181 research outputs found
Ancora su "Cimabue" (e altri composti con "cima-")
No full textInspired by a recent paper on
the meaning of “Cimabue”, the
author offers possible conjectures
concerning ancient personal
names formed with the
words “cima” or “cimare”
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks
No full textInduced pluripotent stem cell (iPSC) technology has been successfully used to recapitulate phenotypic traits of several human diseases in vitro. Patient-specific iPSC-based disease models are also expected to reveal early functional phenotypes, although this remains to be proved. Here, we generated iPSC lines from two patients with Sanfilippo type C syndrome, a lysosomal storage disorder with inheritable progressive neurodegeneration. Mature neurons obtained from patient-specific iPSC lines recapitulated the main known phenotypes of the disease, not present in genetically corrected patient-specific iPSC-derived cultures. Moreover, neuronal networks organized in vitro from mature patient-derived neurons showed early defects in neuronal activity, network-wide degradation, and altered effective connectivity. Our findings establish the importance of iPSC-based technology to identify early functional phenotypes, which can in turn shed light on the pathological mechanisms occurring in Sanfilippo syndrome. This technology also has the potential to provide valuable readouts to screen compounds, which can prevent the onset of neurodegeneration
Harmelinius Rosso & Beuck & Vertino & Sanfilippo & Freiwald 2018, n. gen.
No full textGenus Harmelinius Rosso n. gen. Type species. Cribrilina uniserialis Harmelin, 1978. Diagnosis. Colony uniserial, consisting of caudate zooids with an extensive gymnocyst and a frontal shield with costae lacking pelmatidia and intercostal bridges, with only thin, elongated intercostal spaces; oral spines absent; hyperstomial, cleithral ovicells with smooth non-pseudoporous ooecia with a longitudinal suture, formed by a distal kenozooid/avicularium; rare paired, small and round adventitious avicularia, at level with the suboral bar; kenozooids of similar size and outline as autozooids, with small central opesia. Etymology. Named in honour of Jean-Georges Harmelin for his outstanding contribution to the ecology and taxonomy of bryozoans. Masculine Remarks. This genus is erected to allocate Cribrilina uniserialis Harmelin, 1878 (Figs 85, 86), for which the new combination Harmelinius uniserialis n. comb. is suggested. This species was examined owing to similarities with Teresaspis lineata n. comb. It is, indeed, the only known present-day cribrimorph exhibiting a uniserial growth habit. It was described based on only two colonies collected between 810–825 m depth in the central Atlantic archipelago of the Azores, at about 37° N and 25° W. Following Harmelin (1978, 177, fig. 2 and pl. 1, fig. 2), H. uniserialis n. comb. is characterised by: a frontal shield consisting of 13–16 wide and flat costae lacking pelmatidia; absence of oral spines; smooth ooecia without pseudopores and with an evident longitudinal “fissure”, associated with a distal kenozooid bearing a small avicularium; paired, small and round avicularia probably only occuring in ovicellate zooids; kenozooids of similar size and outline of autozooids, with a simple roundish opesia. SEM images of the type material, kindly provided by B. Berning (Figs 85, 86) show extremely thin intercostal spaces not detected by Harmelin (1978). This author himself argumented about the difficulty of accommodating this species in Cribrilina Gray, 1848. The type species of Cribrilina, Lepralia punctata Hassall, 1841, has a pseudoporous ooecium, and zooidal shields consisting of costae with pelmatidia, connected by intercostal bridges leaving large intercostal pores (see Bishop 1994: 226). In contrast, H. uniserialis n. comb. lacks pseudopores in the ectooecium as well as pelmatidia and intercostal bridges. Because of all these differences, Harmelin’s species cannot be maintained within Cribrilina. Additional characters of H. uniserialis n. comb., such as the absence of oral spines, the presence of kenozooids and the uniserial arrangement of zooids, have been so far never reported for species assigned to Cribrilina. Several features of H. uniserialis n. comb., such as the presence of smooth, non-pseudoporous ooecia and paired oral avicularia, are reminescent of Cretaceous cribrimorph genera with runner-like colonies, e.g. Otopora Lang, 1916 and Andriopora Lang, 1916. Andriopora, however, possesses oral spines, and ooecia are formed by the distal autozooid. The possible accommodation of ‘C.’ uniserialis in Andriopora was discussed and discarded by Harmelin (1978).Published as part of Rosso, A., Beuck, L., Vertino, A., Sanfilippo, R. & Freiwald, A., 2018, Cribrilinids (Bryozoa, Cheilostomata) associated with deep-water coral habitats at the Great Bahama Bank slope (NW Atlantic), with description of new taxa, pp. 401-439 in Zootaxa 4524 (4) on page 430, DOI: 10.11646/zootaxa.4524.4.1, http://zenodo.org/record/261061
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: Panel recommendations based on qualitative and quantitative data
No full textPubMedID: 31287005Background: Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Caregivers face a unique set of challenges related to the complex nature of Sanfilippo B, but the burden and impact on quality of life (QoL) of caregivers is poorly defined and best practice guidance for clinicians is lacking. Methods: An international clinical advisors meeting was convened to discuss key aspects of caregiver burden associated with Sanfilippo B based on findings from qualitative and quantitative research undertaken to identify and quantify the nature and impact of the disease on patients and caregivers. Results: Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties. Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress. Conclusion: A Sanfilippo-specific QoL questionnaire is needed that is directed at caregiver needs and burden and best practice management of these domains. © 2019 The Author(s).Shire Alexion Pharmaceuticals Sanofi Genzyme Swedish Orphan Biovitrum Genzyme Genzyme ShireWe thank the participants for their cooperation in this research. The research and analysis into caregiver burden was conducted by Earlene Biggs at MediMedia Managed Markets (Yardley, PA), an ICON Group company, and funded by BioMarin Pharmaceuticals Inc. Editorial support for development of this manuscript was provided by Alan Storey, PhD, and Maryann T. Travaglini, PharmD at Complete Healthcare Communications, LLC (North Wales, PA), an ICON Group company, and funded by BioMarin Pharmaceuticals Inc.ES reports consulting fees from Shapiro Neuropsychology Consulting, LLC. CML has received honoraria for speakers’ fees from Actelion, Genzyme, and Shire HGT; all fees are donated to the CML Medical Foundation for Research and Genetic Diagnosis Support for families with unknown genetic disorders. NM is a consultant for BioMarin, Shire, Genzyme Sanofi, Lysogene, and SOBI; has received grants/research support from BioMarin, Shire, and Genzyme Sanofi; and has received honoraria and travel grants from BioMarin, Shire, Genzyme Sanofi, Actelion, and Amicus. CO’N and NOM declare they have no competing interests. SV has received research support from Alexion Pharmaceuticals; has received travel grants from Actelion, BioMarin, Genzyme, and Shire; and has served as an advisory board member for Vtesse
Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks
No full textInduced pluripotent stem cell (iPSC) technology has been successfully used to recapitulate phenotypic traits of several human diseases in vitro. Patient-specific iPSC-based disease models are also expected to reveal early functional phenotypes, although this remains to be proved. Here, we generated iPSC lines from two patients with Sanfilippo type C syndrome, a lysosomal storage disorder with inheritable progressive neurodegeneration. Mature neurons obtained from patient-specific iPSC lines recapitulated the main known phenotypes of the disease, not present in genetically corrected patient-specific iPSC-derived cultures. Moreover, neuronal networks organized in vitro from mature patient-derived neurons showed early defects in neuronal activity, network-wide degradation, and altered effective connectivity. Our findings establish the importance of iPSC-based technology to identify early functional phenotypes, which can in turn shed light on the pathological mechanisms occurring in Sanfilippo syndrome. This technology also has the potential to provide valuable readouts to screen compounds, which can prevent the onset of neurodegeneration
The representation of the Paraguay War in the “Argentine History” (1965) by José Luis Busaniche. A historiographic approach
No full textDesde comienzos del siglo XXI la historia de la historio-grafía sobre la Guerra del Paraguay (1864-1870) constituye una de las aristas de la renovación que mira al conflicto con "nuevos ojos": en esa línea de investigación se inserta el presente trabajo dedicado a explorar la representación de la contienda bélica en la "Historia Argentina" (1965) de José Luis Busaniche. La obra referida constituye la principal fuente de análisis; en modo complementario, se examinan cartas del autor con otros historiadores del país que contienen información respecto a sus nociones previas sobre la Guerra del Paraguay. Nuestra hipótesis es que el relato que ofreció Busaniche en su "Historia Argentina" mixturó diversos elementos, algunos de los cuales marcaron una ruptura con la interpretación tradicional del conflicto, mientras que otros reflejaron una clara continuidad.Since the beginning of the 21st century, the history of historiography about Paraguayan War is one of the topics that has been examined with “new eyes”: in this line of research, this work is dedicated to exploring the representation of the warfare in José Luis Busaniche´s “Historia Argentina” (1965). The referred book constitutes the main source of analysis. In addition, the author´s letters with other historians of the country which contain information regarding his previous notions about the Paraguayan War are examined. Our hypothesis is that the chronicle offered by Busaniche in the “Historia Argentina” mixed various elements, some of which represented a breaking point with the traditional interpretation of the conflict, while others reflected a clear continuityFil: Sanfilippo, Renzo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Saavedra 15. Instituto de Estudios Históricos, Económicos, Sociales e Internacionales; Argentin
Le féodalisme dans la vallée du Saint-Laurent
No full textIs the history of Laurentian seigneuries the offspring of political conflict? This question, and many others, are among those addressed in Le féodalisme dans la vallée du Saint-Laurent. In this work, Sanfilippo summarizes and analyzes 250 years (1763–2008) of historiographical production in French and English Canada that deals with the Laurentian seigneurial regime.
But the goal of the book is also to put the historians’ discourses on the seigneurial regime back into their respective political contexts. By doing so, the author firmly demonstrates how the history of this regime is inextricably linked to Canadian political dynamics.
The result of an objective look by an Italian historian who studied English and French works for many years, Le féodalisme dans la vallée du Saint-Laurent is also a unique essay in the Canadian historiographical landscape now translated into French. At a time of clear revival in seigneurial history, readers will discover the captivating story of Laurentian seigneuries and encounter Sanfilippo’s opinions.
The postface, written by Olivier Guimond and Arnaud Montreuil, pursues Sanfilippo’s reflections from 2008 to today
Amphipyndax tylotus Foreman 1978
No full text<p> <i>Amphipyndax tylotus</i> Foreman, 1978 (Fig. 4H)</p> <p> <i>Amphipyndax tylotus</i> Foreman, 1978: 745, pl. 4, figs 1, 2. — Sanfilippo & Riedel 1985: 598, fig. 7-2a, b.</p> <p>FIGURED SPECIMEN. — ULVG-7325.</p> <p>MATERIAL. — 12 specimens (recovered with the hydrogen peroxide method); nine specimens (recovered with the acetic acid method).</p> <p>OCCURRENCE. — Upper Campanian to Maastrichtian of central Pacific, and western and eastern central Atlantic (Sanfilippo & Riedel 1985); Late Campanian to Early Maastrichtian of Japan (Hollis & Kimura 2001).</p> <p>REMARKS</p> <p> <i>Amphipyndax tylotus</i> differs from <i>A. pseudoconulus</i> (Pessagno, 1963) by the randomly distributed nodes on the skeleton surface instead of restricted to the segmental divisions. For the revised synonymy of the species see Hollis & Kimura (2001).</p>Published as part of <i>Kochhann, Karlos G. D., Baecker-Fauth, Simone & Fauth, Gerson, 2013, Late Maastrichtian Radiolaria from ODP Leg 165 - Site 999 B, Colombian Basin, pp. 5-20 in Geodiversitas 35 (1)</i> on page 12, DOI: 10.5252/g2013n1a1, <a href="http://zenodo.org/record/4538016">http://zenodo.org/record/4538016</a>
Cribrilaria saginata Rosso & Beuck & Vertino & Sanfilippo & Freiwald 2018, n. comb.
No full textCribrilaria saginata (Winston, 2005) n. comb. (Figs 2–9; Tables 1, 2) Cribrilina radiata: Smitt, 1873: 22 (part), pl. 5, fig. 107; not fig. 108. Puellina saginata Winston, 2005: 32, figs 83–88. Material examined. Great Bahama Bank slope, R/V Maria S. Merian Cruise MSM 20/4. Station GeoB16367-2 (three dead colonies on corals)—SMF-45.501; Station GeoB16376-1 (one dead colony on erect bryozoan)—SMF- 45.502; Station GeoB16377-1 (three dead colonies on corals)—SMF-45.503; Station GeoB16382-1 (one live and two dead colonies on corals)—SMF-45.504. Two dead colonies, one from Station GeoB16376-1 and one from Station GeoB16382-1, both on corals: PMC-Rosso-Bahama Collection Bah.H. B42a. Description. Colonies encrusting, multiserial, unilaminar, but sometimes developing superimposed layers, even attaining sizes of 1 cm 2 or more in the examined material, and comprising tens to hundreds of zooids. Zooids large and flat, distinct, of variable shapes but usually oval, longer than wide with few exceptions; the boundaries marked by shallow grooves (Figs 2–5). Gymnocyst smooth or with faint radiating striations, narrow in the distal half and comparably wider in the proximal half of the zooid, usually with proximal and/or lateral extension(s) between neighbouring zooids (Figs 3–5, 9). Interzooidal communication through basal pore-chambers with very wide windows, visible along lateral and distal walls of zooids at colony margins (Figs 8, 9). Frontal shield circular or oval, occupying most of the frontal surface (Figs 3–5). It is flat and consists of 20–24 wedgeshaped costae, each forming a low blunt bulge proximally and narrowing toward zooidal centre. Costae are connected by several intercostal bridges leaving 7–8, exceptionally nine, regularly spaced, 10–15 µm wide intercostal spaces, subrectangular to kidney-shaped. The largest peripheral pores are provided with papillae. Just 4– 5 intercostal pores, larger (15–25 µm wide) than the others, are seen proximally to the first suboral pair of costae (Figs 6, 7). Suboral costae carinate and raised, merging along midline and forming a prominent shelf with a median suture (Fig. 6). A pore may be sometimes present along the contact line where each costa ends with a prominent point. Orifice transversely D-shaped with a straight proximal border marked by an elevated rim, and a curved distal border with five equally spaced articulated oral spines (Fig. 6), four persisting in ovicellate zooids (Fig. 7). Interzooidal avicularia large, common (with autozooid/avicularium ratio equalling three in several colonies), with a variably shaped but usually triangular cystid and long non-serrated, elongated triangular to almost parallelsided rostrum directed laterally or distolaterally, with paired pointed and down-curving pivotal denticles (Figs 3, 8). Avicularium level with zooids, the rostrum usually embedded in between adjacent zooids, rarely slightly elevated. Ovicells prominent, probably semi-cleithral. Ooecium formed by the distal autozooid [type 1 sensu Ostrovsky (1998, 2008, 2013) and type A sensu Bishop & Househam (1987)]. Ectooecium smooth, with a central longitudinal suture elevated into a keel (Figs 4, 5, 7). Ancestrula not observed. Remarks. The characters in the examined colonies fit well with Winston’s (2005) description, although measurements of zooids and frontal shields are slightly larger, seemingly due to the occurrence of some irregularly shaped and particularly enlarged zooids, possibly caused by uneven substratum because our colonies usually encrust fragments of erect branching corals. It should also be mentioned that interzooidal avicularia have variably elongated rostra, usually straight and parallel-sided, but sometimes shorter and curving in our material. Following discussion about ranking of Cribrilaria and Puellina (see above) we suggested the new combination Cribrilaria saginata n. comb. for Puellina saginata Winston, 2005. The studied colonies were collected in close vicinity to the type locality of this species, a century and a half after its first finding. Only one colony collected by Pourtales off Bahia Honda (Florida Keys), at about 322 m depth in 1868 is stored in Smitt’s collection. It was designated as the holotype by Winston (2005) when describing Cribrilaria saginata (as Puellina). As already mentioned by the latter author, C. saginata n. comb. can be easily distinguished from most other congenerics owing to the large zooidal size and very flat appearance of both zooids and colonies. Conspecificity of the specimens first described from off Florida by Smitt (1873) as Cribrilina radiata with the fossil Puellina (Cribrilaria) scripta (Reuss, 1848) was suggested by Harmelin & Aristegui (1988) but has been rejected by Winston (2005) because Reuss’ species has smaller zooids with a narrower gymnocyst and comparably larger orifices than C. saginata [see also fig. 98 in Bishop & Househam (1987)]. Unlike Winston (2005), however, we question also the conspecificity of C. saginata with present-day populations of Puellina (Cribrilaria) scripta recorded by Harmelin & Aristegui (1988) from deep waters of the Ibero-Moroccan Bay and the Gibraltar Strait. These specimens show a prominent suboral umbo, which is lacking in colonies from the western Atlantic, and also have smaller orifices and interzooidal avicularia. Specimens from the Kermadec region recorded by Gordon (1984) as Puellina (Cribrilaria) innominata and synonymised by Harmelin & Aristegui (1988) with their Puellina (Cribrilaria) scripta, are even more different owing to the very narrow exposed gymnocyst, the frontal shield with less numerous costae ornamented by prominent spiny processes, and a serrated avicularian rostrum. All this material needs to be re-examined. Distribution. Cribrilaria saginata n. comb. is known from shallow bathyal depths in the restricted area S and SE of Florida. The only live colony found in the present material originates from 658 m depth, but dead specimens occurred in the depth interval 641– 673 m. These findings extend the vertical distribution of the species, previously collected at 322 m, and confirm its confinement to deep waters, as also suggested by its absence in shelf habitats (Winston 2005; Winston & Maturo 2009). Cribrilaria saginata n. comb. has been found preferentially to encrust deep-water corals, either exposed skeletons of live coral colonies, or fresh-looking to heavily corroded and oxidecoated dead coral fragments.Published as part of Rosso, A., Beuck, L., Vertino, A., Sanfilippo, R. & Freiwald, A., 2018, Cribrilinids (Bryozoa, Cheilostomata) associated with deep-water coral habitats at the Great Bahama Bank slope (NW Atlantic), with description of new taxa, pp. 401-439 in Zootaxa 4524 (4) on pages 407-411, DOI: 10.11646/zootaxa.4524.4.1, http://zenodo.org/record/261061
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