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  1. Article ; Online: The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy

    Georgina Morton / Sophie Thomas / Pat Roberts / Vivienne Clark / Jackie Imrie / Alexandra Morrison

    Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-

    results of a Caregiver Survey in the UK and Republic of Ireland

    2022  Volume 13

    Abstract: Abstract Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and severe decline in cognitive function, ... ...

    Abstract Abstract Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and severe decline in cognitive function, leading to premature death. Early diagnosis of MLD provides the opportunity to begin treatment before the disease progresses and causes severe disability. MLD is not currently included in newborn screening (NBS) in the UK. This study consisted of an online survey, and follow-up semi-structured interviews open to MLD patients or caregivers, aged 18 years and over. The aims of the study were to understand the importance of early diagnosis and to establish the views of families and caregivers of patients with MLD on NBS. A total of 24 patients took part in the survey, representing 20 families (two families had two children with MLD, one family had three children with MLD). Following on from the survey, six parents participated in the interviews. Our data showed diagnostic delay from first symptoms was between 0 and 3 years, with a median of 1 year (n = 18); during this time deterioration was rapid, especially in earlier onset MLD. In patients with late infantile MLD (n = 10), 50% were wheelchair dependent, 30% were unable to speak, and 50% were tube fed when a diagnosis of MLD was confirmed. In patients with early juvenile MLD (n = 5), over half used a wheelchair some of the time, had uncontrollable crying, and difficulty speaking (all 60%) before or at the time of diagnosis. A high degree of support was expressed for NBS among caregivers, 95% described it as very or extremely important and 86% believed detection of MLD at birth would have changed their child’s future. One parent expressed their gratitude for an early diagnosis as a result of familial MLD screening offered at birth and how it had changed their child’s future: “It did and it absolutely has I will be forever grateful for his early diagnosis thanks to his older sister.” The rapid rate of deterioration in ...
    Keywords Metachromatic leukodystrophy (MLD) ; Newborn screening (NBS) ; Inborn errors of metabolism ; Diagnostic delay ; Gene therapy ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2022-11-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA

    Bob Stevens / Tom Kenny / Sophie Thomas / Alexandra Morrison / James Jarrett / Mohit Jain

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    insights from the first managed access agreement

    2021  Volume 8

    Abstract: Abstract Managed access agreements provide a crucial mechanism whereby real-world data can be collected systematically to reduce uncertainty around available clinical and economic data, whilst providing the opportunity to identify patient sub-populations ...

    Abstract Abstract Managed access agreements provide a crucial mechanism whereby real-world data can be collected systematically to reduce uncertainty around available clinical and economic data, whilst providing the opportunity to identify patient sub-populations who are most likely to benefit from a new treatment. This manuscript aims to share learnings from the first managed access agreement, which was initiated following positive conditional approval in 2015 from the National Institute for Health and Care Excellence (NICE) for elosulfase alfa, an enzyme replacement therapy for the treatment of mucopolysaccharidosis type IVA (MPS IVA). This managed access agreement enabled the collection of comprehensive real-world data for patients with MPS IVA, with results demonstrating that patients starting elosulfase alfa treatment showed gains similar to those seen in the pivotal trial for outcomes including endurance, respiratory and cardiac function, pain, quality of life measures and urinary keratan sulfate levels. In addition, former trial patients continued to see benefits in both clinical assessments and quality of life/activities of daily living nine years after beginning treatment. Key strengths of the process included recruitment of a high proportion of MPS IVA patients treated in England (72/89 known eligible patients) with a wide range of ages (2–58 years). Participation of a patient organisation (the MPS society) ensured that the patient voice was present throughout the process, whilst a contract research organisation (Rare Disease Research Partners) ensured that patients were represented when interpreting agreement criteria and during patient assessment meetings. Longer-term follow-up will be required for several MPS IVA outcomes (e.g. skeletal measures) to further reduce uncertainty, and continued follow-up of patients who had stopped treatment was found to be challenging. The burden associated with this managed access agreement was found to be high for patients, physicians, patient organisations, NHS England and the manufacturer, therefore costs and benefits of future agreements should be considered carefully before initiation. Through evaluation of the strengths and limitations of this process, it is hoped that learnings from this managed access agreement can be used to inform future agreements.
    Keywords Managed access agreement ; Mucopolysaccharidosis type IVA ; Morquio A ; Elosulfase alfa ; Medicine ; R
    Subject code 616
    Language English
    Publishing date 2021-09-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Gastrointestinal Manifestations in Mucopolysaccharidosis Type III

    Sophie Thomas / Uma Ramaswami / Maureen Cleary / Medeah Yaqub / Eva M. Raebel

    Journal of Clinical Medicine, Vol 10, Iss 4445, p

    Review of Death Certificates and the Literature

    2021  Volume 4445

    Abstract: Background: Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a life-limiting recessive lysosomal storage disorder caused by a deficiency in the enzymes involved in degrading glycosaminoglycan heparan sulfate. MPS III is characterized by ... ...

    Abstract Background: Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a life-limiting recessive lysosomal storage disorder caused by a deficiency in the enzymes involved in degrading glycosaminoglycan heparan sulfate. MPS III is characterized by progressive deterioration of the central nervous system. Respiratory tract infections have been reported as frequent and as the most common cause of death, but gastrointestinal (GI) manifestations have not been acknowledged as a cause of concern. The aim of this study was to determine the incidence of GI problems as a primary cause of death and to review GI symptoms reported in published studies. Methods: Causes of death from 221 UK death certificates (1957–2020) were reviewed and the literature was searched to ascertain reported GI symptoms. Results: GI manifestations were listed in 5.9% ( n = 13) of death certificates. Median (IQR) age at death was 16.7 (5.3) years. Causes of death included GI failure, GI bleed, haemorrhagic pancreatitis, perforation due to gastrostomies, paralytic ileus and emaciation. Twenty-one GI conditions were reported in 30 studies, mostly related to functional GI disorders, including diarrhoea, dysphagia, constipation, faecal incontinence, abdominal pain/distension and cachexia. Conclusions: GI manifestations may be an under-recognized but important clinical feature of MPS III. Early recognition of GI symptoms and timely interventions is an important part of the management of MPS III patients.
    Keywords mucopolysaccharidosis ; Sanfilippo syndrome ; mortality ; gastrointestinal ; Medicine ; R
    Subject code 150
    Language English
    Publishing date 2021-09-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
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  4. Article ; Online: Assessment of Lab4P Probiotic Effects on Cognition in 3xTg-AD Alzheimer’s Disease Model Mice and the SH-SY5Y Neuronal Cell Line

    Thomas S. Webberley / Ryan J. Bevan / Joshua Kerry-Smith / Jordanna Dally / Daryn R. Michael / Sophie Thomas / Meg Rees / James E. Morgan / Julian R. Marchesi / Mark A. Good / Sue F. Plummer / Duolao Wang / Timothy R. Hughes

    International Journal of Molecular Sciences, Vol 24, Iss 4683, p

    2023  Volume 4683

    Abstract: Aging and metabolic syndrome are associated with neurodegenerative pathologies including Alzheimer’s disease (AD) and there is growing interest in the prophylactic potential of probiotic bacteria in this area. In this study, we assessed the ... ...

    Abstract Aging and metabolic syndrome are associated with neurodegenerative pathologies including Alzheimer’s disease (AD) and there is growing interest in the prophylactic potential of probiotic bacteria in this area. In this study, we assessed the neuroprotective potential of the Lab4P probiotic consortium in both age and metabolically challenged 3xTg-AD mice and in human SH-SY5Y cell culture models of neurodegeneration. In mice, supplementation prevented disease-associated deteriorations in novel object recognition, hippocampal neurone spine density (particularly thin spines) and mRNA expression in hippocampal tissue implying an anti-inflammatory impact of the probiotic, more notably in the metabolically challenged setting. In differentiated human SH-SY5Y neurones challenged with β-Amyloid, probiotic metabolites elicited a neuroprotective capability. Taken together, the results highlight Lab4P as a potential neuroprotective agent and provide compelling support for additional studies in animal models of other neurodegenerative conditions and human studies.
    Keywords Alzheimer’s disease ; cognition ; neurodegeneration ; probiotics ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Language English
    Publishing date 2023-02-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Acceptance and commitment therapy for young brain tumour survivors

    Louise Hayes / Stephen Lowis / Faith Gibson / Sophie Thomas / Jenny Limond / Simon Bailey / Steven C Clifford / Sam Malins / Ray Owen / Ingram Wright / Heather Borrill / James Lemon

    BMJ Open, Vol 11, Iss

    study protocol for an acceptability and feasibility trial

    2021  Volume 6

    Abstract: Introduction Survivors of childhood brain tumours have the poorest health-related quality of life of all cancer survivors due to the multiple physical and psychological sequelae of brain tumours and their treatment. Remotely delivered acceptance and ... ...

    Abstract Introduction Survivors of childhood brain tumours have the poorest health-related quality of life of all cancer survivors due to the multiple physical and psychological sequelae of brain tumours and their treatment. Remotely delivered acceptance and commitment therapy (ACT) may be a suitable and accessible psychological intervention to support young people who have survived brain tumours. This study aims to assess the feasibility and acceptability of remotely delivered ACT to improve quality of life among these young survivors.Methods and analysis This study is a two-arm, parallel group, randomised controlled trial comparing ACT with waitlist control at 12-week follow-up as the primary endpoint. Seventy-two participants will be recruited, who are aged 11–24 and have completed brain tumour treatment. Participants will be randomised to receive 12 weeks of ACT either immediately or after a 12-week wait. The DNA-v model of ACT will be employed, which is a developmentally appropriate model for young people. Feasibility will be assessed using the proportion of those showing interest who consent to the trial and complete the intervention. Acceptability will be assessed using participant evaluations of the intervention, alongside qualitative interviews and treatment diaries analysed thematically. A range of clinical outcome measures will also assess physical and mental health, everyday functioning, quality of life and service usage at 12-week follow-up. The durability of treatment effects will be assessed by further follow-up assessments at 24 weeks, 36 weeks and 48 weeks.Ethics and dissemination Ethical approval was given by East Midlands, Nottingham 1 Research Ethics Committee (Reference: 20/EM/0237). Study results will be disseminated in peer-reviewed journals, through public events and relevant third sector organisations.Trial registration ISRCTN10903290; NCT04722237.
    Keywords Medicine ; R
    Subject code 170
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher BMJ Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article: NBS-LRR-mediated resistance triggered by aphids: viruses do not adapt; aphids adapt via different mechanisms

    Boissot, Nathalie / Hervé Lecoq / Sophie Thomas / Véronique Chovelon

    BMC plant biology. 2016 Dec., v. 16, no. 1

    2016  

    Abstract: BACKGROUND: Aphids are serious pest on crops. By probing with their stylets, they interact with the plant, they vector viruses and when they reach the phloem they start a continuous ingestion. Many plant resistances to aphids have been identified, ... ...

    Abstract BACKGROUND: Aphids are serious pest on crops. By probing with their stylets, they interact with the plant, they vector viruses and when they reach the phloem they start a continuous ingestion. Many plant resistances to aphids have been identified, several have been deployed. However, some resistances breaking down have been observed. In the melon, a gene that confers resistance to aphids has been deployed in some melon-producing areas, and aphid colony development on Vat-carrying plants has been observed in certain agrosystems. The Vat gene is a NBS-LRR gene that confers resistance to the aphid species Aphis gossypii and exhibits the unusual characteristic of also conferring resistance to non-persistently transmitted viruses when they are inoculated by the aphid. Thus, we characterized patterns of resistance to aphid and virus using the aphid diversity and we investigated the mechanisms by which aphids and viruses may adapt to the Vat gene. RESULTS: Using a Vat-transgenic line built in a susceptible background, we described the Vat- spectrum of resistance to aphids, and resistance to viruses triggered by aphids using a set of six A. gossypii biotypes. Discrepancies between both resistance phenotypes revealed that aphid adaptation to Vat-mediated resistance does not occur only via avirulence factor alterations but also via adaptation to elicited defenses. In experiments conducted with three virus species serially inoculated by aphids from and to Vat plants, the viruses did not evolve to circumvent Vat-mediated resistance. We confirmed discrepancies between both resistance phenotypes by testing each aphid biotype with a set of thirteen melon accessions chosen to reflect the natural diversity of the melon. Inheritance studies revealed that patterns of resistance to virus triggered by aphids are controlled by different alleles at the Vat locus and at least another locus located at a short genetic distance. Therefore, resistance to viruses triggered by aphids is controlled by a gene cluster. CONCLUSIONS: Under the Flor model, changes in the avirulence gene determine the ability of the pathogen to overcome the resistance conferred by a plant gene. The Vat gene belongs to a resistance gene family that fits this pest/pathogen–plant interaction, and we revealed an additional mechanism of aphid adaptation that potentially exists in other interactions between plants and pests or pathogens.
    Keywords alleles ; Aphis gossypii ; biotypes ; crops ; genetic distance ; ingestion ; inheritance (genetics) ; loci ; melons ; models ; multigene family ; pathogens ; phenotype ; phloem ; plant pests ; stylets ; viruses
    Language English
    Dates of publication 2016-12
    Size p. 25.
    Publishing place BioMed Central
    Document type Article
    ISSN 1471-2229
    DOI 10.1186/s12870-016-0708-5
    Database NAL-Catalogue (AGRICOLA)

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  7. Article: Prioritising islands in the United Kingdom and crown dependencies for the eradication of invasive alien vertebrates and rodent biosecurity

    Stanbury, Andrew / Andy Brown / David Bullock / James Aegerter / Leigh Lock / Mark Eaton / Richard Luxmoore / Sophie Thomas / Stan Whitaker / Steffen Oppel / Sugoto Roy

    European journal of wildlife research. 2017 Feb., v. 63, no. 1

    2017  

    Abstract: Invasive alien vertebrates (IAVs) pose a significant threat to island biodiversity worldwide, and their removal is an important nature conservation management goal. As methods advance, eradications from larger islands and of multiple species ... ...

    Abstract Invasive alien vertebrates (IAVs) pose a significant threat to island biodiversity worldwide, and their removal is an important nature conservation management goal. As methods advance, eradications from larger islands and of multiple species simultaneously are increasingly undertaken. Effective targeting to maximise conservation gain is important given limited resources. We build on existing prioritisation methods and use the islands of the UK and Crown Dependencies (UK) as an example of how vertebrate eradications might be prioritised and invasive-free status maintained through biosecurity. For each of the 9688 UK islands, we assessed ecological importance for native vertebrates and the anticipated impacts of the IAVs present to estimate the benefit of restoration based on the feasibility and sustainability of IAV eradications in relation to island size, human population and risk of unassisted reinvasion by swimming. As reinvasion poses a threat to the long-term benefits of eradication, we incorporated species-specific swimming distances and explored the effects of varying reinvasion probability from risk-averse to higher-risk strategies. The 25 islands that would benefit most from eradications were in Scotland, Northern Ireland and the Channel Islands. Our prioritisation method should be seen as an initial guide to identify islands that might benefit from intervention when faced with a large list of potential sites. Feasibility studies taking account of factors such as interspecific interactions, anthropogenic reinvasion, views of residents or ‘social feasibility’ and cost need to be undertaken before planning any eradication. We prioritised biosecurity for rat-free islands to highlight where comprehensive measures might be most beneficial.
    Keywords biodiversity ; biosecurity ; feasibility studies ; human population ; invasive species ; islands ; natural resources conservation ; planning ; prioritization ; risk ; rodents ; swimming ; Northern Ireland ; Scotland
    Language English
    Dates of publication 2017-02
    Size p. 31.
    Publishing place Springer Berlin Heidelberg
    Document type Article
    ZDB-ID 2141660-6
    ISSN 1439-0574 ; 1612-4642
    ISSN (online) 1439-0574
    ISSN 1612-4642
    DOI 10.1007/s10344-017-1084-7
    Database NAL-Catalogue (AGRICOLA)

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    Z 1483: Show issues

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  8. Article ; Online: Recommendations for the management of MPS IVA

    Mehmet Umut Akyol / Tord D. Alden / Hernan Amartino / Jane Ashworth / Kumar Belani / Kenneth I. Berger / Andrea Borgo / Elizabeth Braunlin / Yoshikatsu Eto / Jeffrey I. Gold / Andrea Jester / Simon A. Jones / Cengiz Karsli / William Mackenzie / Diane Ruschel Marinho / Andrew McFadyen / Jim McGill / John J. Mitchell / Joseph Muenzer /
    Torayuki Okuyama / Paul J. Orchard / Bob Stevens / Sophie Thomas / Robert Walker / Robert Wynn / Roberto Giugliani / Paul Harmatz / Christian Hendriksz / Maurizio Scarpa / MPS Consensus Programme Steering Committee / MPS Consensus Programme Co-Chairs

    Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-

    systematic evidence- and consensus-based guidance

    2019  Volume 25

    Abstract: Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of ... ...

    Abstract Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny. This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA. Methods Twenty six international healthcare professionals across multiple disciplines, with expertise in managing MPS IVA, and three patient advocates formed the Steering Committee (SC) and contributed to the development of this guidance. Representatives from six Patient Advocacy Groups (PAGs) were interviewed to gain insights on patient perspectives. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with experience managing patients with MPS IVA and the manuscript was evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results A total of 87 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) disease-modifying interventions (enzyme replacement therapy [ERT] and haematopoietic stem cell transplantation [HSCT]); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions (including spinal, limb, ophthalmic, cardio-thoracic and ear-nose-throat [ENT] surgeries). Consensus was reached on all statements after two rounds of voting. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance). Conclusion This manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS IVA and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps.
    Keywords Morquio a syndrome ; Mucopolysaccharidosis ; MPS IVA ; Management guidelines ; Elosulfase alfa ; VIMIZIM ; Medicine ; R
    Language English
    Publishing date 2019-06-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Recommendations for the management of MPS VI

    Mehmet Umut Akyol / Tord D. Alden / Hernan Amartino / Jane Ashworth / Kumar Belani / Kenneth I. Berger / Andrea Borgo / Elizabeth Braunlin / Yoshikatsu Eto / Jeffrey I. Gold / Andrea Jester / Simon A. Jones / Cengiz Karsli / William Mackenzie / Diane Ruschel Marinho / Andrew McFadyen / Jim McGill / John J. Mitchell / Joseph Muenzer /
    Torayuki Okuyama / Paul J. Orchard / Bob Stevens / Sophie Thomas / Robert Walker / Robert Wynn / Roberto Giugliani / Paul Harmatz / Christian Hendriksz / Maurizio Scarpa / MPS Consensus Programme Steering Committee / MPS Consensus Programme Co-Chairs

    Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-

    systematic evidence- and consensus-based guidance

    2019  Volume 21

    Abstract: Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive ... ...

    Abstract Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 ...
    Keywords Maroteaux-Lamy syndrome ; Mucopolysaccharidosis ; MPS VI ; Management guidelines ; Galsulfase ; Enzyme replacement therapy ; Medicine ; R
    Subject code 306
    Language English
    Publishing date 2019-05-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article: Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Lee, Jeong Ho / Anna Rajab / Bill H. Diplas / C. Geoffrey Woods / Carsten Russ / Christopher P. Bennett / Clare V. Logan / Colin A. Johnson / Elizabeth R. Waters / Enza Maria Valente / Erica E. Davis / Francesco Brancati / Friedhelm Hildebrandt / Jennifer L. Silhavy / Ji Eun Lee / Joseph G. Gleeson / Kiley J. Hill / Laszlo Sztriha / Lihadh Al-Gazali /
    Maha S. Zaki / Masumi Abe / Miriam Iannicelli / Nicholas Katsanis / Roshan Koul / Saghira Malik Sharif / Sophie Thomas / Stacey B. Gabriel / Stephanie L. Bielas / Susan Ferro-Novick / Tania Attié-Bitach

    Science. 2012 Feb. 24, v. 335, no. 6071

    2012  

    Abstract: Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically ... ...

    Abstract Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements.
    Keywords chromosome aberrations ; cilia ; evolution ; humans ; intergenic DNA ; loci ; multigene family ; mutation ; regulatory sequences ; sequence homology
    Language English
    Dates of publication 2012-0224
    Size p. 966-969.
    Publishing place American Association for the Advancement of Science
    Document type Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1213506
    Database NAL-Catalogue (AGRICOLA)

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