112,132 research outputs found
Dubowitz, Victor: transcript of an audio interview (27-Sep-2016)
No full textInterview with Professor Victor Dubowitz, conducted by Professor Tilli Tansey, for the History of Modern Biomedicine Research Group, 27 September 2016, in the School of History, Queen Mary University of London. Transcribed by Mrs Debra Gee, and edited by Professor Tilli Tansey. The project management and the technical support were undertaken by Mr Adam Wilkinson and Mr Alan Yabsley, respectively. Professor Victor Dubowitz BSc MB ChB MD PhD FRCP FRCPCH (b. 1931) graduated in medicine in Cape Town (1954), followed by residencies in medicine and surgery at Groote Schuur Hospital. He came to the UK in 1956 for 18 months to get broad clinical experience, exposure to culture, and planned to return to general practice in South Africa. A three-week locum at Queen Mary’s Hospital for Children (Carshalton, Surrey) exposed him to two wards with muscular dystrophy patients. Having come for three weeks he stayed for three years, initially as a Senior House Officer for a year, which he combined with doing muscle biopsies and then got interested in doing research and contacted Professor Everson (Tony) Pearse at Hammersmith Hospital, a pathologist with a special interest in enzyme histochemistry. He embarked on a study of enzyme histochemistry of normal and dystrophic muscle, completing an MD Thesis in 1960. He realized his heart was really in clinical medicine and paediatrics and successfully applied for a paediatric lectureship in Sheffield where he spent the next 13 years, becoming Reader in Child Health and Developmental Neurology, setting up a muscle unit and a basic research group and completing a PhD on the histochemistry of developing and diseased muscle. In 1973 he applied for the newly established Chair of Paediatrics and Neonatal Medicine at Hammersmith, and moved a large research group with him, ultimately creating the Jerry Lewis Muscle Research Labs, funded by the American MDA, on a hospital roof. He rapidly established an internationally recognized paediatric centre for Muscle Disease of clinicians and basic scientists, with a primary emphasis on the clinical management of patients and their long-term follow-up. In 1990 he established the multidisciplinary journal 'Neuromuscular Disorders' of which he remains Editor-in-Chief. In 1995 he founded the World Muscle Society, which aimed primarily at providing a forum for young researchers to present their work. Elected foundation President, he was re-elected every three years until the present (2017). Professor Dubowitz published his autobiography ('Ramblings of a Peripatetic Paediatrician') in 2005.The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity (no. 210183). The current interview has been funded by the Wellcome Trust Strategic Award entitled “Makers of modern biomedicine: testimonies and legacy” (2012-2017; awarded to Professor Tilli Tansey)
Dubowitz, Victor: transcript of a video interview (27-Sep-2016)
No full textInterview with Professor Victor Dubowitz, conducted by Professor Tilli Tansey, for the History of Modern Biomedicine Research Group, 27 September 2016, in the School of History, Queen Mary University of London. Transcribed by Mrs Debra Gee, and edited by Professor Tilli Tansey and Mr Alan Yabsley. The project management was undertaken by Mr Adam Wilkinson. Professor Victor Dubowitz BSc MB ChB MD PhD FRCP FRCPCH (b. 1931) graduated in medicine in Cape Town (1954), followed by residencies in medicine and surgery at Groote Schuur Hospital. He came to the UK in 1956 for 18 months to get broad clinical experience, exposure to culture, and planned to return to general practice in South Africa. A three-week locum at Queen Mary’s Hospital for Children (Carshalton, Surrey) exposed him to two wards with muscular dystrophy patients. Having come for three weeks he stayed for three years, initially as a Senior House Officer for a year, which he combined with doing muscle biopsies and then got interested in doing research and contacted Professor Everson (Tony) Pearse at Hammersmith Hospital, a pathologist with a special interest in enzyme histochemistry. He embarked on a study of enzyme histochemistry of normal and dystrophic muscle, completing an MD Thesis in 1960. He realized his heart was really in clinical medicine and paediatrics and successfully applied for a paediatric lectureship in Sheffield where he spent the next 13 years, becoming Reader in Child Health and Developmental Neurology, setting up a muscle unit and a basic research group and completing a PhD on the histochemistry of developing and diseased muscle. In 1973 he applied for the newly established Chair of Paediatrics and Neonatal Medicine at Hammersmith, and moved a large research group with him, ultimately creating the Jerry Lewis Muscle Research Labs, funded by the American MDA, on a hospital roof. He rapidly established an internationally recognized paediatric centre for Muscle Disease of clinicians and basic scientists, with a primary emphasis on the clinical management of patients and their long-term follow-up. In 1990 he established the multidisciplinary journal 'Neuromuscular Disorders' of which he remains Editor-in-Chief. In 1995 he founded the World Muscle Society, which aimed primarily at providing a forum for young researchers to present their work. Elected foundation President, he was re-elected every three years until the present (2017). Professor Dubowitz published his autobiography ('Ramblings of a Peripatetic Paediatrician') in 2005.The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity (no. 210183). The current interview has been funded by the Wellcome Trust Strategic Award entitled “Makers of modern biomedicine: testimonies and legacy” (2012-2017; awarded to Professor Tilli Tansey)
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
No full textWe recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness. The deletion removed the muscle promoter region and the first muscle exon, but not the brain or Purkinje-cell promoters. Dystrophin was detected immunocytochemically in the skeletal muscle from this family, despite the fact that the deletion eliminated the transcriptional start site of the muscle isoform. In order to determine which promoter was driving dystrophin transcription in skeletal muscle of these individuals, we first evaluated the expression of the exon 1 of muscle, brain, and Purkinje-cell isoforms in normal human skeletal and cardiac muscles and in mouse brain and cerebellum. Our data indicate that, with the exception of minimal expression of the brain isoform, only the muscle isoform is significantly transcribed in skeletal muscle, whereas both the exon 1 muscle and brain isoforms are highly expressed in cardiac muscle. In contrast to what is observed in normal muscle, the skeletal muscle of our patients showed expression of both the brain and the Purkinje-cell isoforms. The overexpression, in skeletal muscle, of these two isoforms thus appears to be of crucial importance in preventing a myopathy in these affected males. The reason for the severe cardiomyopathy remains speculative, in the absence of dystrophin data on their heart. However, we have found in the 5' end of intron 1, a region deleted in our cases, regulatory sequences that might be of importance for dystrophin expression in various tissues. It is also possible that the deletion present in this family affects specifically one of the two dystrophin actin-binding domains
author-bios-SRD-19-0063.R1 – Supplemental material for The Network Structure of Police Misconduct
No full textSupplemental material, author-bios-SRD-19-0063.R1 for The Network Structure of Police Misconduct by George Wood, Daria Roithmayr and Andrew V. Papachristos in Socius</p
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe 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
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
No full textAbstract Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a “Dubowitz-like” condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype
The BLISS cluster randomised controlled trial of the effect of 'active dissemination of information' on standards of care for premature babies in England (BEADI) study protocol [ISRCTN89683698].
No full textBACKGROUND: Gaps between research knowledge and practice have been consistently reported. Traditional ways of communicating information have limited impact on practice changes. Strategies to disseminate information need to be more interactive and based on techniques reported in systematic reviews of implementation of changes. There is a need for clarification as to which dissemination strategies work best to translate evidence into practice in neonatal units across England. The objective of this trial is to assess whether an innovative active strategy for the dissemination of neonatal research findings, recommendations, and national neonatal guidelines is more likely to lead to changes in policy and practice than the traditional (more passive) forms of dissemination in England. METHODS/DESIGN: Cluster randomised controlled trial of all neonatal units in England (randomised by hospital, n = 182 and stratified by neonatal regional networks and neonatal units level of care) to assess the relative effectiveness of active dissemination strategies on changes in local policies and practices. Participants will be mainly consultant lead clinicians in each unit. The intervention will be multifaceted using: audit and feedback; educational meetings for local staff (evidence-based lectures on selected topics, interactive workshop to examine current practice and draw up plans for change); and quality improvement and organisational changes methods. Policies and practice outcomes for the babies involved will be collected before and after the intervention. Outcomes will assess all premature babies born in England during a three month period for timing of surfactant administration at birth, temperature control at birth, and resuscitation team (qualification and numbers) present at birth
MANAGMENT ODONTOIATRICO DEL PAZIENTE AFFETTO DA SINDROME DI DUBOWITZ
No full textcopo della ricerca. La sindrome di Dubowitz, descritta per la prima volta nel 1965, è caratterizzata da anomalie multiple congenite, ritardo mentale, ritardo di crescita con difetti immunitari, che predispongono alle allergie e all'eczema alle neoplasie ematologiche e al neuroblastoma. I segni clinici comprendono un ritardo di crescita pre e postnatale, la microcefalia, il ritardo mentale lieve-medio e l'eczema. I pazienti sono spesso iperattivi, con scarsa capacità di attenzione. L'aspetto del viso è caratteristico con fronte alta e sfuggente, creste sopraorbitali piatte, sopracciglia rade nelle porzioni laterali, rime palpebrali corte, ptosi, orecchie a conformazione anomala, radice del naso ampia e piatta, conformazione insolita della bocca. Le anomalie dei genitali comprendono ipospadia e criptorchidismo. I pazienti possono anche mostrare fossetta sacrale, clinodattilia del V dito e sindattilia cutanea del secondo e terzo dito del piede. Ad oggi, sono stati osservati nel mondo, circa 150 pazienti con questa condizione. La patogenesi non è nota. Sembra trattarsi di una patologia con trasmissione a carattere autosomico recessivo (Tsukahara 2005). Materiali e metodi. Il nostro caso clinico, a seguito di revisione della letteratura, è descritto con l’inquadramento delle problematiche inerenti il complesso oro-facciale e viene proposto un approccio terapeutico; Risultati. Alla nostra osservazione è giunto un paziente (anni 22), con la Sdr. di Dubowitz il cui quadro clinico odontoiatrico è caratterizzato da policarie e malposizioni dentarie con cross bite bilaterale e lingua a carta geografica. All’anamnesi generale il paziente mostra un quadro allergico importante con problematiche respiratorie su base allergica, ed alterazioni cardiache. La terapia farmacologica comprende farmaci che assume giornalmente e farmaci d’emergenza tutti legati alle forme allergiche di cui è affetto. Conclusioni. La terapia del nostro paziente prevede il ricovero in day hospital, considerando il quadro di allergie presente. Il paziente è affetto da numerose carie dentarie penetranti e non ha mai eseguito anestesie dentarie. E’ necessario dunque un ambiente protetto che riduca al minimo i rischi dovuti alla patologia di base
Variations on the Author
No full text“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
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