1,721,159 research outputs found
A de novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic and molecular characterization
No full textProtein-bound plasmahomocyst(e)ine and identification of heterozygotes for cystathionine-synthasedeficiency
No full textA simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded childrenand their mothers
No full textDisorders of nuclear-mitochondrial intergenomic signalling
No full textIn addition to sporadic or maternally-inherited mutations of the mitochondrial genome, abnormalities of mtDNA can be transmitted as mendelian traits. The latter are believed to be caused by mutations in still unknown nuclear genes, which deleteriously interact with the mitochondrial genome. Two groups of mtDNA-related mendelian disorders are known: those associated with mtDNA large-scale rearrangements and those characterized by severe reduction of the mtDNA copy number, The most frequent presentation of the first group of disorders is an adult-onset encephalomyopathy, defined clinically by the syndrome of progressive external ophthalmoplegia ''plus,'' genetically by autosomal dominant transmission of the trait, and molecularly by the presence of multiple deletions of mtDNA. The second group of disorders comprises early-onset, organ-specific syndromes, associated with mtDNA depletion, that are presumably transmitted as autosomal recessive traits. Linkage analysis and search for candidate genes are two complementary strategies to clarify the molecular basis of these disorders of the nuclear-mitochondrial intergenomic signalling
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Presentazione atipica di neuropatia ottica di leber
No full textPresentazione atipica di neuropatia ottica di leber
Di Maggio C 1
, Nardecchia F 1
, Carrozzo R 3
, Pucci C1
, Mattiucci C4
, Varrasso G 4
, De Negri A 2
,
Plateroti R 5
, Torraco A 3
, Bertini E 3
, Leuzzi V 1
, Moramarco A 5
1DAI Neurosc e Sal Ment, Univ Sapienza, Roma, 2UOC Oculistica, Osp San Cam Forl, Roma, 3Un
Mal Musc e Neurodeg, OPBG, Roma, 4DAI Mat Infant e Sc Urol, Univ Sapienza, Roma, 5DAI Testa
Collo, Oftalm, Univ Sapienza, Roma
INTRODUZIONE/BACKGROUND: La neuropatia ottica ereditaria di Leber (LHON) è una
malattia mitocondriale a trasmissione matrilineare, a penetranza incompleta e insorgenza tra i 15 e i
35 anni, caratterizzata da deficit binoculare del visus, acuto/subacuto, simultaneo o sequenziale.
L’esordio in età infantile è raro.
METODI / PAZIENTI: Segnaliamo un bambino di 12 anni che ha manifestato in pieno benessere
un deficit acuto del visus (OD 4/10, OS 6/10) e concomitante congiuntivite di ndd.Nonna e cugino
sulla linea materna con pregressa neuropatia ottica di ndd, in un caso regredita spontaneamente. Il
bambino ha sofferto di epilessia idiopatica, in remissione dall’età di 11 anni. L’esame neurooftalmologico all’esordio mostrava assenza di deficit pupillare afferente; FOO: papille ottiche
diffusamente rilevate, teleangectasie presenti tra le fibre ispessite, vasi venosi congesti, piccole
emorragie lungo le fibre del polo superiore (OD) e al polo infero-temporale (OS). Ishihara alterato.
Scotoma centrocecale bilateralmente. OCT: ispessimento dello strato delle fibre nervose e del nervo
ottico bilateralmente, riduzione dello strato delle cellule ganglionari asimmetrico (OD>OS).
Fluorangiografia: tenue diffusione papillare nelle fasi tardive, modesto turgore diffuso dei vasi
venosi, papilla ottica a margini sfumati, congestione dei grossi vasi, rete capillare accentuata ed
ectasica. PEV Pattern: latenza aumentata, in OD a basse frequenze, in OS a medie frequenze. Nella
norma: RMN encefalo (mdc), PEV Flash, ERG, CSF (pressione liquorale, esame chimico-fisico, Ab
antiacquaporina4 e anti-MOG), sierologia per EBV, CMV, HSV1-2, Morbillo, VZV, Borrelia.
RISULTATI: La diagnosi è stata effettuata mediante sequenziamento con metodo Sanger che ha
evidenziato la mutazione T14484C nel gene MT-ND6 in omoplasmia.
DISCUSSIONE: Questo caso è peculiare per la presentazione atipica con un(o) (pseudo)edema
papillare che può essere causa di ritardo diagnostico e terapeutico
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
No full textWe have successfully applied a strategy based on the "cyberscreening" of the expressed sequence tags database using yeast protein sequences as "probes" to identify the human gene orthologs to BCS1, COX15, PET112, COX11, and SCO1, five yeast genes involved in the biogenesis of the mitochondrial respiratory chain complexes. In yeast, BCS1 is involved mainly in the assembly of complex III, while the other genes appear to control the structure/function of cytochrome-e oxidase, Significant amino acid identity and similarity were demonstrated by comparison of the human with the corresponding yeast polypeptides. Sequence alignment revealed numerous colinear identical regions and the conservation of functional domains. Mitochondrial targeting of the human gene products, suggested by computer analysis of the protein sequences, was confirmed by an in vitro import and protease-protection assay. These data strongly suggest that the human gene products share similar or identical functions with their yeast homologues. Genes controlling the structure/function of the respiratory chain complexes are attractive candidates for human mitochondrial disorders such as Leigh disease. However, both sequence analysis and functional complementation assays on an index patient do not support an etiological role for any of these genes. (C) 1998 Academic Press
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