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1.
Adv Rheumatol ; 60: 12, 2020. tab
Article de Anglais | LILACS | ID: biblio-1088649

RÉSUMÉ

Abstract İntroduction: Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation. Anti-interleukin-1 (Anti-IL-1) treatments are recommended in colchicine resistant and/or intolerant FMF patients. This study aims to evaluate the efficacy of anakinra and canakinumab in FMF patients that are resistant/intolareted to colchicine or complicated with amyloidosis. Methods: Between January 2014 and March 2019, 65 patients following-up at Sivas Cumhuriyet University (Medical Faculty Rheumatology-Internal Medicine Department) who were diagnosed with FMF according to the criteria of Tel-Hashomer were included in the study. The laboratory values and clinical features of patients and disease activities were recorded at least every 3 months, and these data were analyzed. Results: Forty-one (63.1%) patients used anakinra (100 mg/day) and 24 (36.9%) patients used canakinumab (150 mg/8 week). The median duration of anti-IL-1 agents use was 7 months (range, 3-30). Fifteen (23.1%) cases were complicated with amyloidosis. Seven (10.8%) patients had renal transplantation. Overall, the FMF 50 score response was 96.9%. In the group that had a glomerular filtration rate (GFR) ≥ 60 ml/min/m2, the median proteinuria decreased from 2390 mg/day (range, 1400-7200) to 890 mg/day (range, 120-2750) (p = 0.008). No serious infections were detected, except in one patient. Conclusions: Anti-IL-1 agents are effective and safe in the treatment of FMF patients. These agents are particularly effective at reducing proteinuria in patients with GFR ≥ 60 ml/min/m2, but less effective in cases with FMF associated with arthritis and sacroiliitis. Large and long follow-up studies are now needed to establish the long-term effects of these treatments.


Sujet(s)
Humains , Fièvre méditerranéenne familiale/traitement médicamenteux , Colchicine/effets indésirables , Antagoniste du récepteur à l'interleukine-1/usage thérapeutique , Amyloïdose , Résistance aux substances
2.
São Paulo med. j ; São Paulo med. j;137(1): 39-44, Jan.-Feb. 2019. tab
Article de Anglais | LILACS | ID: biblio-1004743

RÉSUMÉ

ABSTRACT BACKGROUND: Up to 5% of familial Mediterranean fever (FMF) cases are unresponsive to colchicine, through resistance, side effects and toxicity. Anakinra is an alternative treatment for FMF patients whose disease remains uncontrolled with colchicine. We aimed to evaluate anti-interleukin-1 treatment regarding clinical findings, laboratory parameters and quality of life (QoL) among FMF patients presenting resistance and toxicity towards colchicine. DESIGN AND SETTING: Descriptive observational study at the rheumatology clinic, Adnan Menderes University Medical School, Aydın, Turkey. METHODS: Among the patients included, age, sex, MEFV genotypes, acute-phase reactants, hepatic/renal function tests, average colchicine dose, disease duration, attack frequency, attack duration, disease severity, proteinuria, amyloidosis and QoL were evaluated. Colchicine resistance was defined as > 6 typical episodes/year or > 3 per 4-6 months. Kolmogorov-Smirnov, Friedman and two-way analysis of variance tests were used for statistical analyses. RESULTS: Between 2015 and 2017, 14 FMF patients receiving anakinra were enrolled. The mean colchicine dose was 1.7 ± 0.3 mg/day before use of anakinra. Ten patients were attack-free after treatment, while three showed reductions of at least 50% in attack frequency, attack duration and disease severity. Proteinuria levels in all patients with renal amyloidosis decreased after treatment. QoL among patients with renal amyloidosis differed significantly from QoL among non-amyloidosis patients. Mean visual analogue scale scores significantly improved in both groups after use of anakinra. CONCLUSIONS: Use of anakinra reduced attack frequency and proteinuria and acute-phase reactant levels, and improved QoL, with only a few uncomplicated side effects among colchicine-resistant or intolerant FMF patients. Injection-site reactions of severity insufficient to require discontinuation of treatment were seen.


Sujet(s)
Humains , Mâle , Femelle , Adulte , Adulte d'âge moyen , Fièvre méditerranéenne familiale/traitement médicamenteux , Qualité de vie , Résistance aux substances/effets des médicaments et des substances chimiques , Colchicine/usage thérapeutique , Interleukine-1/antagonistes et inhibiteurs , Antirhumatismaux/usage thérapeutique , Antagoniste du récepteur à l'interleukine-1/usage thérapeutique , Fièvre méditerranéenne familiale/physiopathologie , Protéinurie/urine , Valeurs de référence , Facteurs temps , Turquie , Indice de gravité de la maladie , Sédimentation du sang , Reproductibilité des résultats , Études rétrospectives , Analyse de variance , Résultat thérapeutique , Statistique non paramétrique , Échelle visuelle analogique , Amyloïdose/physiopathologie , Amyloïdose/traitement médicamenteux , Maladies du rein/physiopathologie , Maladies du rein/traitement médicamenteux
3.
Gastroenterol. latinoam ; 30(3): 141-144, 2019. tab, ilus
Article de Espagnol | LILACS | ID: biblio-1104465

RÉSUMÉ

Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16, characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erysipelaslike erythema. An episode lasts from one to three days, and its frequency is very variable. This disease is more frequent among Mediterranean populations, Jews from North Africa (not Ashkenazi), Armenians, Turks and Arabs. However, in recent years more cases have been reported in countries not related to this area. There are no formal studies of epidemiology in Chile. We present the case of one patient of Egyptian/ Jewish ancestry, and the case of a family of German/Spanish ancestry, all Chileans with semiology and characteristic evolution of familial Mediterranean fever and heterozygous positive molecular study. The absence of diagnosis in non-Mediterranean countries may be due to the lack of awareness of this disease. In Chile there has been a rise in cases given by migrants and their offspring, so it is very important to keep in mind as possible diagnosis in case of pain and fever of unknown origin. On the other hand, the familial Mediterranean fever is mainly of autosomal recessive inheritance, but dominant variants have been described. Both cases described in this work present the variant in which the disease manifests itself in its heterozygous form, generating an autosomal dominant inheritance, which would increase the number of affected individuals in the population.


La fiebre mediterránea familiar es un trastorno auto inflamatorio hereditario de herencia predominantemente autosómica recesiva, producida por mutaciones en el gen MEFV que se encuentra en el brazo corto del cromosoma 16, y que se caracteriza por episodios recurrentes de fiebre acompañada de peritonitis, pleuritis, artritis o eritema tipo erisipela. Un episodio dura entre uno y tres días, y su frecuencia es muy variable. Esta enfermedad es más frecuente entre las poblaciones mediterráneas, judíos del norte de África (no ashkenazíes), armenios, turcos y árabes. Sin embargo, en los últimos años se han reportado más casos en países no relacionados con esta área. No hay estudios epidemiológicos formales en Chile. Presentamos el caso de una paciente de ascendencia egipcia/judía, y el caso de una familia de ascendencia alemana/española, todos chilenos con semiología y evolución característica de fiebre mediterránea familiar y estudio molecular positivo heterocigoto. La falta de diagnóstico en países no mediterráneos puede deberse a la falta de conocimiento de esta enfermedad. En Chile han aumentado los casos dado el aumento de migrantes y sus descendientes, por lo que es importante tener este diagnóstico como posibilidad en caso de dolor y fiebre de origen desconocido. Por otro lado, la fiebre mediterránea familiar es principalmente de herencia autosómica recesiva, pero se han descrito variantes dominantes. Los dos casos descritos en este trabajo presentan la variante en la que la enfermedad se manifiesta en su forma heterocigota, generando una herencia autosómica dominante, lo que aumentaría el número de individuos afectados en la población.


Sujet(s)
Humains , Mâle , Femelle , Enfant , Adolescent , Adulte d'âge moyen , Fièvre méditerranéenne familiale/diagnostic , Fièvre méditerranéenne familiale/génétique , Fièvre méditerranéenne familiale/traitement médicamenteux , Population de passage et migrants , Colchicine/usage thérapeutique , Prédisposition génétique à une maladie , Pyrine/génétique , Hétérozygote
4.
Arch. argent. pediatr ; 116(5): 649-654, oct. 2018. ilus, tab
Article de Anglais, Espagnol | LILACS, BINACIS | ID: biblio-973666

RÉSUMÉ

El objetivo de este estudio fue evaluar a los pacientes con fiebre mediterránea familiar (familial Mediterranean fever, FMF) y dolor abdominal crónico resistentes al tratamiento con colchicina. Se incluyó a 48 pacientes diagnosticados en nuestro consultorio de reumatología pediátrica que tenían dolor abdominal a pesar del tratamiento con colchicina. A todos los pacientes se los derivó a un gastroenterólogo pediátrico. Se registraron las características del dolor, tales como aparición, duración y frecuencia; se planificó una endoscopía digestiva para obtener un diagnóstico diferencial. Se determinó la presencia de una mutación del gen MEFV en 46 pacientes. La mediana de la duración del tratamiento fue de 2,8 años. Aproximadamente el 60% de los pacientes tenían dolor abdominal todos los días o de dos a tres veces a la semana; en el 73% de los casos, duró menos de tres horas. A 41 pacientes se les realizó una endoscopía digestiva alta. La gastroduodenitis es un hallazgo frecuente en los pacientes con FMF y dolor abdominal persistente a pesar del tratamiento. Los pacientes con los puntajes más altos de severidad de la enfermedad tenían inflamación digestiva grave.


The aim of the study to evaluate familial mediterranean fever (FMF) patients with chronic abdominal pain unresponsive to colchicine treatment. Forty-eight patients who diagnosed in our Pediatric Rheumatology clinics and suffering from abdominal pain despite colchicine treatment were include. All patients were referred to a pediatric gastroenterologist. The pain characteristics such as onset, duration and frequency were recorded; gastrointestinal (GI) endoscopy was planned for differential diagnosis. MEFV mutation was determined in 46 patients. The median duration of treatment was 2.8 years. Approximately 60% of the patients suffered from abdominal pain every day or 2-3 times a week, in 73% of the cases it lasted less than three hours. Forty-one patients underwent upper GI endoscopy. Gastroduodenitis is a common finding in persisting abdominal pain despite therapy of FMF patients. The patients with the highest disease severity scores had severe inflammation within the entire GI system.


Sujet(s)
Humains , Enfant , Adolescent , Fièvre méditerranéenne familiale/complications , Douleur abdominale/épidémiologie , Colchicine/administration et posologie , Douleur chronique/étiologie , Fièvre méditerranéenne familiale/traitement médicamenteux , Douleur abdominale/étiologie , Endoscopie gastrointestinale/méthodes , Duodénite/diagnostic , Duodénite/étiologie , Douleur chronique/épidémiologie , Gastrite/diagnostic , Gastrite/étiologie
5.
Arq. gastroenterol ; Arq. gastroenterol;55(2): 175-178, Apr.-June 2018. tab
Article de Anglais | LILACS | ID: biblio-950511

RÉSUMÉ

ABSTRACT BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.


RESUMO CONTEXTO: A febre familiar do Mediterrâneo e a doença celíaca compartilham algumas características clínicas comuns, tais como dor abdominal, diarreia, artralgia e artrite. Além disso, ambas as doenças são associadas a muitas doenças auto-imunes e inflamatórias. Estudos anteriores mostraram associação entre febre familiar do Mediterrâneo e diferentes condições clínicas. OBJETIVO: Investigar a relação entre doença celíaca e doença de febre familiar do Mediterrâneo colchicina-resistente (FMFcr). MÉTODOS: Foi realizado um estudo prospectivo no departamento de Gastroenterologia pediátrica e Reumatologia pediátrica de outubro de 2015 até agosto de 2016. Um total de 24 pacientes com FMFcr foram incluídos. Sessenta indivíduos saudáveis combinados por sexo e idade foram utilizados como um grupo de controle. Os níveis de IgA total e transglutaminase tissular (tTG) anticorpo IgA foram medidos em ambos os grupos. Aqueles com maior nível de tTG IgA foram testados para anticorpos de IgA antiendomísio (EMA). Gastroduodenoscopia e biópsia intestinal foram planejadas para um diagnóstico definitivo da doença celíaca em pacientes com EMA positivo. RESULTADOS: Dos 24 pacientes neste estudo, 18 (75,0%) eram do sexo feminino. Somente 4 (16,6%) de 24 pacientes foram positivos para tTG IgA. Pacientes com tTG IgA positivo então foram testados para anticorpos IgA de EMA, e nenhum deles teve um resultado positivo. Somente um (1,6%) indivíduo do grupo controle foi positivo para tTG IgA, mas a positividade EMA não foi detectada. CONCLUSÃO: Não encontramos a doença celíaca em 24 crianças com FMFcr. Desde que a doença FMFcr é raramente vista na população em geral, estudos com mais pacientes são necessários para fornecer interpretação mais precisa.


Sujet(s)
Humains , Mâle , Femelle , Enfant , Adolescent , Fièvre méditerranéenne familiale/traitement médicamenteux , Maladie coeliaque/sang , Colchicine/usage thérapeutique , Dépistage de masse , Fièvre méditerranéenne familiale/complications , Résistance aux substances , Études cas-témoins , Maladie coeliaque/génétique , Études transversales , Études prospectives , Mutation
6.
Rev. bras. reumatol ; Rev. bras. reumatol;54(5): 356-359, Sep-Oct/2014. tab
Article de Portugais | LILACS | ID: lil-725692

RÉSUMÉ

Introdução: Colchicina é a viga-mestra para o tratamento de FFM, que é uma doença autoinflamatória com polisserosite recidivante como principal manifestação. Apesar de doses diárias de 2 mg ou mais/dia, aproximadamente 5%-10% dos pacientes continuam a sofrer de seus ataques. Neste estudo, objetivamos investigar os aspectos da depressão e dos ataques em pacientes com FFM apresentando resistência à colchicina (RC). Pacientes e Métodos: Em pacientes com FFM, RC foi definida como dois ou mais ataques nos últimos seis meses, quando em medicação com colchicina 2 mg/dia. Dezoito pacientes (nove mulheres e nove homens) foram recrutados no grupo RC e 41 pacientes no grupo de controle (29 mulheres/12 homens). Foram avaliados os achados demográficos, clínicos e laboratoriais, a fidelidade ao tratamento e os escores do Beck Depression Inventory (BDI). Resultados: A idade de surgimento da FFM foi significativamente menor no grupo RC (12,3 anos vs. 16,9 anos, P = 0,03). A duração da doença foi maior no grupo RC (p = 0,01). Dores abdominais e nas pernas em decorrência do exercício foram significativamente mais frequentes no grupo RC versus controles (83% vs. 51%; p = 0,02 e 88% vs. 60%; p = 0,04, respectivamente). Pacientes com escores BDI > 17 pontos foram mais frequentes no grupo RC versus controles (50% vs. 34,1%; p < 0,001). Discussão: Verificamos que: (1) a idade do surgimento da doença foi mais baixa e (2) a duração da doença foi maior no grupo RC. Ataques pleuríticos, hematúria e proteinúria foram mais frequentes em pacientes com RC. Propomos que a depressão é fator importante a ser levado em consideração na sensibilidade à RC. .


Introduction: Colchicine is the mainstay for the treatment of FMF, which is an auto-inflammatory disease mainly with relapsing polyserositis. Despite daily doses of 2 mg or more each day, approximately 5% to 10% of the patients continue to suffer from its attacks. In this study, we aimed to investigate the depression and attack features in patients with FMF who have colchicine resistance (CR). Patients e Methods: CR was defined for FMF patients with 2 or more attacks within the last 6 months period while using 2 mg/day colchicine. Eighteen patients (9 Female/9 Male) were enrolled into the CR group and 41 patients were enrolled into the control group (12 Male/29 Female). Demographic, clinical e laboratory findings, treatment adherence, and the Beck Depression Inventory (BDI) scores were evaluated. Results: The age of onset of FMF was significantly lower in the CR group (12.3 yrs vs. 16.9 yrs, P = 0.03). Disease duration was longer in the CR group (P = 0.01). Abdominal and leg pain due to exercise were significantly more frequent in the CR group versus controls (83% vs. 51%; P = 0.02 e 88% vs. 60%; P = 0.04, respectively). Patients with BDI scores over 17 points were more frequent in the CR group compared to controls (50% vs. 34.1%; P < 0.001). Discussion: We found that: (1) the age of disease onset was lower and (2) the disease duration was longer in CR group. Pleuritic attacks, hematuria e proteinuria were more frequent in CR patients. We propose that depression is an important factor to consider in the susceptibility to CR. .


Sujet(s)
Humains , Mâle , Femelle , Adulte , Fièvre méditerranéenne familiale/traitement médicamenteux , Colchicine/usage thérapeutique , Fièvre méditerranéenne familiale/étiologie , Résistance aux substances , Études prospectives , Dépression/complications
7.
Iranian Journal of Pediatrics. 2012; 22 (1): 23-27
de Anglais | IMEMR | ID: emr-124350

RÉSUMÉ

Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease. However, nearly 5-10% of patients are resistant to colchicines. There are many different modalities in colchicine resistant patients, biologic and immunosupressive drugs being the known ones. We studied the efficacy of Dapsone as an anti inflammatory drug in children with FMF who did not tolerate colchicine well. This is a case series study in 10 patients who had FMF on the base of Tel-Hashomer criteria and did not tolerate colchicine or did not respond to it well. Patients took 2mg/kg dapsone in single dose, during 6 months. In four patients episodic attacks returned after 27 days, so the drug was discontinued. One patient refused to continue the study; in five patients dapsone was taken in average for 8 months and 6 days, at least for 6 months. These five patients had no episodes of attack during the following observation. Dapsone could control episodic attacks of FMF in 50% of cases. It might be considered as an alternative therapy in FMF cases not responding to colchicine


Sujet(s)
Humains , Mâle , Femelle , Fièvre méditerranéenne familiale/traitement médicamenteux , Thérapies complémentaires , Enfant , Colchicine , Résultat thérapeutique
8.
LMJ-Lebanese Medical Journal. 2008; 56 (1): 35-41
de Anglais | IMEMR | ID: emr-88624

RÉSUMÉ

Familial Mediterranean fever [FMF] is the earliest known autoinflammatory disease, characterized by symptoms such as arthritis, peritonitis, pleuritis, erysipelas-like erythema, and most importantly amyloidosis. This disease is very common in populations of the Mediterranean area, and due to its high carrier frequency and occurrence rate in these populations, it has been the focus of much research work. Such research has allowed greater insights into the genetics of FMF, leading to the discovery of the responsible gene in 1997 and the determination of mutations and their effect on the phenotype of patients, as well as the interactions and roles of the pyrin protein, which seems to have various roles in regulation of innate immunity, inflammation, and apoptosis. Colchicine has been used as preventive treatment since 1972, and recent studies have allowed the determination of its mode of action


Sujet(s)
Humains , Fièvre méditerranéenne familiale/génétique , Fièvre méditerranéenne familiale/traitement médicamenteux , Protéines du cytosquelette , Colchicine , Génotype , Phénotype
9.
Rev. méd. Chile ; 134(12): 1558-1561, dic. 2006. ilus, tab
Article de Espagnol | LILACS | ID: lil-441435

RÉSUMÉ

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.


Sujet(s)
Adolescent , Adulte , Femelle , Humains , Mâle , Fièvre méditerranéenne familiale/génétique , Mutation/génétique , Récepteur au facteur de nécrose tumorale de type I/génétique , Fièvre méditerranéenne familiale/traitement médicamenteux , Fièvre méditerranéenne familiale/anatomopathologie , Haplotypes/génétique , Syndrome
10.
Bol. Hosp. San Juan de Dios ; 51(1): 4-9, ene.-feb. 2004.
Article de Espagnol | LILACS | ID: lil-390478

RÉSUMÉ

Los compromisos articulares intermitentes y periódicos son numerosos y algunos de ellos, frecuentes en la práctica habitual. Se manifiestan clínicamente como artralgias predominantemente traumáticas, mecánicas o posturales; artrosis de naturaleza degenerativas, metabólicas o mecánicas o artritis de carácter inflamatorio. Entre éstas últimas las hay febriles; de causa sistémica o local y de naturaleza inmunológica o idiopática. Las més frecuentes son las artritis por cristales (gota y condrocalcinosis) y las artritis reactivas (síndrome de Reiter, artritis enteropáticas, espondiloartritis anquilosante, artritis psoriática). Entre los cuadros infrecuentes están la hidroartrosis intermitente, el reumatismo palindrómico y algunos síndromes febriles periódicos hereditarios como la fiebre mediterránea familiar. En general estos cuadros no comprometen el estado general del paciente; son autolimitados y no dejan secuelas, pero plantean problemas de diagnóstico diferencial.


Sujet(s)
Humains , Arthrite/étiologie , Colchicine/usage thérapeutique , Fièvre méditerranéenne familiale/traitement médicamenteux , Fièvre/diagnostic , Fièvre/thérapie , Périodicité , Rhumatismes , Diagnostic différentiel , Synovite
12.
Saudi Medical Journal. 2001; 22 (2): 104-109
de Anglais | IMEMR | ID: emr-58239

RÉSUMÉ

Familial Mediterranean Fever is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks that differ in quality across patients and even within the same patient. There may be accompanying joint pain, chest pain, skin manifestations and other findings, and amyloidosis may occur in some patients as a complication. The primary treatment is Colchicine, which decreases the frequency of the attacks and prevents the occurrence of amyloidosis. The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The spectrum of mutations in the Arabic population is partially studied. There are still several issues to be solved before we fully understand the disorder, and to enable us to confront it and decrease the morbidity and mortality inflicted by it


Sujet(s)
Fièvre méditerranéenne familiale/anatomopathologie , Fièvre méditerranéenne familiale/traitement médicamenteux , Colchicine , Colchicine/administration et posologie , Fièvre méditerranéenne familiale/génétique
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