Search results for "Malin"
showing 10 items of 110 documents
The genomic and clinical landscape of fetal akinesia
2020
International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).Results: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1…
Epizootic of dolphin morbillivirus on the Catalonian Mediterranean coast in 2007
2011
BETWEEN 1990 and 1992, thousands of striped dolphins (Stenella coeruleoalba) stranded along the Mediterranean coast due to a newly described virus, the dolphin morbillivirus (DMV) (Domingo and others 1990, 1992). DMV is one of the several morbilliviruses that have killed marine mammals worldwide since 1987 (Di Guardo and others 2005). A new DMV epizootic has been recently confirmed from the Mediterranean Spanish and French coasts during 2007 to 2008 (Fernández and others 2008, Raga and others 2008, Keck and others 2010). This short communication describes the pathological findings associated with DMV infection and secondary infections, observed during this epizootic on the Mediterranean coa…
Actin-related myopathy without any missense mutation in the ACTA1 gene.
2004
Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of nemaline myopathies. This article concerns a then newborn, now 21/2-year-old boy, the first and single child of nonconsanguineous parents, who was born floppy, requiring immediate postnatal assisted ventilation. A quadriceps muscle biopsy revealed large patches of thin myofilaments reacting at light and electron microscopic levels with antibodies against actin but only a few s…
Intranuclear nemaline rod myopathy
2006
The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis. Muscle Nerve, 2006
Malinowski and Bloch in the Field: Fragments, Beginnings and Imaginations
2010
Lo zoccolo molle e più clandestino del saggio è costituito dallo smussamento graduale, ma incondizionato della nozione di autore in favore di una funzione autore che consente di meglio fare emergere (o, viceversa, fare sparire), sull’esempio di Foucault, la consistenza apparente di un atto originario dietro il brusio delle voci della cultura. Il contributo è più apertamente incentrato sulla comparazione inedita di un antropologo e di uno storico: Bronislaw Malinowski e Marc Bloch. Mi sono servito intenzionalmente della ‘comparazione’ allo scopo di tentare un montaggio di alcuni testi dei due autori (alieni l’uno all’altro per formazione e per esperienze teoriche) e il mio stesso, graduale e…
L’osservazione partecipante. Un topos metodologico problematico
2020
While it is well known that fieldwork started long before Malinowski, it is equally well known that the ethnographic method based on participant observation has been, since the 1920’s, taken as a foundation for anthropological research and for the scientific status of the knowledge acquired by its means. This essay has several purposes: highlighting some issues related to Malinowski’s theory and practice of research, which are full of implications not always grasped in their theoretical and methodological complexity; recalling some criticisms that have been put forward in the anthropological debate towards the notion of reflexive observation; discussing some uses and abuses of ethnographic …
Commenti a “Bronislaw Malinowski, l’antropologia pratica, la politica e il colonialismo” di Antonino Colajanni, con una risposta dell’autore
2022
Commenti a “Bronislaw Malinowski, l’antropologia pratica, la politica e il colonialismo” di Antonino Colajanni, con contributi di Marco Bassi, Valeria Ribeiro Corossacz, Antonio De Lauri, Frederico Delgado Rosa, Andrea E. Pia, Leonardo Piasere, Daniela Salvucci, Ivan Severi, Barbara Sorgoni, Jaro Stacul, Giuseppe Tateo, Elisabeth Tauber, Dorothy L. Zinn, Pier Paolo Viazzo e una risposta dell’autore.
Fungal-associated NO is involved in the regulation of oxidative stress during rehydration in lichen symbiosis
2010
[EN] Background Reactive oxygen species (ROS) are normally produced in respiratory and photosynthetic electron chains and their production is enhanced during desiccation/rehydration. Nitric oxide (NO) is a ubiquitous and multifaceted molecule involved in cell signaling and abiotic stress. Lichens are poikilohydrous organisms that can survive continuous cycles of desiccation and rehydration. Although the production of ROS and NO was recently demonstrated during lichen rehydration, the functions of these compounds are unknown. The aim of this study was to analyze the role of NO during rehydration of the lichen Ramalina farinacea (L.) Ach., its isolated photobiont partner Trebouxia sp. and Ast…
Crystal structure of vinorine synthase, the first representative of the BAHD superfamily.
2005
Vinorine synthase is an acetyltransferase that occupies a central role in the biosynthesis of the antiarrhythmic monoterpenoid indole alkaloid ajmaline in the plant Rauvolfia. Vinorine synthase belongs to the benzylalcohol acetyl-, anthocyanin-O-hydroxy-cinnamoyl-, anthranilate-N-hydroxy-cinnamoyl/benzoyl-, deacetylvindoline acetyltransferase (BAHD) enzyme superfamily, members of which are involved in the biosynthesis of several important drugs, such as morphine, Taxol, or vindoline, a precursor of the anti-cancer drugs vincaleucoblastine and vincristine. The x-ray structure of vinorine synthase is described at 2.6-angstrom resolution. Despite low sequence identity, the two-domain structure…
Congenital myopathies at their molecular dawning
2003
The introduction and application of molecular techniques have commenced to influence and alter the nosology of congenital myopathies. Long-known entities such as nemaline myopathies, core diseases, and desmin-related myopathies have now been found to be caused by unequivocal mutations. Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a morphological hallmark as in desminopathy and actinopathy, the latter a subtype among the nemaline myopathies. Immunohistochemistry has played a crucial role in recognizing this new group of protein aggregate myopathies within the spectrum of congenital myopathies. It is to be expected…