation of the vermis). Other features have also been described such as fusion of the thalami and cerebral peduncles, malrotated hippocampi, corpus callosum agenesis, hypoplastic chiasm, absence of the septum pellucidum, ventriculomegaly, agenesis of the posterior lobe of the pituitary and cortical malformations. Musculoskeletal, cardiovascular, urinary tract, and respiratory abnormalities have been reported. Typical symptoms consist of swallowing difficulties, delayed motor acquisitions, muscular hypotonia, spastic quadriparesis, cerebellar signs including dysarthria, gait ataxia, abnormal eye movements, and seizures and hydrocephalus. The major MRI signs consist of fused cerebellar hemispheres, with absent or hypoplastic vermis, narrow diamond-shaped fourth ventricle and fused dentate nuclei. In a minority of cases, partial RS has been identified by MRI, demonstrating the presence of the nodulus and the anterior vermis and absence of part of the posterior vermis with only partial fusion of the hemispheres in the inferior part. Other cerebellar malformations involving vermian agenesis or hypoplasia include the Dandy–Walker continuum, Joubert syndrome, tectocerebellar dysraphy or pontocerebellar hypoplasias, and are now easily distinguished from RS by both brain MRI and morphology.

Empirical models for quantification of machining damage in composite materials

Dissertação para obtenção do Grau de Doutor em Engenharia Mecânica

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.

Mastodonte em depósitos marinhos da Praia do Penedo (Portugal)

O achado de um dente de mastodonte, cf. Tetralophodon longirostris, em depósitos marinhos expostos na praia de Penedo Norte, na Península de Setúbal, permitiu datação rigorosa. Provém da camada 8 do corte, parte basal da sequência deposicional T1; data do início do Tortoniano, ca. de 11.6 Ma, com base em foraminíferos planctónicos (zona N14) e em 87Sr/86Sr e K/Ar. O dente de mastodonte parece pertencer a Tetralophodon longirostris, espécie conhecida em Portugal em depósitos continentais da primeira parte do Miocénico superior.

Evolution of Teeth and Quadrate in Non-avian Theropoda (Dinosauria: Saurischia), with the Description of Torvosaurus Remains from Portugal

Theropods form a highly successful and morphologically diversified group of dinosaurs that gave rise to birds. They include most, if not all, carnivorous dinosaurs, yet many theropod clades were secondarily adapted to piscivory, omnivory and herbivory, and theropods show a large array of skull and dentition morphologies. This work aims to investigate aspects of the evolution of theropod dinosaurs by analyzing in detail both the anatomy and ontogeny of teeth and quadrates in non-avian theropods, and by studying embryonic and adult material of a new species of theropod. A standardized list of terms and notations for each anatomical entity of the tooth, quadrate, and maxilla is here proposed with the goal of facilitating descriptions of these important cranial and dental elements. The distribution of thirty dental characters among 113 theropod taxa is investigated, and a list of diagnostic dental characters is proposed. As an example, four isolated theropod teeth from the Lourinhã Formation (Kimmeridgian‒Tithonian) of Portugal are described and identified based on a cladistic analysis performed on a data matrix of 141 dentition-based characters coded in 60 taxa. Two shed teeth are referred to an abelisaurid, providing the first record of Abelisauridae in the Jurassic of Laurasia and the one of the oldest records of this clade in the world, suggesting a possible radiation of Abelisauridae in Europe well before the Upper Cretaceous. The consensus tree resulting from this phylogenetic analysis, the most extensive on theropod teeth, indicates that theropod teeth provide reliable data for identification at approximately family level, and this method will help identifying theropod teeth with more confidence. A detailed description of the dentition of Megalosauridae is also provided, and a discriminant analysis performed on a dataset of numerical data collected on the teeth of 62 theropod taxa reveals that megalosaurid teeth are hardly distinguishable from other theropod clades with ziphodont dentition. This study highlights the importance of detailing anatomical descriptions and providing additional morphometric data on teeth with the purpose of helping to identify isolated theropod teeth. In order to evaluate the phylogenetic potential and investigate the evolutionary transformations of the quadrate, a phylogenetic morphometric analysis as well as a cladistic analysis using 98 discrete quadrate related characters were conducted. The quadrate morphology by its own provides a wealth of data with strong phylogenetic signal, and the phylogenetic morphometric analysis reveals two main morphotypes of the mandibular articulation of the quadrate linked to function. As an example, six isolated quadrates from the Kem Kem beds (Cenomanian) of Morocco are determined to be from juvenile and adult individuals of Spinosaurinae based on phylogenetic, morphometric, and phylogenetic morphometric analyses. Morphofunctional analysis of the spinosaurid mandibular articulation has shown that the posterior parts of the two mandibular rami displaced laterally when the jaw was depressed due to a mediolaterally oriented intercondylar sulcus of the quadrate. Such lateral movement of the mandibular ramus was possible due to a movable mandibular symphysis in spinosaurids, allowing the pharynx to be widened. A new species of theropod from the Lourinhã Formation of Portugal, Torvosaurus gurneyi, is erected based on a right maxilla and an incomplete caudal centrum. This taxon supports the mechanism of vicariance that occurred in the Iberian Meseta during the Late Jurassic when the proto-Atlantic was already well formed. A theropod clutch containing several crushed eggs and embryonic material is also assigned to this new species of Torvosaurus. Investigation on the maxilla ontogeny in basal tetanurans reveals that crown denticles, elongation of the anterior ramus, and fusion of interdental plates appear at a posthatchling stage. On the other hand, maxillary pneumaticity is already present at an embryonic stage in non-avian theropods.

Skin lesions simulating blue toe syndrome caused by prolonged contact with a millipede

Venomous animals are those that, by means of a hunting and defense mechanism, are able to inject their prey with a toxic substance produced in their bodies, directly from specialized glands (e.g., tooth, sting, spur) through which the poison passes. Millipedes are poisonous animals; they can be harmful to humans, and their effects usually manifest as erythematous, purpuric, and cyanotic lesions; local pain; and paresthesia. Here, we report a case of skin contact with a millipede for 6h resulting in skin lesions similar to blue toe syndrome.

Dental and facial characteristics of patients with juvenile idiopathic arthritis

OBJECTIVE: It has been shown that the temporomandibular joint is frequently affected by juvenile idiopathic arthritis, and this degenerative disease, which may occur during facial growth, results in severe mandibular dysfunction. However, there are no studies that correlate oral health (tooth decay and gingival diseases) and temporomandibular joint dysfunction in patients with juvenile idiopathic arthritis. The aim of this study is to evaluate the oral and facial characteristics of the patients with juvenile idiopathic arthritis treated in a large teaching hospital. METHOD: Thirty-six patients with juvenile idiopathic arthritis (26 female and 10 male) underwent a systematic clinical evaluation of their dental, oral, and facial structures (DMFT index, plaque and gingival bleeding index, dental relationship, facial profile, and Helkimo's index). The control group was composed of 13 healthy children. RESULTS: The mean age of the patients with juvenile idiopathic arthritis was 10.8 years; convex facial profile was present in 12 juvenile idiopathic arthritis patients, and class II molar relation was present in 12 (P = .032). The indexes of plaque and gingival bleeding were significant in juvenile idiopathic arthritis patients with a higher number of superior limbs joints involved (P = .055). Anterior open bite (5) and temporomandibular joint noise (8) were present in the juvenile idiopathic arthritis group. Of the group in this sample, 94% (P = .017) had temporomandibular joint dysfunction, 80% had decreased mandibular opening (P = 0.0002), and mandibular mobility was severely impaired in 33% (P = .015). CONCLUSION: This study confirms that patients with juvenile idiopathic arthritis a) have a high incidence of mandibular dysfunction that can be attributed to the direct effect of the disease in the temporomandibular joint and b) have a higher incidence of gingival disease that can be considered a secondary effect of juvenile idiopathic arthritis on oral health.

Wear of PEEK-Ti6Al4V systems under micro-abrasion and linear sliding conditions

Dissertação de mestrado integrado em Engenharia Biomédica

The relevance of bacterial interactions on oral health

Dissertação de mestrado integrado em Engenharia Biomédica (área de especialização em Engenharia Clínica)

Estudio de los modos de vida e historia biológica de las poblaciones humanas de la región central de argentina desde el registro bioarqueológico. Lifestyles and biological history of human populations of the central region of argentina from bioarchaeological record.

Se pretende aportar al estudio de la estructura, historia biológica y estilos de vida de las poblaciones que habitaron la región central de Argentina durante el Holoceno, desde una perspectiva que combina los aportes teóricos y metodológicos de la Genética del paisaje y la Bioarqueología. Interesa a) identificar barreras de diferenciación morfológica entre poblaciones, b) poner a prueba modelos poblacionales para explicar la variación observada e identificar las variables que contribuyan a dicha diferenciación, c) evaluar la congruencia de los resultados obtenidos, d) reconstruir los patrones de movilidad residencial de las poblaciones, e) estudiar sus patrones dietarios considerando diferencias temporales y espaciales, f) identificar indicadores de diversos tipos de estrés (nutricional, funcional), así como traumas, g) estudiar las historias tafonómicas del registro bioarqueológico regional, y h) proponer un modelo para explicar el poblamiento y la evolución local de las poblaciones que habitaron esta región, a partir de la información arqueológica y bioantropológica. Para el análisis de los patrones espaciales de variación biológica se trabajará a partir del registro de rasgos epigenéticos craneales, medidas lineales y datos obtenidos a partir de morfometría geométrica sobre fotografías en 2D sobre muestras arqueológicas procedentes de esta región y de otras regiones geográficas de la Argentina. Para el análisis de la estructura de la población se trabajará a partir del cálculo de la matriz R para datos morfológicos y sus estimaciones derivadas (distancia D², Fst, coordenadas principales) y la aplicación del modelo de Harpending y Ward. Desde la genética del paisaje, se realizarán análisis de autocorrelación espacial, barreras genéticas y análisis geoestadísticos (kriging). Para el estudio de los modos de vida a partir del registro bioarqueológico se relevarán patologías dento-alveolares y alteraciones vinculadas con la salud bucal tales como desgaste dental –a nivel micro y macroscópico- caries, abscesos, pérdidas dentales antemortem, cálculos, hipoplasias, marcadores esqueletales de salud y lesiones traumáticas. Se analizarán isótopos estables (δ13C, δ15N, 86Sr y 87Sr) en restos óseos humanos de diversos sitios arqueológicos con el objetivo de reconstruir patrones dietarios y analizar la movilidad residencial y migración de las poblaciones. Paralelamente, se establecerán procedimientos de control tafonómico de los restos óseos, y se harán análisis específicos para estudiar las historias tafonómicas y evaluar el grado de integridad de los contextos de depositación y de las colecciones en general. Estimamos que el análisis de los patrones espaciales y temporales de variabilidad morfológica craneofacial, así como el estudio de las dietas a partir de información isotópica y bioarqueológica, de las migraciones y la movilidad residencial de las poblaciones a partir de isótopos de estroncio, la reconstrucción de comportamientos y actividades cotidianas a partir de marcadores de estrés músculo-esqueletal, en un marco cronológico y espacial constituye un aporte novedoso y eficaz que permitirá incrementar de manera substancial la información sobre la evolución de las poblaciones originarias del centro del territorio argentino. The aim of this project is to study the structure, biological history and lifestyles of the people that inhabitated the central region of Argentina during the Holocene, from a perspective that combines theoretical and methodological contributions of Landscape Genetics and Bioarchaeology. To analyze the spatial patterns of biological variation we consider epigenetic cranial traits, linear measurements and data obtained from geometric morphometric on 2D photographs. Morphological variation will be focused on landscape genetics (autocorrelation, genetic barriers and geostatistical analysis –kriging-) and population structure (matrix R, D², Fst, principal coordinates, Harpendig and Ward model). For the study of lifestyles from bioarchaeological record we consider alveolar pathologies and disorders related to oral health such as tooth wear, micro and macroscopic level, caries, abscesses, antemortem tooth loss, hypoplasia, markers skeletal health and traumatic injuries, as well as taphonomic processes. Stable isotopes will be analyzed (δ13C, d15N, 86Sr and 87Sr) in human skeletal remains from various archaeological sites in order to reconstruct and analyze dietary patterns of residential mobility and migration of populations. It will be established procedures of taphonomic control on skeletal remains, analysis to study taphonomic histories and assess the degree of completeness of depositional context and collection, in general terms. We consider that analysis of spatial and temporal patterns of variability in craniofacial morphology and the study of health and diets from isotopic and bioarchaeological data, migration and residential mobility patterns from strontium isotopes, as well as activity patterns from stress markers is a novel and effective contribution that will substantially increase the information about the local evolution of populations that inhabitated the center of Argentina.

Three new species of Cephalobium (Nematoda, Cephalobiidae) parasites of Gryllodes laplatae (Orthoptera, Gryllidae) from Argentina

Three new species of Cephalobium Cobb, 1920, C. laplata from City Bell, C. polidentatum from Lincoln and C. dispar from Gorina, parasites of Gryllodes laplatae Saussure, 1877 from Buenos Aires, Argentina, are described and illustrated. Cephalobium laplata can be differentiated by having the cheilostom with a dorsal unmovable tooth, telostom with three ventral little teeth and two ventral movable claw teeth and gubernaculum triangular and five pairs of genital papillae. Cephalobium polidentatum has cheilostom with a movable ventral tooth, prostom with four dorsal movable teeth and telostom with three teeth; gubernaculum triangular with projections and with one pair of preanal and six pairs of postanal papillae. Cephalobium dispar is characterized by having telostom with two wings around the spicules and one pair of preanal and six pairs postanal papillae.

Osteopatologias e alterações dentárias em Otaria byronia (Pinnipedia, Otariidae) da costa do Rio Grande do Sul, Brasil

Bone diseases and tooth alterations in 47 specimens of Otaria byronia (Blainville, 1820), from southern Brazilian coast, were analized. Tooth wear and the associated bone pathologies were determined, as well as their percentuals. The main infection was osteomyelitis associated with tooth alterations, such as fractures and attrition, both of them exposing the pulp chamber. Tooth attrition increases with age, favoring fractures and their complications, including osteomyelitis, causing a high frequency of them in specimens presenting more pronounced tooth wear. In one specimen tuberculosis was found in the maxilla, perhaps primarily pulmonary. The high frequency of enamel hypoplasia might reflect cyclic food deficit. Infections and tooth fractures might be related to behaviour, such as fishermen interaction, territorial fighting, and accidents during food capture.

The tadpole of Hypsiboas atlanticus (Anura, Hylidae) from northeastern Brazil

The tadpole of Hypsiboas atlanticus (Caramaschi & Velosa, 1996) is described from the municipality of Maceió, State of Alagoas, Brazil. At stage 36 the larvae have an overall elliptical body in lateral and dorsal views, oral disc anteroventral, spiracular tube sinistral, and labial tooth row formula 2(1,2)/3(1). The oral disc is surrounded, almost completely (anterior medial gap present) by a single row of marginal papillae. Described tadpoles of the H. punctatus species group can be differentiated by a combined disc oral features. Additional descriptions of H. punctatus (Schneider, 1799) tadpoles from populations throughout South America may be helpful in determining the status of these populations.

Morphological characterization and sex-related differences of the mandible of the armadillos Chaetophractus vellerosus and Zaedyus pichiy (Xenarthra, Dasypodidae), with consideration of dietary aspects

The morphological characteristics of the mandible of adult Chaetophractus vellerosus (Gray, 1865) and Zaedyus pichiy (Desmarest, 1804) were studied to establish its generalized design and to identify inter- and intra- (sexual) specific differences. Morphological descriptions were complemented with the application of univariate and multivariate (analysis of correlation matrices, PCA, discriminant analysis) techniques. The mandible of both species is very similar, and is characterized by elevated condyle, well developed angular process, distinct coronoid process, tooth row which extends to the rear end of the angle between body and ramus, and unfused but firm symphysis. Although both armadillos are omnivorous, a more slender configuration of the jaw in Z. pichiy could be indicative of a better adaptation of its masticatory apparatus to insectivory. The PCA showed an almost total segregation of both species on PC1 (47.7% of the total variance), with C. vellerosus being associated to mandibles taller and with wider body and ramus. Zaedyus pichiy was characterized by heavy loadings of length parameters on PC2 (22.6% of the variance). A small degree of sexual dimorphism was found, with size-based differences in C. vellerosus (larger mandibles in females) and shape-based differences in Z. pichiy (taller mandibles in males, longer ones in females). Correlations between variables were higher in males of both species, indicating a more stable shape of the mandible than in females. The selected parameters to discriminate sexes were the body length of the mandible in C. vellerosus (correct classification: ca. 86% in males, 81% in females), and the height of the mandible at the level of the last tooth in Z. pichiy (near 85% of right assignment in both sexes). The inclusion of a new variable (body length) in the latter species improved the classification of the females to 100%. Teeth are typically 10 in C. vellerosus and 9 in Z. pichiy, but aberrancies in this basic number, such as unilateral or bilateral extra or fewer teeth, are common.