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  1 / 2233 MEDLINE  
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Abramides, Dagma Venturini Marques
Texto completo SciELO Brasil
[PMID]:29236889
[Au] Autor:Maximino LP; Ducati LG; Abramides DVM; Corrêa CC; Garcia PF; Fernandes AY
[Ad] Endereço:Universidade de São Paulo, Faculdade de Odontologia de Bauru, Departamento de Fonoaudiologia e Audiologia, Bauru SP, Brasil.
[Ti] Título:Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.
[So] Source:Arq Neuropsiquiatr;75(12):862-868, 2017 Dec.
[Is] ISSN:1678-4227
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. METHODS: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. RESULTS: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. CONCLUSION: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.
[Mh] Termos MeSH primário: Acrocefalossindactilia/fisiopatologia
Disostose Craniofacial/fisiopatologia
Desenvolvimento da Linguagem
[Mh] Termos MeSH secundário: Acrocefalossindactilia/complicações
Acrocefalossindactilia/diagnóstico por imagem
Adolescente
Adulto
Criança
Pré-Escolar
Disostose Craniofacial/complicações
Disostose Craniofacial/diagnóstico por imagem
Feminino
Seres Humanos
Testes de Linguagem
Masculino
Testes Neuropsicológicos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171220
[Lr] Data última revisão:
171220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE


  2 / 2233 MEDLINE  
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[PMID]:28574949
[Au] Autor:Runyan CM; Xu W; Alperovich M; Massie JP; Paek G; Cohen BA; Staffenberg DA; Flores RL; Taylor JA
[Ad] Endereço:Winston Salem, N.C.; Philadelphia, Pa.; New Haven, Conn.; and New York, N.Y. From the Department of Plastic and Reconstructive Surgery, Wake Forest University; the Division of Plastic Surgery, University of Pennsylvania; the Division of Plastic and Reconstructive Surgery, Yale University; and the Hansjorg Wyss Department of Plastic Surgery and the Department of Radiology, New York University.
[Ti] Título:Minor Suture Fusion in Syndromic Craniosynostosis.
[So] Source:Plast Reconstr Surg;140(3):434e-445e, 2017 Sep.
[Is] ISSN:1529-4242
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. The authors hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and is associated with major suture synostosis. METHODS: The authors performed a two-institution review of infants (<1 year) with syndromic craniosynostosis and available computed tomographic scans. Major (i.e., metopic, sagittal, coronal, and lambdoid) and minor suture/synchondrosis fusion was determined by two craniofacial surgeons and one radiologist using Mimics or Radiant software. RESULTS: Seventy-three patients with 84 scans were included. Those with FGFR2 mutations were more likely to lack any major suture fusion (OR, 19.0; p = 0.044). Minor suture fusion occurred more often in the posterior branch of the coronal arch (OR, 3.33; p < 0.001), squamosal arch (OR, 7.32; p < 0.001), and posterior intraoccipital synchondroses (OR, 15.84; p < 0.001), among FGFR2 versus other patients. Patients (n = 9) with multiple scans showed a pattern of minor suture fusion followed by increased minor and major suture synostosis. Over 84 percent of FGFR2 patients had minor suture fusion; however, six (13 percent) were identified with isolated major suture synostosis. CONCLUSIONS: Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis. Syndromic patients with patent calvarial sutures should be investigated for minor suture involvement. These data have important implications for the pathophysiology of skull growth and development in this select group of patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.
[Mh] Termos MeSH primário: Suturas Cranianas/patologia
Disostose Craniofacial/patologia
Craniossinostoses/patologia
[Mh] Termos MeSH secundário: Disostose Craniofacial/fisiopatologia
Craniossinostoses/genética
Craniossinostoses/fisiopatologia
Feminino
Seres Humanos
Lactente
Pressão Intracraniana/fisiologia
Masculino
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170603
[St] Status:MEDLINE
[do] DOI:10.1097/PRS.0000000000003586


  3 / 2233 MEDLINE  
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[PMID]:28121884
[Au] Autor:Fearon JA
[Ad] Endereço:Dallas, Texas From The Craniofacial Center.
[Ti] Título:Discussion: Evaluating the Efficacy of Monobloc Distraction in the Crouzon-Pfeiffer Craniofacial Deformity Using Geometric Morphometrics.
[So] Source:Plast Reconstr Surg;139(2):488e-490e, 2017 02.
[Is] ISSN:1529-4242
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Acrocefalossindactilia
Disostose Craniofacial
[Mh] Termos MeSH secundário: Seres Humanos
Osteogênese por Distração
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170126
[St] Status:MEDLINE
[do] DOI:10.1097/PRS.0000000000003022


  4 / 2233 MEDLINE  
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[PMID]:28034943
[Au] Autor:Poling MI; Dufresne CR; Chamberlain RL
[Ad] Endereço:Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, US.
[Ti] Título:Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis.
[So] Source:Br J Gen Pract;67(654):32-33, 2017 Jan.
[Is] ISSN:1478-5242
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Poluição do Ar em Ambientes Fechados
Disostose Craniofacial/complicações
Pleurisia/terapia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Pleurisia/complicações
Recidiva
Sono
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161231
[St] Status:MEDLINE
[do] DOI:10.3399/bjgp17X688705


  5 / 2233 MEDLINE  
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[PMID]:27891566
[Au] Autor:Ginelliová A; Farkas D; Iannaccone SF; Vyhnálková V; Vasovcák P
[Ad] Endereço:Medico-Legal and Pathological-Anatomical Department of Health Care Surveillance Authority, Letná 47, 040 01, Kosice, Slovak Republic. e.ginelli@gmail.com.
[Ti] Título:Sudden death associated with syndromic craniosynostosis.
[So] Source:Forensic Sci Med Pathol;12(4):506-509, 2016 Dec.
[Is] ISSN:1556-2891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis. The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene. Crouzon syndrome is a genetic disorder characterized by premature fusion of the cranial bone sutures resulting in distinctive malformations of the craniofacial region.
[Mh] Termos MeSH primário: Craniossinostoses/patologia
Morte Súbita/etiologia
[Mh] Termos MeSH secundário: Edema Encefálico/etiologia
Edema Encefálico/patologia
Criança
Disostose Craniofacial/diagnóstico
Disostose Craniofacial/genética
Craniossinostoses/complicações
Craniossinostoses/etiologia
Feminino
Seres Humanos
Mutação
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161129
[St] Status:MEDLINE


  6 / 2233 MEDLINE  
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[PMID]:27712819
[Au] Autor:Wang JC; Nagy L; Demke JC
[Ad] Endereço:Department of Otolaryngology---Head and Neck Surgery, Texas Tech University Health Sciences Center, 3601 4th Street, Stop 8312, Lubbock, TX 79430, USA; Department of Otolaryngology---Head and Neck Surgery, University of Cincinnati, Cincinnati, OH, USA.
[Ti] Título:Syndromic Craniosynostosis.
[So] Source:Facial Plast Surg Clin North Am;24(4):531-543, 2016 Nov.
[Is] ISSN:1558-1926
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different. The importance of obtaining a thorough history and a complete physical and examination is highlighted. Adjuvant testing and multidisciplinary management are discussed.
[Mh] Termos MeSH primário: Disostose Craniofacial
Craniossinostoses
[Mh] Termos MeSH secundário: Disostose Craniofacial/complicações
Disostose Craniofacial/diagnóstico
Disostose Craniofacial/genética
Disostose Craniofacial/cirurgia
Craniossinostoses/complicações
Craniossinostoses/diagnóstico
Craniossinostoses/genética
Craniossinostoses/cirurgia
Seres Humanos
Osteogênese por Distração
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161008
[St] Status:MEDLINE


  7 / 2233 MEDLINE  
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[PMID]:27692993
[Au] Autor:Arnaud E; Paternoster G; James S; Morisseau-Durand MP; Couloigner V; Diner P; Tomat C; Viot-Blanc V; Fauroux B; Cormier-Daire V; Baujat G; Robert M; Picard A; Antunez S; Khonsari R; Pamphile-Tabuteau L; Legros C; Zerah M; Meyer P
[Ad] Endereço:UF de chirurgie crânio-faciale, service de neurochirurgie pédiatrique, centre de références maladies rares pour les malformations crânio-faciales (CRMR), hôpital Necker-Enfants-Malades, 75015 Paris, France; Clinique Marcel-Sembat, Ramsay générale de santé, 92100 Boulogne-Billancourt, France. Electro
[Ti] Título:[Craniofacial strategy for syndromic craniosynostosis].
[Ti] Título:Stratégie craniofaciale pour les faciocraniosténoses..
[So] Source:Ann Chir Plast Esthet;61(5):408-419, 2016 Oct.
[Is] ISSN:1768-319X
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment. The dissociated strategy (fronto-orbital advancement first, followed by facial osteotomy of Le Fort 3 type). The growing evolution dictates the sequence of subsequent surgeries according to the monitoring of intracranial pressure by fundus examination and of the respiration by polysomnography. Le Fort 3 and transversal maxillary distraction may be repeated if necessary. Orthognathic surgery is almost always compulsory after the age of 14, before the aesthetic refinements which can be undertaken ultimately (rhinoplasty, genioplasty, canthopexies, fat grafting…).
[Mh] Termos MeSH primário: Disostose Craniofacial/cirurgia
Craniossinostoses/cirurgia
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Criança
Disostose Craniofacial/diagnóstico por imagem
Craniossinostoses/diagnóstico por imagem
Craniotomia
Seres Humanos
Imagem Tridimensional
Osteogênese por Distração
Cirurgia Assistida por Computador
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170411
[Lr] Data última revisão:
170411
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE


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[PMID]:27639780
[Au] Autor:Khonsari RH; Way B; Nysjö J; Odri GA; Olszewski R; Evans RD; Dunaway DJ; Nyström I; Britto JA
[Ad] Endereço:The Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Assistance Publique - Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Service de Chirurgie Maxillo-faciale et Plastique, Université Paris-Descartes, Paris, France.
[Ti] Título:Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes.
[So] Source:J Craniomaxillofac Surg;44(10):1567-1575, 2016 Oct.
[Is] ISSN:1878-4119
[Cp] País de publicação:Scotland
[La] Idioma:eng
[Ab] Resumo:A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients. These procedures modify the shape and volume of the orbit and tend to correct oculo-orbital disproportion. Little is known about the detailed 3D shape of the orbital phenotype in CPS and AS, and about how this is modified by fronto-facial surgery. Twenty-eight patients with CMS, 13 patients with AS and 40 control patients were included. CT scans were performed before and after fronto-facial surgery. Late post-operative scans were available for the Crouzon-Pfeiffer syndrome group. Orbital morphology was investigated using conventional three-dimensional cephalometry and shape analysis after mesh-based segmentation of the orbital contents. We characterized the 3D morphology of CPS and AS orbits and showed how orbital shape is modified by surgery. We showed that monobloc-distraction in CPS and bipartition-distraction in AS specifically address the morphological characteristics of the two syndromes.
[Mh] Termos MeSH primário: Acrocefalossindactilia/cirurgia
Disostose Craniofacial/cirurgia
Ossos Faciais/cirurgia
Órbita/cirurgia
[Mh] Termos MeSH secundário: Acrocefalossindactilia/diagnóstico por imagem
Adolescente
Estudos de Casos e Controles
Cefalometria
Criança
Pré-Escolar
Disostose Craniofacial/diagnóstico por imagem
Ossos Faciais/diagnóstico por imagem
Seres Humanos
Imagem Tridimensional
Lactente
Órbita/diagnóstico por imagem
Órbita/patologia
Osteogênese por Distração/métodos
Osteotomia/métodos
Sistema Respiratório/patologia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:160919
[St] Status:MEDLINE


  9 / 2233 MEDLINE  
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[PMID]:27625150
[Au] Autor:Kapoor S
[Ad] Endereço:a Private Practice , Richmond , Virginia , USA.
[Ti] Título:A unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome".
[So] Source:Orbit;35(6):350, 2016 Dec.
[Is] ISSN:1744-5108
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Blefarofimose/etiologia
Disostose Craniofacial/complicações
[Mh] Termos MeSH secundário: Blefarofimose/diagnóstico
Disostose Craniofacial/diagnóstico
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170131
[Lr] Data última revisão:
170131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160915
[St] Status:MEDLINE


  10 / 2233 MEDLINE  
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Texto completo
[PMID]:27430617
[Au] Autor:Lin Y; Gao H; Ai S; Eswarakumar JV; Li T; Liu B; Jiang H; Liu Y; Liu X; Li Y; Ni Y; Chen J; Lin Z; Liang X; Jin C; Huang X; Lu L; Liu Y
[Ad] Endereço:State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat­Sen University, Guangzhou, Guangdong 510060, P.R. China.
[Ti] Título:Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.
[So] Source:Mol Med Rep;14(3):1941-6, 2016 Sep.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak­like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best­corrected visual acuity, slit­lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811­812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of our knowledge, the identification of two novel FGFR 2 gene mutations in Chinese patients with Crouzon syndrome.
[Mh] Termos MeSH primário: Disostose Craniofacial/metabolismo
Heterozigoto
Mutação de Sentido Incorreto
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Pré-Escolar
Disostose Craniofacial/genética
Análise Mutacional de DNA
Feminino
Seres Humanos
Lactente
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160720
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.5497



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