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  1. Article ; Online: How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?

    Rowczenio, Dorota M / Lachmann, Helen J

    Presse medicale (Paris, France : 1983)

    2019  Volume 48, Issue 1 Pt 2, Page(s) e49–e59

    Abstract: The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and apoptosis pathways. The spectrum of SAIDs continues to grow with over 30 different disorders ... ...

    Abstract The systemic autoinflammatory disorders (SAIDs) are associated with dysregulation of the innate immune system, affecting pro-inflammatory cytokines and apoptosis pathways. The spectrum of SAIDs continues to grow with over 30 different disorders identified to date. The main indication for genetic referral is when a patient presents with clinical symptoms consistent with one or more of the SAIDs. Thus, in making a referral for DNA screening, clinical information that supports the choice for screening of one or more SAIDs genes is required. Many of the SAIDs can display overlapping, partial or atypical symptoms, which makes the differential diagnosis extremely difficult and thus heavily dependent on genetic testing. Various attempts have been aimed at improving the efficiency of SAIDs diagnosis by proposing a set of clinical criteria to guide the genetic analysis of the SAIDs. In the last decade, due to application of the next-generation sequencing (NGS) the genetic diagnosis in patients with SAIDs have greatly improved; novel diseases and disease-associated genes have been identified and remarkable progress has been made in the genetic characterization of the undiagnosed patients and the sporadic cases. To date more than 800 variants have been recorded on the Infevers database, an online repository for DNA changes in genes associated with SAIDs (http://fmf.igh.cnrs.fr/ISSAID/infevers/). Recently, it has been updated with the new guidelines for classification of genetic variants pathogenicity in the in four most recognised SAIDs genes: MEFV, TNFRSF1A, NLRP3 and MVK.
    MeSH term(s) Databases, Genetic ; Diagnosis, Differential ; Forecasting ; Genetic Testing ; Hereditary Autoinflammatory Diseases/classification ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Molecular Diagnostic Techniques
    Language English
    Publishing date 2019-01-18
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 120943-7
    ISSN 2213-0276 ; 0032-7867 ; 0755-4982 ; 0301-1518
    ISSN (online) 2213-0276
    ISSN 0032-7867 ; 0755-4982 ; 0301-1518
    DOI 10.1016/j.lpm.2018.08.015
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  2. Article ; Online: British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.

    Rowczenio, Dorota M / Youngstein, Taryn / Trojer, Hadija / Omoyinmi, Ebun / Baginska, Anna / Brogan, Paul / Papadopoulou, Charalampia / Rezk, Tamer / Hawkins, Philip N / Lachmann, Helen J

    Rheumatology (Oxford, England)

    2019  Volume 59, Issue 3, Page(s) 554–558

    Abstract: Objectives: Hereditary systemic autoinflammatory diseases are rare genetic disorders, which if untreated, can be complicated by AA amyloidosis leading to renal failure and premature death. Our objective was to find a genetic cause in a British family ... ...

    Abstract Objectives: Hereditary systemic autoinflammatory diseases are rare genetic disorders, which if untreated, can be complicated by AA amyloidosis leading to renal failure and premature death. Our objective was to find a genetic cause in a British family with a dominantly inherited autoinflammatory disease complicated by AA amyloidosis.
    Methods: The index patient and his sister underwent comprehensive clinical and laboratory assessment including the next-generation sequencing panel targeting autoinflammatory genes. Subsequently, other relatives underwent clinical evaluation and genetic testing. Screening of the SAA1 gene was performed in all symptomatic cases.
    Results: The index case and his sister presented with proteinuria due to AA amyloidosis. They have been suffering from episodes of fever accompanied by severe abdominal and chest pain, arthritis and erythema since childhood. Their father died aged 52 years from complications following a cadaveric renal transplantation. The post-mortem examination demonstrated AA amyloidosis. The index case's grandmother, two paternal cousins and two of their children described similar symptoms. All symptomatic individuals had excellent responses to colchicine. Next-generation sequencing analysis identified a single MEFV p.P373L variant in the index case, his sister and subsequently, in symptomatic family members. Sequencing of the SAA1 gene revealed all cases were heterozygous for the SAA1.1 allele.
    Conclusion: Typically FMF is an autosomal recessive disorder; nonetheless rare cases of dominantly inherited disease have previously been described. Here we report a novel MEFV variant p.P373L, causing dominant FMF complicated by AA amyloidosis in four generations of a British family.
    MeSH term(s) Adult ; Amyloidosis/drug therapy ; Amyloidosis/genetics ; Colchicine/therapeutic use ; Familial Mediterranean Fever/drug therapy ; Familial Mediterranean Fever/genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Pyrin/genetics ; Treatment Outcome ; Tubulin Modulators/therapeutic use
    Chemical Substances Pyrin ; Tubulin Modulators ; Colchicine (SML2Y3J35T)
    Language English
    Publishing date 2019-08-05
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kez334
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  3. Article ; Online: Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome.

    Pathak, Shelly / Rowczenio, Dorota M / Owen, Roger G / Doody, Gina M / Newton, Darren J / Taylor, Claire / Taylor, Jan / Cargo, Catherine / Hawkins, Philip N / Krause, Karoline / Lachmann, Helen J / Savic, Sinisa

    Arthritis & rheumatology (Hoboken, N.J.)

    2019  Volume 71, Issue 12, Page(s) 2121–2125

    Abstract: Objective: To assess the prevalence of the MYD88 L265P mutation and variants within NLRP3 and evaluate the status of oligoclonal hematopoiesis in 30 patients with Schnitzler syndrome (SchS).: Methods: Thirty patients with SchS were recruited from 3 ... ...

    Abstract Objective: To assess the prevalence of the MYD88 L265P mutation and variants within NLRP3 and evaluate the status of oligoclonal hematopoiesis in 30 patients with Schnitzler syndrome (SchS).
    Methods: Thirty patients with SchS were recruited from 3 clinical centers. Six patients with known acquired cryopyrin-associated periodic syndromes (aCAPS) were included as controls. Allele-specific oligonucleotide-polymerase chain reaction was used for the detection of the MYD88 L265P variant, next-generation sequencing was applied to analyze NLRP3 and 28 genes associated with myelodysplastic syndrome, and gene scanning was performed for the detection of X chromosome inactivation.
    Results: Activating NLRP3 mutations were not present in 11 SchS patients who had not been sequenced for this gene previously. The MYD88 L265P variant was present in 9 of 30 SchS patients, and somatic mutations associated with clonal hematopoiesis were identified in 1 of 30 patients with SchS and 1 of 6 patients with aCAPS. Evidence of nonrandom X chromosome inactivation was detected in 1 female patient with SchS and 1 female patient with aCAPS.
    Conclusion: A shared molecular mechanism accounting for the pathogenesis of inflammation in SchS remains elusive. Clonal hematopoiesis is not associated with other somatic mutations found in individuals with SchS or aCAPS.
    MeSH term(s) Cryopyrin-Associated Periodic Syndromes/genetics ; Hematopoiesis/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation/genetics ; Myeloid Differentiation Factor 88/analysis ; Myeloid Differentiation Factor 88/genetics ; NLR Family, Pyrin Domain-Containing 3 Protein/analysis ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; Polymerase Chain Reaction ; Prevalence ; Schnitzler Syndrome/genetics
    Chemical Substances MYD88 protein, human ; Myeloid Differentiation Factor 88 ; NLR Family, Pyrin Domain-Containing 3 Protein ; NLRP3 protein, human
    Language English
    Publishing date 2019-10-14
    Publishing country United States
    Document type Evaluation Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2756371-6
    ISSN 2326-5205 ; 2326-5191
    ISSN (online) 2326-5205
    ISSN 2326-5191
    DOI 10.1002/art.41030
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  4. Article ; Online: Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

    Rowczenio, Dorota M / Iancu, Daniela S / Trojer, Hadija / Gilbertson, Janet A / Gillmore, Julian D / Wechalekar, Ashutosh D / Tekman, Mehmet / Stanescu, Horia C / Kleta, Robert / Lane, Thirusha / Hawkins, Philip N / Lachmann, Helen J

    Rheumatology (Oxford, England)

    2017  Volume 56, Issue 2, Page(s) 209–213

    Abstract: Objective: This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to investigate the possibility of common ancestry.! ...

    Abstract Objective: This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to investigate the possibility of common ancestry.
    Methods: MEFV gene was analysed in 3500 subjects with suspected FMF referred to a single UK centre between 2002 and 2014. Patients with p.M694del underwent additional screening of the SAA1 gene as well as haplotype reconstruction of the MEFV locus.
    Results: The p.M694del variant was identified in 21 patients, sharing an identical disease haplotype that appears to have arisen about 550 years ago. The SAA1.1 allele was found in four patients, including two with AA amyloidosis. The clinical features comprised typical FMF symptoms with median age at onset of 18 years; three patients presented with AA amyloidosis, of whom two had had symptoms of FMF in retrospect. Fifteen patients had received colchicine treatment, all with excellent responses.
    Conclusion: The p.M694del variant is associated with autosomal dominantly inherited FMF in Northern European Caucasians. Symptoms may develop later in life than in classical recessive FMF but are otherwise similar, as is the response to colchicine treatment. The 14% incidence of AA amyloidosis may reflect delay in diagnosis associated with extreme rarity of FMF in this population. The common haplotype suggests a single founder living in about 1460.
    MeSH term(s) Adolescent ; Adult ; Aged ; Amyloidosis/genetics ; Child ; Colchicine/therapeutic use ; European Continental Ancestry Group/genetics ; Familial Mediterranean Fever/complications ; Familial Mediterranean Fever/drug therapy ; Familial Mediterranean Fever/genetics ; Female ; Haplotypes ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Mutation ; Nephrotic Syndrome/etiology ; Nephrotic Syndrome/metabolism ; Nephrotic Syndrome/pathology ; Pyrin/genetics ; Serum Amyloid A Protein/genetics ; Serum Amyloid A Protein/metabolism ; Tubulin Modulators/therapeutic use ; United Kingdom ; Young Adult
    Chemical Substances MEFV protein, human ; Pyrin ; SAA1 protein, human ; Serum Amyloid A Protein ; Tubulin Modulators ; Colchicine (SML2Y3J35T)
    Language English
    Publishing date 2017-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kew058
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  5. Article ; Online: Retinal microangiopathy as an initial manifestation of familial amyloid cardiomyopathy associated with transthyretin e89k mutation.

    Sandhu, Ranjit / Westcott, Mark / Pavesio, Carlos / Rowczenio, Dorota M / Gilbertson, Janet A / Gillmore, Julian D / Gibbs, Simon D J

    Retinal cases & brief reports

    2013  Volume 7, Issue 3, Page(s) 271–275

    Abstract: Purpose: To report a rare case of transthyretin (TTR) familial amyloid cardiomyopathy with retinal microangiopathy and vitreous amyloid as the initial manifestation.: Methods: A 54-year-old woman presented with bilateral retinal microangiopathy, ... ...

    Abstract Purpose: To report a rare case of transthyretin (TTR) familial amyloid cardiomyopathy with retinal microangiopathy and vitreous amyloid as the initial manifestation.
    Methods: A 54-year-old woman presented with bilateral retinal microangiopathy, presumed idiopathic retinal vasculitis. She subsequently developed retinal ischemia associated vitreous hemorrhage and was treated with panretinal laser photocoagulation. Clinical eye signs remained stable for 6 years with the absence of overt inflammation. However, the patient developed chest pain and atrial flutter and underwent echocardiography, cardiac magnetic resonance imaging, and Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy to investigate possible cardiac amyloidosis. Sequencing of the TTR gene was conducted and a rectal biopsy performed for tissue diagnosis. A full neurologic screen was also conducted.
    Results: Cardiac investigations were highly suggestive of an amyloid cardiomyopathy. The rectal biopsy stained positive for Congo red with demonstration of apple green birefringence, confirming amyloid, and immunostaining confirmed the TTR subtype. Gene sequencing revealed heterozygous TTR mutation encoding E89K variant. No significant neuropathy could be detected.
    Conclusion: Amyloid should be considered as a masquerade diagnosis in cases of retinal microangiopathy, especially in the absence of inflammation. Liaising with physicians for systemic evaluation and TTR gene sequencing is essential for early diagnosis and management of this rare condition.
    Language English
    Publishing date 2013
    Publishing country United States
    Document type Journal Article
    ISSN 1937-1578
    ISSN (online) 1937-1578
    DOI 10.1097/ICB.0b013e31828eefa2
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  6. Article ; Online: Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.

    Rowczenio, Dorota M / Trojer, Hadija / Omoyinmi, Ebun / Aróstegui, Juan I / Arakelov, Grigor / Mensa-Vilaro, Anna / Baginska, Anna / Silva Pilorz, Caroline / Wang, Guosu / Lane, Thirusha / Brogan, Paul / Hawkins, Philip N / Lachmann, Helen J

    Arthritis & rheumatology (Hoboken, N.J.)

    2016  Volume 68, Issue 8, Page(s) 2044–2049

    Abstract: Objective: To investigate the molecular cause of persistent fevers in a patient returning from working overseas, in whom investigations for tropical diseases yielded negative results.: Methods: DNA was extracted from the patient's whole blood, ... ...

    Abstract Objective: To investigate the molecular cause of persistent fevers in a patient returning from working overseas, in whom investigations for tropical diseases yielded negative results.
    Methods: DNA was extracted from the patient's whole blood, leukocyte subpopulations, saliva, hair root, and sperm. The TNFRSF1A gene was analyzed by polymerase chain reaction (PCR), allele-specific PCR, Sanger sequencing, and next-generation sequencing. In silico molecular modeling was performed to predict the structural and functional consequences of the tumor necrosis factor receptor (TNFR) type I protein mutation in the extracellular domain.
    Results: Sanger sequencing corroborated by allele-specific PCR detected a novel in-frame deletion of 24 nucleotides (c.255_278del) in the TNFRSF1A gene, and this was subsequently confirmed using next-generation sequencing methods (targeted sequencing and amplicon-based deep sequencing). Results of amplicon-based deep sequencing revealed variable frequency of the mutant allele among different cell lines, including sperm, thus supporting the presence of gonosomal TNFRSF1A mosaicism. The patient had a complete response to treatment with interleukin-1 (IL-1) blockade, with resolution of symptoms and normalization of acute-phase protein levels.
    Conclusion: We describe the first case of gonosomal TNFRSF1A mosaicism in a patient with TNFR-associated periodic syndrome (TRAPS), which was attributable to a novel, somatic 24-nucleotide in-frame deletion. The clinical picture in this patient, including the complete response to IL-1 blockade, was typical of that found in TRAPS. This case adds TRAPS to the list of dominantly inherited autoinflammatory diseases reported to be caused by somatic (or postzygotic) mutation.
    MeSH term(s) Adult ; Fever/genetics ; Hereditary Autoinflammatory Diseases/genetics ; Humans ; Male ; Mosaicism ; Receptors, Tumor Necrosis Factor, Type I/genetics ; Sequence Deletion
    Chemical Substances Receptors, Tumor Necrosis Factor, Type I ; TNFRSF1A protein, human
    Language English
    Publishing date 2016-08
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2756371-6
    ISSN 2326-5205 ; 2326-5191
    ISSN (online) 2326-5205
    ISSN 2326-5191
    DOI 10.1002/art.39683
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  7. Article: Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.

    Rowczenio, Dorota M / Gomes, Sónia Melo / Aróstegui, Juan I / Mensa-Vilaro, Anna / Omoyinmi, Ebun / Trojer, Hadija / Baginska, Anna / Baroja-Mazo, Alberto / Pelegrin, Pablo / Savic, Sinisa / Lane, Thirusha / Williams, Rene / Brogan, Paul / Lachmann, Helen J / Hawkins, Philip N

    Frontiers in immunology

    2017  Volume 8, Page(s) 1410

    Abstract: Cryopyrin-associated periodic syndrome (CAPS) is caused ... ...

    Abstract Cryopyrin-associated periodic syndrome (CAPS) is caused by
    Language English
    Publishing date 2017
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606827-8
    ISSN 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2017.01410
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  8. Article ; Online: Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre.

    Lane, Thirusha / Pinney, Jennifer H / Gilbertson, Janet A / Hutt, David F / Rowczenio, Dorota M / Mahmood, Shameem / Sachchithanantham, Sajitha / Fontana, Marianna / Youngstein, Taryn / Quarta, Candida C / Wechalekar, Ashutosh D / Gillmore, Julian D / Hawkins, Philip N / Lachmann, Helen J

    Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

    2017  Volume 24, Issue 3, Page(s) 162–166

    Abstract: Objective: Systemic AA amyloidosis is a serious complication of chronic inflammation; however, there are relatively few published data on its incidence. We investigated the changing epidemiology of AA amyloidosis over a 25-year period at a single ... ...

    Abstract Objective: Systemic AA amyloidosis is a serious complication of chronic inflammation; however, there are relatively few published data on its incidence. We investigated the changing epidemiology of AA amyloidosis over a 25-year period at a single national referral centre.
    Methods: We conducted a retrospective study of all patients diagnosed with AA amyloidosis who had attended the centre between 1990 and 2014 inclusive. Six hundred and twenty-five patients were studied in three cohorts: C1: 1990-1997; C2: 1998-2006; C3: 2007-2014.
    Results: Mean age at presentation increased from 46 in C1 to 56 in C3 (p < .0001). The proportion of South Asian patients increased from 4% in C1 to 17% in C3 (p = .0006). Comparison of underlying diseases between C1 and C3 revealed a reduction in patients with juvenile idiopathic arthritis from 25% to 2% (p < .0001), but an increase in patients with chronic infection due to intravenous recreational drug use from 1% to 13% (p < .0001), and uncharacterized inflammatory disorders from 10% to 27% (p <.0001). More patients were in end-stage renal failure at presentation in C3 (29%) than C1 (15%) (p = .0028). Median age at death was later in C3 (62 years) than C1 (54 years) (p = .0012).
    Conclusion: These data suggest both falling incidence and better outcome in AA amyloidosis over a quarter of a century, reflecting advances in therapeutics and overall management of complex chronic disease in an ageing population. AA amyloidosis of uncertain aetiology presents an emerging major problem. Newer techniques such as next-generation sequencing may aid diagnosis and effective treatment, thereby improving overall survival.
    Language English
    Publishing date 2017-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 1205246-2
    ISSN 1744-2818 ; 1350-6129
    ISSN (online) 1744-2818
    ISSN 1350-6129
    DOI 10.1080/13506129.2017.1342235
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  9. Article ; Online: A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.

    Jimenez-Zepeda, Victor H / Bahlis, Nizar J / Gilbertson, Janet / Rendell, Nigel / Porcari, Riccardo / Lachmann, Helen J / Gillmore, Julian D / Hawkins, Philip N / Rowczenio, Dorota M

    Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

    2015  Volume 22, Issue 1, Page(s) 26–30

    Abstract: Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to ... ...

    Abstract Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to destabilization and dissociation of the TTR tetramer, enabling abnormally folded monomers to self-assemble as amyloid fibrils. Currently, over 120 TTR variants have been described, with varying geographic distributions, degrees of amyloidogenicity and organ involvement. We report here a large Irish family with familial amyloid polyneuropathy (FAP), consisting of multiple affected generations, caused by a novel TTR mutation; p.H110D (H90D). The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis. We used a molecular visualization tool PyMOL to analyze the effect of the p.H110D (H90D) replacement on the stability of the TTR molecule. Our data suggest that the loss of two hydrogen bonds and the presence of an additional negative charge in the core of a cluster of acidic residues significantly perturb the tetramer stability and likely contribute to the pathogenic role of this variant.
    MeSH term(s) Aged ; Amyloid Neuropathies, Familial/diagnosis ; Amyloid Neuropathies, Familial/genetics ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Ireland ; Middle Aged ; Mutation, Missense ; Pedigree ; Prealbumin/genetics
    Chemical Substances Prealbumin
    Language English
    Publishing date 2015-03
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1205246-2
    ISSN 1744-2818 ; 1350-6129
    ISSN (online) 1744-2818
    ISSN 1350-6129
    DOI 10.3109/13506129.2014.987377
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  10. Article ; Online: International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.

    Youngstein, Taryn / Hoffmann, Patrycja / Gül, Ahmet / Lane, Thirusha / Williams, Rene / Rowczenio, Dorota M / Ozdogan, Huri / Ugurlu, Serdal / Ryan, John / Harty, Len / Riminton, Sean / Headley, Alex P / Roesler, Joachim / Blank, Norbert / Kuemmerle-Deschner, Jasmin B / Simon, Anna / Woolf, Adrian S / Hawkins, Philip N / Lachmann, Helen J

    Rheumatology (Oxford, England)

    2018  Volume 56, Issue 12, Page(s) 2102–2108

    Abstract: Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding.: Methods: Retrospective data were collected from members of the ... ...

    Abstract Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding.
    Methods: Retrospective data were collected from members of the International Society for Systemic Autoinflammatory diseases and collated in a single centre. A uniform data collection sheet was used to obtain standardized data including maternal age and diagnosis, type, duration of and response to IL-1 blockade, pregnancy duration, delivery, mode of feeding and neonatal development.
    Results: There were 31 maternal-exposed pregnancies from seven countries and we report the first data on paternal exposure: six to anakinra and five to canakinumab, with no negative outcomes. We also report the first data on canakinumab-exposed pregnancies: eight pregnancies that resulted in the delivery of seven healthy infants of normal gestational age and birthweight. There were 23 anakinra-exposed pregnancies resulting in the birth of 21 healthy infants, and one baby with unilateral renal agenesis and ectopic neurohypophysis. There were two first trimester miscarriages affecting a mother with active disease. There were no serious neonatal infections. Fourteen infants were breast fed with no complications. There were no reports of developmental delay, with follow-up of up to 10 years (median 18 months).
    Conclusion: This series substantially increases the published experience of IL-1 blockade and reproduction including the first data on canakinumab and on paternal exposure to these agents. Data are generally reassuring, although the case of renal agenesis is the second reported in an anakinra-exposed pregnancy.
    MeSH term(s) Adult ; Antibodies, Monoclonal/adverse effects ; Antirheumatic Agents/adverse effects ; Autoimmune Diseases/complications ; Autoimmune Diseases/drug therapy ; Birth Weight ; Breast Feeding/adverse effects ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Interleukin 1 Receptor Antagonist Protein/adverse effects ; Interleukin-1/antagonists & inhibitors ; Male ; Maternal Exposure/adverse effects ; Paternal Exposure/adverse effects ; Pregnancy ; Pregnancy Outcome ; Retrospective Studies ; Young Adult
    Chemical Substances Antibodies, Monoclonal ; Antirheumatic Agents ; Interleukin 1 Receptor Antagonist Protein ; Interleukin-1 ; canakinumab (37CQ2C7X93)
    Language English
    Publishing date 2018-05-15
    Publishing country England
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kex305
    Database MEDical Literature Analysis and Retrieval System OnLINE

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