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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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Zs.A 794: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis.

Cechin, Laura / Gasmelseed, Jihad / Bashford, James / Rowczenio, Dorota / Reilly, Mary M / Gillmore, Julian D / Coutinho, Ester

Neurology. Clinical practice

2019 Volume 11, Issue 5, Page(s) e757–e759

Language	English
Publishing date	2019-12-06
Publishing country	United States
Document type	Case Reports
ZDB-ID	2645818-4
ISSN	2163-0933 ; 2163-0402
ISSN (online)	2163-0933
ISSN	2163-0402
DOI	10.1212/CPJ.0000000000001054
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Article ; Online: Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?

Razvi, Yousuf / Ioannou, Adam / Patel, Rishi K / Chacko, Liza / Karia, Nina / Riefolo, Mattia / Porcari, Aldostefano / Rauf, Muhammad Umaid / Starr, Neasa / Ganesananthan, Sashiananthan / Blakeney, Iona / Kaza, Nandita / Filisetti, Stefano / Bolhuis, Roos Eline / Rowczenio, Dorota / Gilbertson, Janet / Hutt, David / Mahmood, Shameem / Lachmann, Helen J /

Wechalekar, Ashutosh D / Kotecha, Tushar / Knight, Daniel S / Coghlan, John G / Petrie, Aviva / Whelan, Carol J / Venneri, Lucia / Martinez-Naharro, Ana / Hawkins, Phillip / Fontana, Marianna / Gillmore, Julian D

European journal of heart failure

2024 Volume 26, Issue 2, Page(s) 383–393

Abstract: ... Association classification (NHYA class ≥ III; 38%) and 6-min walk test distance (median 276 m). Median 5-year ...

Abstract	Aims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized cause of heart failure. A total of 3-4% of individuals of African descent carry a TTR gene mutation encoding the p.(V142I) variant, a powerful risk factor for development of variant ATTR-CM (ATTRv-CM); this equates to 1.6 million carriers in the United States. We undertook deep phenotyping of p.(V142I)-ATTRv-CM and comparison with wild-type ATTR-CM (ATTRwt-CM). Methods and results: A retrospective study of 413 patients with p.(V142I) ATTRv-CM who attended the UK National Amyloidosis Centre (NAC) was conducted. Patients underwent evaluation at time of diagnosis, including clinical, echocardiography, and biomarker analysis; a subgroup had cardiac magnetic resonance (CMR) imaging. A total of 413 patients with ATTRwt-CM, matched for independent predictors of prognosis (age, NAC Stage, decade of first presentation), were used as a comparator group. At time of diagnosis, patients with ATTRv-CM had significant functional impairment by New York Heart Association classification (NHYA class ≥ III; 38%) and 6-min walk test distance (median 276 m). Median 5-year survival in ATTRv-CM patients was 31 versus 59 months in matched patients with ATTRwt-CM (p < 0.001). Patients with ATTRv-CM had significant impairment of functional parameters by echocardiography including biventricular impairment, high burden of regurgitant valvular disease and low cardiac output. Multivariable analysis revealed the prognostic importance of right ventricular dysfunction. CMR and histological analysis revealed myocyte atrophy and widespread myocardial infiltration in ATTRv-CM. Conclusion: p.(V142I)-ATTRv-CM has an aggressive phenotype characterized by myocyte loss and widespread myocardial infiltration which may account for frequent biventricular failure and poor prognosis in this ATTR-CM genotypic subgroup.
MeSH term(s)	Humans ; Prealbumin/genetics ; Retrospective Studies ; Cardiomyopathies/diagnosis ; Cardiomyopathies/genetics ; Heart Failure/genetics ; Amyloid Neuropathies, Familial/diagnosis ; Amyloid Neuropathies, Familial/genetics
Chemical Substances	Prealbumin
Language	English
Publishing date	2024-01-28
Publishing country	England
Document type	Journal Article
ZDB-ID	1483672-5
ISSN	1879-0844 ; 1388-9842
ISSN (online)	1879-0844
ISSN	1388-9842
DOI	10.1002/ejhf.3088
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Article ; Online: Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome.

Pathak, Shelly / Rowczenio, Dorota / Lara-Reyna, Samuel / Kacar, Mark / Owen, Roger / Doody, Gina / Krause, Karoline / Lachmann, Helen / Doffinger, Rainer / Newton, Darren / Savic, Sinisa

Frontiers in immunology

2020 Volume 11, Page(s) 569006

Abstract: The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM ... ...

Abstract	The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has been extensively studied in this disease setting, the enigmatic paraproteinaemia and its potential consequential effects within SchS, has not previously been thoroughly addressed. Previous studies analyzing clonal B cell repertoires have largely focused on autoimmune disorders such as Systemic Lupus Erythematous (SLE) and hematological malignancies such as Chronic Lymphocytic Leukaemia (CLL), where B-cell clonality is central to disease pathology. The present study uses next-generation sequencing to provide detailed insight into aspects of B cell VDJ recombination and properties of the resulting immunoglobulin chains. An overview of IgH regional dynamics in 10 SchS patients, with a particular focus on CDR3 sequences and VDJ gene usage is reported, highlighting the presence of specific B cell expansions. Protein microarray detected a substantial proportion of autoreactive IgM to nuclear target proteins, though a single universal target was not identified. Together, these genetic and functional findings impart new understanding into this rare disorder.
MeSH term(s)	Adult ; Alleles ; B-Lymphocytes/immunology ; B-Lymphocytes/metabolism ; Biomarkers ; Carrier Proteins/metabolism ; Clonal Evolution/genetics ; Clonal Evolution/immunology ; Disease Susceptibility/immunology ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Immunoglobulin Heavy Chains/genetics ; Immunoglobulin M/genetics ; Immunoglobulin M/immunology ; Male ; Middle Aged ; Phenotype ; Protein Binding/immunology ; Proteome ; Proteomics/methods ; Schnitzler Syndrome/diagnosis ; Schnitzler Syndrome/etiology ; Schnitzler Syndrome/metabolism ; V(D)J Recombination
Chemical Substances	Biomarkers ; Carrier Proteins ; Immunoglobulin Heavy Chains ; Immunoglobulin M ; Proteome
Language	English
Publishing date	2020-12-03
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2020.569006
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Article ; Online: A Novel Pathogenic

Rodrigues, Filipa G / Petrushkin, Harry / Webster, Andrew R / Bickerstaff, Maria / Moraitis, Elena / Rowczenio, Dorota / Aróstegui, Juan I / Westcott, Mark

Ophthalmic genetics

2021 Volume 42, Issue 6, Page(s) 753–764

Abstract: Background: Blau syndrome (BS) is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis and dermatitis that is consequence of gain-of-function : Materials and methods: Clinical features were ... ...

Abstract	Background: Blau syndrome (BS) is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis and dermatitis that is consequence of gain-of-function Materials and methods: Clinical features were retrospectively collected from clinical records. Genetic studies were performed using the Sanger method of DNA sequencing. Results: The proband is a 44 years-old female, who was diagnosed with juvenile onset arthritis at the age of 9 years. She subsequently developed uveitis at age 12 and since then she was managed between the uveitis and rheumatology services. The proband's daughter developed episcleritis at the age of 7 years, and arthritis with bilateral intermediate uveitis two years later. Conclusions: We report a novel pathogenic
MeSH term(s)	Adult ; Arthritis/diagnosis ; Arthritis/genetics ; Child ; Female ; Fluorescein Angiography ; Humans ; Mother-Child Relations ; Mothers ; Mutation, Missense/genetics ; Nod2 Signaling Adaptor Protein/genetics ; Nuclear Family ; Pedigree ; Polymorphism, Single Nucleotide ; Retrospective Studies ; Sarcoidosis/diagnosis ; Sarcoidosis/genetics ; Sequence Analysis, DNA ; Synovitis/diagnosis ; Synovitis/genetics ; Tomography, Optical Coherence ; Uveitis/diagnosis ; Uveitis/genetics
Chemical Substances	NOD2 protein, human ; Nod2 Signaling Adaptor Protein
Language	English
Publishing date	2021-07-12
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2021.1946701
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Article ; Online: Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.

Fontana, Marianna / Martinez-Naharro, Ana / Chacko, Liza / Rowczenio, Dorota / Gilbertson, Janet A / Whelan, Carol J / Strehina, Svetla / Lane, Thirusha / Moon, James / Hutt, David F / Kellman, Peter / Petrie, Aviva / Hawkins, Philip N / Gillmore, Julian D

JACC. Cardiovascular imaging

2020 Volume 14, Issue 1, Page(s) 189–199

Abstract: ... an increase in 6MWT distances (adjusted mean differences between groups: 169 m [95% CI: 57 to 2,80]; p = 0.004 ...

Abstract	Objectives: The purpose of this study was to determine the effect of patisiran on the cardiac amyloid load as measured by cardiac magnetic resonance and extracellular volume (ECV) mapping in cases of transthyretin cardiomyopathy (ATTR-CM). Background: Administration of patisiran, a TTR-specific small interfering RNA (siRNA), has been shown to benefit neuropathy in patients with hereditary ATTR amyloidosis, but its effect on ATTR-CM remains uncertain. Methods: Patisiran was administered to 16 patients with hereditary ATTR-CM who underwent assessment protocols at the UK National Amyloidosis Centre. Twelve of those patients concomitantly received diflunisal as a "TTR-stabilizing" drug. Patients underwent serial monitoring using cardiac magnetic resonance, echocardiography, cardiac biomarkers, bone scintigraphy, and 6-min walk tests (6MWTs). Findings of amyloid types and extracellular volumes were compared with those of 16 patients who were retrospectively matched based on cardiac magnetic resonance results. Results: Patisiran was well tolerated. Median serum TTR knockdown among treated patients was 86% (interquartile range [IQR]: 82% to 90%). A total of 82% of cases showed >80% knockdown. Patisiran therapy was typically associated with a reduction in ECV (adjusted mean difference between groups: -6.2% [95% confidence interval [CI]: -9.5% to -3.0%]; p = 0.001) accompanied by a fall in N-terminal pro-B-type natriuretic peptide concentrations (adjusted mean difference between groups: -1,342 ng/l [95% CI: -2,364 to -322]; p = 0.012); an increase in 6MWT distances (adjusted mean differences between groups: 169 m [95% CI: 57 to 2,80]; p = 0.004) after 12 months of therapy; and a median reduction in cardiac uptake by bone scintigraphy of 19.6% (IQR: 9.8% to 27.1%). Conclusions: Reductions in ECV by cardiac magnetic resonance provided evidence for ATTR cardiac amyloid regression in a proportion of patients receiving patisiran.
MeSH term(s)	Amyloid Neuropathies, Familial ; Humans ; Predictive Value of Tests ; RNA, Small Interfering ; Retrospective Studies ; Tomography, X-Ray Computed
Chemical Substances	RNA, Small Interfering ; patisiran (50FKX8CB2Y)
Language	English
Publishing date	2020-10-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2491503-8
ISSN	1876-7591 ; 1936-878X
ISSN (online)	1876-7591
ISSN	1936-878X
DOI	10.1016/j.jcmg.2020.07.043
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Article ; Online: Focal Segmental Glomerulosclerosis Complicating Therapy With Inotersen, an Antisense Oligonucleotide Inhibitor: A Case Report.

Law, Steven / Arnold, Julia / Rauf, Muhammad U / Heptinstall, Lauren / Gilbertson, Janet / Rowczenio, Dorota / Baharani, Jyoti / Langman, Gerald / Fontana, Marianna / Gillmore, Julian D

American journal of kidney diseases : the official journal of the National Kidney Foundation

2022 Volume 81, Issue 5, Page(s) 606–610

Abstract: Inotersen is an antisense oligonucleotide inhibitor licensed for the treatment of polyneuropathy complicating hereditary transthyretin amyloidosis (ATTRv). Nephrotoxicity has been reported with inotersen, including progression to kidney failure. We ... ...

Abstract	Inotersen is an antisense oligonucleotide inhibitor licensed for the treatment of polyneuropathy complicating hereditary transthyretin amyloidosis (ATTRv). Nephrotoxicity has been reported with inotersen, including progression to kidney failure. We describe what is to our knowledge the first reported case of inotersen-associated nephrotic syndrome secondary to focal segmental glomerulosclerosis (FSGS) and review the literature concerning inotersen-induced nephrotoxicity. We report a woman in her early 30s with ATTRv associated with the V50M transthyretin (TTR) variant, who presented with nephrotic syndrome 7 months after commencement of inotersen. Renal histology demonstrated FSGS and scanty glomerular amyloid deposition. Discontinuation of inotersen alone resulted in complete clinical and biochemical resolution of nephrotic syndrome. Inotersen is associated with significant nephrotoxicity. In the phase 3 NEURO-TTR clinical trial, 3% of patients in the treatment arm developed a crescentic glomerulonephritis. All affected patients carried the V50M TTR variant, which is known to be associated with renal amyloid deposition. This case adds to the spectrum of kidney disease associated with inotersen and indicates that discontinuation of the drug alone may result in resolution of renal complications without additional immunosuppression. Monitoring of kidney function is essential in patients with ATTRv receiving inotersen, particularly if there is evidence of existing renal amyloid.
MeSH term(s)	Female ; Humans ; Oligonucleotides, Antisense/therapeutic use ; Glomerulosclerosis, Focal Segmental/drug therapy ; Nephrotic Syndrome/complications ; Nephrotic Syndrome/drug therapy ; Oligonucleotides/adverse effects ; Renal Insufficiency
Chemical Substances	Oligonucleotides, Antisense ; Inotersen (0IEO0F56LV) ; Oligonucleotides
Language	English
Publishing date	2022-10-10
Publishing country	United States
Document type	Case Reports
ZDB-ID	604539-x
ISSN	1523-6838 ; 0272-6386
ISSN (online)	1523-6838
ISSN	0272-6386
DOI	10.1053/j.ajkd.2022.08.018
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Zs.A 1669: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 468: Show issues

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Article ; Online: Comparison of

Somers, Henry / Tanzim, Ubaid / Porcari, Aldostefano / Razvi, Yousuf / Rezk, Tamer / Patel, Rishi / Chacko, Liza / Rowczenio, Dorota / Gilbertson, Janet A / Hutt, David F / Hawkins, Philip N / Fontana, Marianna / Gillmore, Julian D

JACC. Cardiovascular imaging

2022 Volume 15, Issue 7, Page(s) 1353–1355

MeSH term(s)	Amyloid Neuropathies, Familial/diagnostic imaging ; Amyloid Neuropathies, Familial/genetics ; Cardiomyopathies/etiology ; Cardiomyopathies/genetics ; Echocardiography ; Humans ; Prealbumin/genetics ; Predictive Value of Tests ; Radionuclide Imaging ; Radiopharmaceuticals
Chemical Substances	Prealbumin ; Radiopharmaceuticals
Language	English
Publishing date	2022-05-11
Publishing country	United States
Document type	Letter
ZDB-ID	2491503-8
ISSN	1876-7591 ; 1936-878X
ISSN (online)	1876-7591
ISSN	1936-878X
DOI	10.1016/j.jcmg.2022.02.016
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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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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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Zs.MO 497: Show issues

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