Bibliografie tematiche / Leigh disease

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Letteratura scientifica selezionata sul tema "Leigh disease"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 9 febbraio 2022

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Articoli di riviste sul tema "Leigh disease"

Taccone, Agostino, Maia Di Rocco, Paola Fondelli e Franco Cottafava. "Leigh Disease". Journal of Computer Assisted Tomography 13, n. 2 (marzo 1989): 207–10. http://dx.doi.org/10.1097/00004728-198903000-00003.

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Coker, Steven B., e Chinnamma Thomas. "Connatal Leigh Disease". Clinical Pediatrics 34, n. 7 (luglio 1995): 349–52. http://dx.doi.org/10.1177/000992289503400702.

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Pronicka, Ewa. "Hypocapnic hypothesis of Leigh disease". Medical Hypotheses 101 (aprile 2017): 23–27. http://dx.doi.org/10.1016/j.mehy.2017.01.016.

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Geyer, Carl A., K. J. Sartor, A. J. Prensky, C. L. Abramson, F. J. Hodges e M. H. Gado. "Leigh Disease (Subacute Necrotizing Encephalomyelopathy)". Journal of Computer Assisted Tomography 12, n. 1 (gennaio 1988): 40–44. http://dx.doi.org/10.1097/00004728-198801000-00006.

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Malojcic, Branko, Vesna Brinar, Charles Poser e Visnja Djakovic. "An adult case of Leigh disease". Clinical Neurology and Neurosurgery 106, n. 3 (giugno 2004): 237–40. http://dx.doi.org/10.1016/j.clineuro.2004.02.028.

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Debray, François-Guillaume, Marie Lambert, Pierre Allard e Grant A. Mitchell. "Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome". Journal of Child Neurology 25, n. 8 (14 maggio 2010): 1000–1002. http://dx.doi.org/10.1177/0883073809351983.

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Wang, Mei, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A.-Ni Chi, Ya-Mei Xiao e Xiao-Yang Zhao. "Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice". PeerJ 5 (18 maggio 2017): e3339. http://dx.doi.org/10.7717/peerj.3339.

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Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot survive beyond child-bearing age, whether Ndufs4 and mitochondrial complex I influence early embryonic development remains unknown. In our study, we attempted to investigate embryonic development in Ndufs4 KO mice, which can be regarded as a Leigh disease model and were created through the CRISPR (clustered regularly interspaced short palindromic repeat) and Cas9 (CRISPR associated)-mediated genome editing system. Methods We first designed a single guide RNA (sgRNA) targeting exon 2 of Ndufs4 to delete the NDUFS4 protein in mouse embryos to mimic Leigh syndrome. Then, we described the phenotypes of our mouse model by forced swimming and the open-field test as well as by assessing other behavioral characteristics. Intracytoplasmic sperm injection (ICSI) was performed to obtain KO embryos to test the influence of NDUFS4 deletion on early embryonic development. Results In this study, we first generated Ndufs4 KO mice with physical and behavioral phenotypes similar to Leigh syndrome using the CRISPR/Cas9 system. The low developmental rate of KO embryos that were derived from knockout gametes indicated that the absence of NDUFS4 impaired the development of preimplantation embryos. Discussion In this paper, we first obtained Ndufs4 KO mice that could mimic Leigh syndrome using the CRISPR/Cas9 system. Then, we identified the role of NDUFS4 in early embryonic development, shedding light on its roles in the respiratory chain and fertility. Our model provides a useful tool with which to investigate the function of Ndufs4. Although the pathological mechanisms of the disease need to be discovered, it helps to understand the pathogenesis of NDUFS4 deficiency in mice and its effects on human diseases.

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Ng, Yi Shiau, Ming Lim, Gareth Thomas e Robert McFarland. "Teaching NeuroImages: Neuroradiologic evolution of Leigh disease". Neurology 87, n. 14 (3 ottobre 2016): e159-e160. http://dx.doi.org/10.1212/wnl.0000000000003182.

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Sonam, Kothari, P. S. Bindu, Narayanappa Gayathri, Nahid Akhtar Khan, C. Govindaraju, Hanumanthapura R. Arvinda, Madhu Nagappa, Sanjib Sinha, K. Thangaraj e Arun B. Taly. "The “Double Panda” Sign in Leigh Disease". Journal of Child Neurology 29, n. 7 (18 aprile 2013): 980–82. http://dx.doi.org/10.1177/0883073813484968.

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Paltiel, H. J., A. M. O'Gorman, K. Meagher-Villemure, B. Rosenblatt, K. Silver e G. V. Watters. "Subacute necrotizing encephalomyelopathy (Leigh disease): CT study." Radiology 162, n. 1 (gennaio 1987): 115–18. http://dx.doi.org/10.1148/radiology.162.1.3786750.

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Più fonti

Tesi sul tema "Leigh disease"

Worgan, Lisa Catherine Women &amp Children's Health UNSW. "The role of nuclear-encoded subunit genes in mitochondrial complex 1 deficiency". Awarded by:University of New South Wales. Women and Children's Health, 2005. http://handle.unsw.edu.au/1959.4/22307.

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BACKGROUND: Mitochondrial complex I deficiency often leads to a devastating neurodegenerative disorder of childhood. In most cases, the underlying genetic defect is unknown. Recessive nuclear gene mutations, rather than mitochondrial DNA mutations, account for the majority of cases. AIM: Our aim was to identify the genetic basis of complex I deficiency in 34 patients with isolated complex I deficiency, by studying six of the 39 nuclear encoded complex I subunit genes (NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS7 and NDUFS8). These genes have been conserved throughout evolution and carry out essential aspects of complex I function. METHODS: RNA was extracted from patient fibroblasts and cDNA made by reverse transcription. Overlapping amplicons that together spanned the entire coding area of each gene were amplified by PCR. The genes were screened for mutations using denaturing High Performance Liquid Chromatography (dHPLC). Patient samples with abnormal dHPLC profiles underwent direct DNA sequencing. RESULTS: Novel mutations were identified in six of 34 (18%) patients with isolated complex I deficiency. Five patients had two mutations identified and one patient had a single mutation in NDUFS4 identified. All patients with mutations had a progressive encephalopathy and five out of six had Leigh syndrome or Leigh like syndrome. Mutations were found in three nuclear encoded subunit genes, NDUFV1, NDUFS2 and NDUFS4. Three novel NDUFV1 mutations were identified (R386H, K111E and P252R). The R386H mutation was found in two apparently unrelated patients. Four novel NDUFS2 mutations were identified (R221X, M292T, R333Q and IVS9+4A<G). The novel NDUFS4 mutation c.221delC was found in two patients - one in homozygous form and the other heterozygous. Specific genotype and phenotype correlations were not identified. CONCLUSIONS: Nuclear encoded complex I subunit gene mutations are an important contributor to the aetiology of isolated complex I deficiency in childhood. Screening of these genes is an essential part of the investigation of complex I deficiency.

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Castro, Elenice de. "Informação em saúde para o público leigo: os âmbitos da produção e transferência de informação nas entidades de apoio a pacientes". Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/27/27151/tde-06052009-125805/.

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Estudo sobre o fenômeno dos grupos de apoio aos pacientes sob a ótica da Ciência da informação, tendo em vista as questões relacionadas ao acesso à informação e ao conhecimento no campo da saúde pública. O contexto preparatório da transição paradigmática da modernidade para a pós-modernidade tem como fenômeno inovador a ação dos grupos de apoio aos pacientes na promoção da saúde e da melhoria global da qualidade de vida, por meio de ações de informação. As ações desses grupos são observadas por meio de pesquisa empírica qualitativa. São investigadas de forma específica as fontes às quais recorrem os pacientes de doenças crônicas não transmissíveis para lidar com a incerteza. Os resultados de entrevistas com profissionais de saúde e pacientes reforçam a importância dos grupos e a confiança e solidariedade subjacentes a eles. Conclui-se que os pacientes recorrem em primeiro lugar ao médico quando necessitam de informação de alta confiabilidade, mas também aos enfermeiros, amigos e à mídia. Os resultados sugerem a necessidade de ampliação da operação pública dos grupos de apoio com vistas à promoção da saúde, ao acesso livre e aberto à informação científica transliterada em saúde pública. Sugerem também a necessidade de criação de sistemas de informação voltados especificamente para os mediadores dos grupos de apoio aos pacientes, segmento ainda não contemplado com dispositivos informacionais adequados de apoio ao desenvolvimento de suas ações.
Study on the phenomenon of the support groups for the patients under the optics of Information Science, with a view to the issues related to the information access and knowledge in public health; in the context of the paradigmatic transition of the modernism to post modernism, the support groups are considered as innovative input for patients under the standpoint of the support for the health promotion and the quality of life improvement. The research, a qualitative empirical survey, analyzes entities that promote support groups for patients of non communicable chronicle diseases, aims to identify which information sources the patients seek in order to deal with the uncertainty, and distress in face of the diagnosis of a chronicle disease. The results of the interviews with health professionals and patients show the importance of the groups and their character of confidence and underlying solidarity. It concludes that the patients consider physicians as their most important sources of information, but also ask the nurses, friends and the media for more information. The study suggests some parameters for the expansion of the public operation of the support groups with a view to the health promotion, to the free and open access to \"translated\" scientific information in public health. It suggests also that there is a lack of specific information systems to support the professionals that work as information intermediaries in such groups.

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Prokopová, Zuzana. "Využití canisterapie ke stimulaci osob se vzácným onemocněním". Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-356155.

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The aim of this thesis was to assess the influence of canistherapeutic intervention on the level of fine motor skills in patients with rare diseases, namely mitochondrial encephalocardiomyopathy caused by TMEM70 gene mutation and Leigh syndrome. Canistherapeutic intervention in these patients is based on activation of motoric functions during programme reasonably designed according to the needs of specific patients. The assistance of the dog is used to achieve this activation. The dog acts as an important motivational factor and the direct contact with it contributes to development of sensomotoric skills of these patients. The thesis summarizes general information about rare diseases and focuses on one of the subgroups of mitochondrial disorders. It presents knowledge about the Leigh syndrome and mitochondrial encephalocardiomyopathy caused by TMEM70 gene mutation. Subsequently the thesis presents information about canistherapy and fine motor skills. The thesis further contains case reports of patients, data from research units and their evaluation. The aim of the thesis was to find out whether patients with mitochondrial disease show improvement of quality and effectivity of selected grasp forms and thus faster and more precise execution assigned tasks focusing on object manipulations. Partial...

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Xavier, Beatriz de Oliveira. "Entre o fazer e o dever". Doctoral thesis, 2015. http://hdl.handle.net/10362/17040.

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A compreensão da ocorrência das doenças em termos de risco e o estabelecimento de relações com os chamados estilos de vida, colocam na experiência de doença um acréscimo de conotações morais, um dever de autodisciplina e responsabilidade. Estes princípios têm sido inúmeras vezes sublinhados nos discursos e políticas da Saúde Pública, nomeadamente no que concerne às doenças cardiovasculares pela importância epidemiológica, económica e social de que se revestem e consequente necessidade de redução da sua grande incidência na população, como é o caso de Portugal. A hipertensão, como doença crónica e fator de risco cardiovascular sujeita os doentes a controlo médico periódico, terapêutica farmacológica e impele a um comprometimento com comportamentos alimentares e exercício físico adequado. Através das entrevistas realizadas a doentes hipertensos utentes da consulta específica em Cuidados de Saúde Primários, verifica-se a presença de modos diversos de agir perante a circunstância de se ter hipertensão arterial, mostrando a presença de várias racionalidades, apreciações e valorações práticas dos comportamentos de saúde e doença e do próprio corpo. Para os doentes hipertensos entrevistados, a hipertensão arterial não é encarada como uma “verdadeira doença”, sendo vista sobretudo como resultado do envelhecimento e dos excessos que se acumularam no corpo, consequentes da própria vida. Nas narrativas de experiência de doença, os conceitos de moderação e equilíbrio, “ter cuidado”, parecem servir de mecanismo de operacionalização entre aquilo que são as recomendações médicas e as práticas individuais. Constatam-se as capacidades dos doentes hipertensos construírem para si formas de gestão da doença e do medo, sendo que os seus comportamentos podem passar por assumir o controlo dos fatores de risco ou ignorá-los. Em qualquer dos casos, as representações e ações relativas à hipertensão e às recomendações médicas a ela associadas integram-se nas práticas quotidianas dos doentes, ajustando-se a hábitos e representações instaladas, constituindo-se em modos distintos de agir dos doentes hipertensos.
Understanding the risk factors related to the onset of diseases and establishing associations with the so-called lifestyles add moral connotations, and a duty of selfdiscipline and responsibility to the illness experience. These principles have been repeatedly emphasized in Public Health discourses and policies, particularly regarding cardiovascular diseases. Those have a huge epidemiological, economic, and social impact, and is important reduce their high incidence in the population, as it is the case in Portugal. As a chronic illness and cardiovascular risk factor, hypertension forces patients to a regular medical control and pharmacological treatment, and impels them to commit to healthy eating and appropriate physical exercise. Based on interviews conducted to hypertensive patients in a specific consultation in Primary Health Care, different ways of managing hypertension were found, reflecting the existence of multiple rationalities, evaluations, and practical valuations of the health/disease behaviors and the body itself. The interviewed hypertensive patients consider that hypertension is not a “real disease”, as it is mainly seen as a consequence of the aging process and the excesses accumulated in the body as a result of life itself. In the narratives of the illness experience, the concepts of moderation and balance, “be careful”, seem to work as a mechanism to reconcile both medical recommendations and individual practices. This study shows that hypertensive patients have the ability to find their own ways of managing the illness and the fear, such as controlling the risk factors or ignoring them. In any case, the representations and practices of hypertension and associated medical recommendations are integrated into the patients’ daily practices, adjusting themselves to habits and representations already in place, and reflecting the different behaviors of hypertensive patients.

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Libri sul tema "Leigh disease"

Rahman, Shamima, e Mirian C. H. Janssen. Coenzyme Q10 Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0011.

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Primary CoQ10 deficiencies are usually diagnosed in childhood, but late-onset forms are recognized. The expression of all clinical symptoms is extremely variable, but six major phenotypes are recognized: (1) encephalomyopathy, seizures, and ataxia; (2) infantile-onset multisystem disease; (3) cerebellar ataxia; (4) isolated myopathy; (5) Leigh syndrome; and (6) isolated nephrotic syndrome. Early treatment with exogenous CoQ10 supplementation may result in a good outcome.

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Firth, Helen V., e Jane A. Hurst. Common consultations. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0003.

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This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.

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Welte, Robert. Methodological Advances in the Economic Evaluation of Infectious Disease Prevention: The Case of Chlamydial Screening and Meningococcal C Vaccination (Europaische ... Reihe V, Volks- Und Betriebswirtschaft). Peter Lang Publishing, 2007.

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Methodological Advances in the Economic Evaluation of Infectious Disease Prevention: The Case of Chlamydial Screening and Meningococcal C Vaccination (Europaische ... Reihe V, Volks- Und Betriebswirtschaft). Peter Lang Publishing, 2007.

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Capitoli di libri sul tema "Leigh disease"

Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta et al. "Leigh Disease". In Encyclopedia of Molecular Mechanisms of Disease, 1151–52. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6050.

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Pomales-Ramos, Anamiguel. "Leigh Disease". In Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_102083-1.

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Pomales-Ramos, Anamiguel. "Leigh Disease". In Encyclopedia of Autism Spectrum Disorders, 2694–95. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_102083.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta et al. "Leigh Syndrome". In Encyclopedia of Molecular Mechanisms of Disease, 1152–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1029.

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Distelmaier, Felix, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava, Ertan Mayatepek, Jürgen Kohlhase e Michael Karenfort. "Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome". In JIMD Reports, 53–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_271.

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Wetherall-Dickson, Leigh. "Syphilis and Sociability". In The Male Body in Medicine and Literature, 177–93. Liverpool University Press, 2018. http://dx.doi.org/10.3828/liverpool/9781786940520.003.0011.

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This essay considers the stain on one’s position within civil society represented by venereal disease. Drawing on the diaries of Boswell – for whom regular doses of syphilis seem to have been regarded as an amatory hazard – and Neville, the essay explores the increasing prominence and importance of the sphere of sociable intercourse in the eighteenth century, which necessitates, for Boswell at least, a clear division between his private selfhood and conduct and his public demeanour. In contrast, Neville’s episodes of the pox seem to have exacerbated his incipient paranoia and annoyance with a world around him that refuses to acknowledge his gentlemanly qualities. Both men’s reaction to their condition as related through their diaries reveals for Leigh Wetherall-Dickson a shifting notion of private identity formed in response to the relatively new phenomenon of sociable intercourse.

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Martino, Angelo, Edgar Badell, Nathalie Winter, Mélanie Charmoy, Geneviève Milon e Fabienne Tacchini-Cottier. "Role of Neutrophils in the Early Shaping of the Leishmania major Specific Immune Response in Experimental Murine Cutaneous Leish". In Neutrophils in Infectious Diseases, 49–58. BENTHAM SCIENCE PUBLISHERS, 2012. http://dx.doi.org/10.2174/978160805023911101010049.

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