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Guillain-Barré syndrome and SARS-CoV-2
Dergi Makalesi

Dergi Makalesi
Open Access
Kaynak :
Directory of Open Access Journals (DOAJ)
Dergi:
Neurological Research and Practice
Yazar(lar) :
Anne Lampe , Alexander Winschel , Cornelie Lang , Thorsten Steiner
Yıl :
2020
Anne Lampe
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet Alıntıla
Abstract Since January 2020, after Chinese health authorities identified a new type of coronavirus (SARS-CoV-2), the virus has spread throughout China and consecutively throughout the whole world. The most common symptoms include fever and respiratory tract symptoms. Nevertheless, some patients show less common symptoms such as gastrointestinal or neurological manifestations. This article presents the case of a 65-years old man who was presumptively infected with SARS-CoV-2 during his ski vacation in Austria in March 2020 and acutely presented with typical symptoms of Guillain-Barré syndrome.
DOI : 10.1186/s42466-020-00066-0
Anahtar Kelimeler : Guillain-Barré syndrome, COVID-19, SARS-CoV-2
ISSN: 2524-3489
Cilt: 2
Sayı: 1
Sayfa: 1 - 3
Sınıflandırma :
2
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
Science Direct
Dergi:
European Journal of Medical Genetics
Yayıncı:
Elsevier
Yazar(lar) :
Mira Kharbanda , Kaja Kannike , Anne Lampe , Jonathan Berg , Tõnis Timmusk , Mari Sepp
Yıl :
2016
Anne Lampe
Yayıncı Web Sitesi
Tam Metin
Kaydet Alıntıla
Mutations in TCF4 (basic helix-loop-helix transcription factor 4), a gene with complex organization and multiple transcription initiation sites, are usually associated with Pitt-Hopkins syndrome (PTHS). However, a translocation encompassing the 5′ end of TCF4 and several point mutations have been linked to non-syndromic intellectual disability (NSID). Here we describe a family with autosomal dominantly inherited NSID in seven relatives with a partial deletion of TCF4, disrupting the 5′ end of the gene, predicted to result in the reduction of the number of mRNAs that can be produced by alternative transcription initiation. Functional studies indicate that it leads to reduced levels of transcripts coding for TCF4 protein isoforms with a nuclear localization signal, which may be relevant to the phenotype. The findings in our family support the notion that the position of the mutation in TCF4 is relevant to the phenotype, with those mutations in the 5′ region, cassette exons and regions not affecting the important functional domains being linked to NSID rather than PTHS. We suggest that screening for mutations in TCF4 could be considered in the investigation of NSID.
DOI : 10.1016/j.ejmg.2016.04.003
Anahtar Kelimeler : TCF4, Non-syndromic intellectual disability, Pitt-Hopkins syndrome, Alternative transcription
ISSN: 1769-7212
Sayı: 6-7
Cilt: 59
Sayfa: 310-314
Sınıflandırma :
3
Papillorenal syndrome in a family with unusual complications
Dergi Makalesi

Dergi Makalesi
Kaynak :
The BMJ
Dergi:
British Journal of Ophthalmology
Yazar(lar) :
Roly D Megaw , Anne Lampe , Baljean Dhillon , Shigeo Yoshida , Alan F Wright
Yıl :
2013
Anne Lampe
Yayıncı Web Sitesi
Tam Metin
Kaydet Alıntıla
DOI : 10.1136/bjophthalmol-2013-303122
ISSN: 0007-1161
Sayı: 7
Cilt: 97
Sayfa: 945-946
4
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
Dergi Makalesi

Dergi Makalesi
Kaynak :
Science Direct
Dergi:
Neuromuscular Disorders
Yayıncı:
Elsevier
Yazar(lar) :
Eugenio Mercuri , Anne Lampe , Joanna Allsop , Ravi Knight , Marika Pane , Maria Kinali , Carsten Bonnemann , Kevin Flanigan , Ilaria Lapini , Kate Bushby , Guglielmina Pepe , Francesco Muntoni
Yıl :
2005
Anne Lampe
Yayıncı Web Sitesi
Tam Metin
Kaydet Alıntıla
The aim of this study was to evaluate the spectrum of muscle involvement on Magnetic Resonance Imaging (MRI) in patients with collagen VI related disorders. Nineteen patients with genetically confirmed collagen VI related disorders, 10 with Bethlem myopathy and 9 with Ullrich congenital muscular dystrophy (CMD), had muscle MRI of their legs using T1 sequences through calves and thighs. In patients with Bethlem myopathy the vasti muscles appeared to be the most frequently and most strikingly affected thigh muscles, with a rim of abnormal signal at the periphery of each muscle and relative sparing of the central part. Another frequent finding was the presence of a peculiar involvement of the rectus femoris with a central area of abnormal signal within the muscle. Patients with Ullrich CMD had a more diffuse involvement of the thigh muscles with relative sparing of sartorius, gracilis and adductor longus. In 8 of the 9 patients with Ullrich CMD, we also observed the peripheral rim of the vastus lateralis and the central area in the rectus femoris observed in patients with Bethlem myopathy. At calf level the results were more variable but a significant proportion of patients with both Bethlem myopathy (8/10) and Ullrich CMD (6/9) showed a rim of abnormal signal at the periphery of soleus and gastrocnemii. Bethlem myopathy and Ullrich CMD patients have distinct patterns of muscle involvement on MRI with some overlap between the two forms. Our results suggest that muscle MR may be used, as an additional tool, to identify patients with collagen VI related disorders. This information is even more important in the patients with a typical Ullrich CMD clinical phenotype but with normal collagen expression of VI in muscle and/or skin.
DOI : 10.1016/j.nmd.2005.01.004
Anahtar Kelimeler : Collagen, Ullrich, Bethlem, Muscle MRI
ISSN: 0960-8966
Sayı: 4
Cilt: 15
Sayfa: 303-310
Sınıflandırma :
5
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
Prenatal Diagnosis
Yazar(lar) :
Martin Brockington , Susan C. Brown , Anne Lampe , Yeliz Yuva , Lucy Feng , Cecilia Jimenez-Mallebrera , Caroline A. Sewry , Kevin M. Flanigan , Kate Bushby , Francesco Muntoni
Konu :
Obstetrics and Gynaecology, Genetics(clinical)
Yıl :
2004
Anne Lampe
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Tam Metin
Kaydet Alıntıla
DOI : 10.1002/pd.902
ISSN: 0197-3851
Sayı: 6
Cilt: 24
Sayfa: 440-444
6
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland
Dergi Makalesi

Dergi Makalesi
Kaynak :
Springer Link
Dergi:
Journal of Community Genetics
Yazar(lar) :
Michael Abbott , Lynda McKenzie , Blanca Viridiana Guizar Moran , Sebastian Heidenreich , Rodolfo Hernández , Lynne Hocking-Mennie , Caroline Clark , Joana Gomes , Anne Lampe , David Baty , Ruth McGowan , Zosia Miedzybrodzka , Mandy Ryan
Konu :
Genetics(clinical), Public Health, Environmental and Occupational Health, Epidemiology
Yıl :
2021
Anne Lampe
Yayıncı Web Sitesi
Tam Metin
Kaydet Alıntıla
Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.
DOI : 10.1007/s12687-021-00541-4
Anahtar Kelimeler : Whole genome sequencing, Diagnostic odyssey, Costs and benefits, Economic evaluation, Valuation
ISSN: 1868-310X 1868-6001
7
Mutation update for the PORCN gene
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
Human Mutation
Yazar(lar) :
Maria Paola Lombardi , Saskia Bulk , Jacopo Celli , Anne Lampe , Michael T. Gabbett , Lillian Bomme Ousager , Jasper J. van der Smagt , Maria Soller , Eva-Lena Stattin , Marcel A.M.M. Mannens , Robert Smigiel , Raoul C. Hennekam
Konu :
Genetics(clinical), Genetics
Yıl :
2011
Anne Lampe
Yayıncı Web Sitesi
Tam Metin
Kaydet Alıntıla
Mutations in the PORCN gene were first identified in Goltz‐Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz‐Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb‐Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web‐based locus‐specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz‐Gorlin syndrome patients. Hum Mutat 32:1–6, 2011. © 2011 Wiley‐Liss, Inc.
DOI : 10.1002/humu.21505
ISSN: 1059-7794
Sayı: 7
Cilt: 32
Sayfa: 723-728

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