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[PMID]: 28748566 [Au] Autor: Leinøe E; Zetterberg E; Kinalis S; Østrup O; Kampmann P; Norström E; Andersson N; Klintman J; Qvortrup K; Nielsen FC; Rossing M [Ad] Endereço: Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [Ti] Título: Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia. [So] Source: Br J Haematol;179(2):308-322, 2017 10. [Is] ISSN: 1365-2141 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Rare inherited bleeding disorders (IBD) are a common cause of bleeding tendency. To ensure a correct diagnosis, specialized laboratory analyses are necessary. This study reports the results of an upfront diagnostic strategy using targeted whole exome sequencing. In total, 156 patients with a significant bleeding assessment tool score participated in the study, of which a third had thrombocytopenia. Eighty-seven genes specifically associated with genetic predisposition to bleeding were analysed by whole exome sequencing. Variants were classified according to the five-tier scheme. We identified 353 germline variants. Eight patients (5%) harboured a known pathogenic variant. Of the 345 previously unknown variants, computational analyses predicted 99 to be significant. Further filtration according to the Mendelian inheritance pattern, resulted in 59 variants being predicted to be clinically significant. Moreover, 34% (20/59) were assigned as novel class 4 or 5 variants upon targeted functional testing. A class 4 or 5 variant was identified in 30% of patients with thrombocytopenia (14/47) versus 11% of patients with a normal platelet count (12/109) (P < 0·01). An IBD diagnosis has a major clinical impact. The genetic investigations detailed here extricated our patients from a diagnostic conundrum, thus demonstrating that continuous optimization of the diagnostic work-up of IBD is of great benefit. [Mh] Termos MeSH primário: Transtornos Herdados da Coagulação Sanguínea/diagnóstico Transtornos Herdados da Coagulação Sanguínea/genética Exoma Mutação em Linhagem Germinativa [Mh] Termos MeSH secundário: Transtornos Herdados da Coagulação Sanguínea/epidemiologia Dinamarca/epidemiologia Feminino Estudo de Associação Genômica Ampla Seres Humanos Masculino Suécia/epidemiologia [Pt] Tipo de publicação: CLINICAL TRIAL; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 180209 [Lr] Data última revisão: 180209 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170728 [St] Status: MEDLINE [do] DOI: 10.1111/bjh.14863

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[PMID]: 29227613 [Au] Autor: Danilova LD; Vynogradova RP; Grigorieva MV [Ti] Título: [Inventive activity of the Department of Protein Structure and Function of the Palladin Institute of Biochemistry of NAS of Ukraine. Part I. Development of the diagnostic methods for detection of hemostasis disorders and characterization of certain blood coagulation factors]. [So] Source: Ukr Biochem J;88(2):107-18, 2016 Mar-Apr. [Is] ISSN: 2409-4943 [Cp] País de publicação: Ukraine [La] Idioma: rus; ukr [Mh] Termos MeSH primário: Academias e Institutos/história Bioquímica/história Transtornos Herdados da Coagulação Sanguínea/diagnóstico Invenções/história [Mh] Termos MeSH secundário: Bioquímica/recursos humanos Transtornos Herdados da Coagulação Sanguínea/história Fatores de Coagulação Sanguínea/história Fatores de Coagulação Sanguínea/metabolismo Fatores de Coagulação Sanguínea/ultraestrutura História do Século XX História do Século XXI Seres Humanos Ucrânia [Pt] Tipo de publicação: HISTORICAL ARTICLE; JOURNAL ARTICLE; PORTRAITS [Nm] Nome de substância: 0 (Blood Coagulation Factors) [Em] Mês de entrada: 1801 [Cu] Atualização por classe: 180116 [Lr] Data última revisão: 180116 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171212 [St] Status: MEDLINE [do] DOI: 10.15407/ubj88.02.107

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[PMID]: 28743742 [Au] Autor: Águila S; Izaguirre G; Martínez-Martínez I; Vicente V; Olson ST; Corral J [Ad] Endereço: From the Centro Regional de Hemodonación and Hospital Universitario Morales Meseguer, Universidad de Murcia, Instituto Murciano de Investigación Biosanitaria (IMIB)-Virgen de la Arrixaca, 30003 Murcia, Spain. [Ti] Título: Disease-causing mutations in the serpin antithrombin reveal a key domain critical for inhibiting protease activities. [So] Source: J Biol Chem;292(40):16513-16520, 2017 10 06. [Is] ISSN: 1083-351X [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Antithrombin mainly inhibits factor Xa and thrombin. The reactive center loop (RCL) is crucial for its interactions with its protease targets and is fully inserted into the A-sheet after its cleavage, causing translocation of the covalently linked protease to the opposite end of the A-sheet. Antithrombin variants with altered RCL hinge residues behave as substrates rather than inhibitors, resulting in stoichiometries of inhibition greater than one. Other antithrombin residues have been suggested to interfere with RCL insertion or the stability of the antithrombin-protease complex, but available crystal structures or mutagenesis studies have failed to identify such residues. Here, we characterized two mutations, S365L and I207T, present in individuals with type II antithrombin deficiency and identified a new antithrombin functional domain. S365L did not form stable complexes with thrombin or factor Xa, and the I207T/I207A variants inhibited both proteases with elevated stoichiometries of inhibition. Close proximity of Ile-207 and Ser-365 to the inserted RCL suggested that the preferred reaction of these mutants as protease substrates reflects an effect on the rate of the RCL insertion and protease translocation. However, both residues lie within the final docking site for the protease in the antithrombin-protease complex, supporting the idea that the enhanced substrate reactions may result from an increased dissociation of the final complexes. Our findings demonstrate that the distal end of the antithrombin A-sheet is crucial for the last steps of protease inhibition either by affecting the rate of RCL insertion or through critical interactions with proteases at the end of the A-sheet. [Mh] Termos MeSH primário: Proteínas Antitrombina/química Transtornos Herdados da Coagulação Sanguínea Fator Xa/química Simulação de Acoplamento Molecular Trombina/química [Mh] Termos MeSH secundário: Substituição de Aminoácidos Proteínas Antitrombina/genética Proteínas Antitrombina/metabolismo Domínio Catalítico Fator Xa/genética Fator Xa/metabolismo Feminino Seres Humanos Masculino Mutação de Sentido Incorreto Domínios Proteicos Estrutura Secundária de Proteína Trombina/genética Trombina/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL [Nm] Nome de substância: 0 (Antithrombin Proteins); EC 3.4.21.5 (Thrombin); EC 3.4.21.6 (Factor Xa) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171230 [Lr] Data última revisão: 171230 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170727 [St] Status: MEDLINE [do] DOI: 10.1074/jbc.M117.787325

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[PMID]: 28612396 [Au] Autor: Sivapalaratnam S; Collins J; Gomez K [Ad] Endereço: Department of Haematology, University of Cambridge, Cambridge, UK. [Ti] Título: Diagnosis of inherited bleeding disorders in the genomic era. [So] Source: Br J Haematol;179(3):363-376, 2017 Nov. [Is] ISSN: 1365-2141 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Inherited bleeding disorders affect between 1 in 1000 individuals for the most common disorder, von Willebrand Disease, to only 8 reported cases worldwide of alpha-2-antiplasmin deficiency. Those with an identifiable abnormality can be divided into disorders of coagulation factors (87%), platelet count and function (8%) and the fibrinolytic system (3%). Of the patients registered in the UK with a bleeding disorder, the remaining 2% are unclassifiable. In addition to bleeding symptoms, patients with an inherited bleeding disorder can manifest other abnormalities, making an accurate and complete diagnosis that reflects the underlying molecular pathology important. Although some inherited bleeding disorders can still be easily diagnosed through a combination of careful clinical assessment and laboratory assays of varying degrees of complexity, there are many where conventional approaches are inadequate. Improvements in phenotyping assays have enhanced our diagnostic armoury but genotyping now offers the most accurate and complete diagnosis for some of these conditions. The advent of next generation sequencing technology has meant that many genes can now be analysed routinely in clinical practice. Here, we discuss the different diagnostic tools currently available for inherited bleeding disorders and suggest that genotyping should be incorporated at an early stage in the diagnostic pathway. [Mh] Termos MeSH primário: Transtornos Herdados da Coagulação Sanguínea/diagnóstico Genômica/métodos [Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico Anormalidades Múltiplas/genética Transtornos Herdados da Coagulação Sanguínea/genética Transtornos Plaquetários/diagnóstico Transtornos Plaquetários/genética Diagnóstico Diferencial Genótipo Sequenciamento de Nucleotídeos em Larga Escala/métodos Seres Humanos Achados Incidentais Exame Físico/métodos Testes de Função Plaquetária/métodos Doenças de von Willebrand/diagnóstico Doenças de von Willebrand/genética [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171030 [Lr] Data última revisão: 171030 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170615 [St] Status: MEDLINE [do] DOI: 10.1111/bjh.14796

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[PMID]: 28534116 [Au] Autor: Hayashi Y; Harada Y; Huang G; Harada H [Ad] Endereço: Laboratory of Oncology, School of Life Science, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan. [Ti] Título: Myeloid neoplasms with germ line RUNX1 mutation. [So] Source: Int J Hematol;106(2):183-188, 2017 Aug. [Is] ISSN: 1865-3774 [Cp] País de publicação: Japan [La] Idioma: eng [Ab] Resumo: Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about half of individuals in the family with germ line mutations in RUNX1 develop overt hematological malignancies. The latency is also relatively long as an average age at diagnosis is more than 30 years. Similar to what is observed in sporadic hematological malignancies, acquired additional genetic events cooperate with inherited RUNX1 mutations to progress the overt malignant phase. Reflecting recent increased awareness of hematological malignancies with germ line mutations, FPD/AML was added in the revised WHO 2016 classification. In this review, we provide an update on FPD/AML with recent clinical and experimental findings. [Mh] Termos MeSH primário: Transtornos Herdados da Coagulação Sanguínea/genética Transtornos Plaquetários/genética Subunidade alfa 2 de Fator de Ligação ao Core/genética Estudos de Associação Genética Predisposição Genética para Doença/genética Mutação em Linhagem Germinativa Leucemia Mieloide Aguda/genética [Mh] Termos MeSH secundário: Genes Dominantes/genética Heterozigoto Seres Humanos [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Core Binding Factor Alpha 2 Subunit); 0 (RUNX1 protein, human) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171005 [Lr] Data última revisão: 171005 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170524 [St] Status: MEDLINE [do] DOI: 10.1007/s12185-017-2258-5

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[PMID]: 28256747 [Au] Autor: Hézode C; Colombo M; Bourlière M; Spengler U; Ben-Ari Z; Strasser SI; Lee WM; Morgan L; Qiu J; Hwang P; Robertson M; Nguyen BY; Barr E; Wahl J; Haber B; Chase R; Talwani R; Marco VD; C-EDGE IBLD Study Investigators [Ad] Endereço: Henri Mondor Hospital, Paris, France. [Ti] Título: Elbasvir/Grazoprevir for Patients With Hepatitis C Virus Infection and Inherited Blood Disorders: A Phase III Study. [So] Source: Hepatology;66(3):736-745, 2017 Sep. [Is] ISSN: 1527-3350 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Direct-acting antiviral agents have not been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) infection. The objective of the randomized, placebo-controlled, phase III C-EDGE IBLD study was to assess the safety and efficacy of elbasvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection. One hundred fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites in the United States, Europe, Australia, Canada, Israel, and Thailand. Patients were given an oral, once-daily, fixed-dose combination of EBR/GZR 50 mg/100 mg for 12 weeks and randomized to the immediate-treatment group (ITG) or deferred-treatment group (DTG; placebo followed by active treatment). The primary endpoints were the proportion of patients in the ITG with unquantifiable HCV RNA 12 weeks posttreatment (sustained virological response 12 weeks after completion of study treatment; SVR12) and the comparison of safety in the ITG and DTG. In the ITG, 100 of 107 patients (93.5%) achieved SVR12, 6 relapsed, and 1 was lost to follow-up. SVR12 was achieved in 94.7% (18 of 19), 97.6% (40 of 41), and 89.4% (42 of 47) of patients with sickle cell disease, ß-thalassemia, and hemophilia A/B or von Willebrand disease, respectively. Serious adverse events were reported by 2.8% (n = 3) and 11.5% (n = 6) of patients in the ITG and DTG, respectively. Hemoglobin levels and international normalized ratio values were similar in patients receiving EBR/GZR and placebo; among patients with hemoglobinopathies, change in mean hemoglobin levels was similar in those receiving EBR/GZR compared to those receiving placebo. CONCLUSION: These results add to the expanding pool of data available for EBR/GZR, indicating a high level of efficacy and favorable tolerability in patients with HCV infection. (Hepatology 2017;66:736-745). [Mh] Termos MeSH primário: Benzofuranos/administração & dosagem Transtornos Herdados da Coagulação Sanguínea/complicações Hepatite C Crônica/complicações Hepatite C Crônica/tratamento farmacológico Imidazóis/administração & dosagem Quinoxalinas/administração & dosagem [Mh] Termos MeSH secundário: Administração Oral Adulto Biópsia por Agulha Transtornos Herdados da Coagulação Sanguínea/diagnóstico Transtornos Herdados da Coagulação Sanguínea/tratamento farmacológico Relação Dose-Resposta a Droga Esquema de Medicação Quimioterapia Combinada Feminino Seguimentos Hepacivirus/efeitos dos fármacos Hepatite C Crônica/diagnóstico Seres Humanos Imuno-Histoquímica Testes de Função Hepática Masculino Meia-Idade Valores de Referência Índice de Gravidade de Doença Resultado do Tratamento [Pt] Tipo de publicação: CLINICAL TRIAL, PHASE III; COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL [Nm] Nome de substância: 0 (2-(pyrrolidin-2-yl)-5-(2-(4-(5-(pyrrolidin-2-yl)-1H-imidazol-2-yl)phenyl)benzofuran-5-yl)-1H-imidazole); 0 (Benzofurans); 0 (Imidazoles); 0 (Quinoxalines); 8YE81R1X1J (MK-5172) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171004 [Lr] Data última revisão: 171004 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170304 [St] Status: MEDLINE [do] DOI: 10.1002/hep.29139

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[PMID]: 28196451 [Au] Autor: Su K; Jin Y; Miao Z; Cheng X; Yang L; Wang M [Ad] Endereço: a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , China. [Ti] Título: Phenotypic and genetic analysis of dysprothrombinemia due to a novel homozygous mutation. [So] Source: Hematology;22(6):380-385, 2017 Jul. [Is] ISSN: 1607-8454 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: OBJECTIVE: We study the phenotype and genotype of a novel gene mutation of factor II (FII) that leads to dysprothrombinemia, and do the meta-analysis to illuminate its molecular pathogenesis. It will further contribute to our comprehension of the pathogenesis of this type of disease. METHODS: The prothrombin time (PT), activated partial thromboplastin time (APTT) and the activities of other factors were determined by the one-stage clotting method. The prothrombin antigen was measured with enzyme-linked immunosorbent assay (ELISA). Function of the mutant protein was evaluated by thrombin generation tests. Potential mutations in exons, exon-intron boundaries and 5', 3' untranslated sequences of prothrombin gene were screened by polymerase chain reaction and direct sequencing. Suspected mutations were confirmed by reverse sequencing. The structure change of this protein was analyzed by model and bioinformatics analyses. RESULTS: Phenotypic analysis revealed that the proband had an obviously prolonged PT, APTT, reduced prothrombin activity but normal antigen levels. The other tests were normal. Sequencing analysis detected a homozygous g.26329T>G in the catalytic domain resulting in p.Tyr510Asp. His parents and uncle were heterozygous for this mutation. The thrombin generation test showed that the mutant protein had obstacles in thrombin generation. Bioinformatics and model analyses illuminated that the mutation will be probably damaging and perturbing the structure of Na+-binding site, which will affect the activation of prothrombin. CONCLUSION: This was the first report of such a mutation in the position which was associated with dysprothrombinemia. [Mh] Termos MeSH primário: Transtornos Herdados da Coagulação Sanguínea/diagnóstico Transtornos Herdados da Coagulação Sanguínea/genética Estudos de Associação Genética Homozigoto Mutação Fenótipo Protrombina/genética [Mh] Termos MeSH secundário: Alelos Coagulação Sanguínea Transtornos Herdados da Coagulação Sanguínea/sangue Testes de Coagulação Sanguínea Consanguinidade Feminino Heterozigoto Seres Humanos Masculino Modelos Moleculares Tempo de Tromboplastina Parcial Linhagem Conformação Proteica Protrombina/química Tempo de Protrombina Índice de Gravidade de Doença Relação Estrutura-Atividade Adulto Jovem [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 9001-26-7 (Prothrombin) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170707 [Lr] Data última revisão: 170707 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170216 [St] Status: MEDLINE [do] DOI: 10.1080/10245332.2017.1287332

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[PMID]: 28129322 [Au] Autor: Kotela A; Wilk-Franczuk M; Jaczewska J; Zbikowski P; Legosz P; Ambroziak P; Kotela I [Ad] Endereço: Department of Orthopedics and Traumatology of the Musculoskeletal System, 1st Faculty of Medicine, Medical University of Warsaw, Warsaw, Poland. [Ti] Título: Perioperative Physiotherapy for Total Ankle Replacement in Patients with Inherited Bleeding Disorders: Outline of an Algorithm. [So] Source: Med Sci Monit;23:498-504, 2017 Jan 27. [Is] ISSN: 1643-3750 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: The treatment of end-stage hemophilic arthropathy of the ankle joint remains a controversial problem, and total ankle replacement (TAR) is considered to be a valuable management option. Physiotherapy continues to be an extremely important part of TAR and has a tremendous impact on the outcomes of this procedure. Given the lack of data on the latter, this study details a protocol of perioperative physiotherapy in TAR in patients with inherited bleeding disorders (IBD). The protocol outlined in this paper was devised via consultations within an interdisciplinary group, the authors' own experiences with TAR in hemophilic and non-hemophilic patients, previous reports on this issue in the literature, and patient opinions. Our working group followed the criteria of the International Classification of Functioning, Disability and Health. The algorithm includes 4 physiotherapy phases with specified time frames, aims, interventions, and examples of exercises for each phase. We emphasize the importance of preoperative rehabilitation, and recommend introducing intensive physiotherapy immediately after the surgery, with regard to the wound protection and avoiding full weight-bearing in the first weeks. The intensity of physiotherapy should be adjusted individually depending on individual patient progress. This study details a rehabilitation protocol for TAR in patients with IBDs, which can be equally applicable to clinicians and researchers. Further scientific studies are required to investigate the beneficial effect of different protocols as well as to clarify the effectiveness of various frequencies, durations, and intensities of selected interventions. [Mh] Termos MeSH primário: Artroplastia de Substituição do Tornozelo/métodos Transtornos Herdados da Coagulação Sanguínea/fisiopatologia Artropatias/terapia Modalidades de Fisioterapia [Mh] Termos MeSH secundário: Algoritmos Articulação do Tornozelo/fisiologia Articulação do Tornozelo/cirurgia Artroplastia de Substituição do Tornozelo/reabilitação Seres Humanos Artropatias/cirurgia Assistência Perioperatória/métodos Amplitude de Movimento Articular Suporte de Carga [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 170526 [Lr] Data última revisão: 170526 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170128 [St] Status: MEDLINE

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[PMID]: 28125048 [Au] Autor: De Vilder EY; Debacker J; Vanakker OM [Ad] Endereço: Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium. eva.devilder@ugent.be. [Ti] Título: GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. [So] Source: Int J Mol Sci;18(2), 2017 Jan 25. [Is] ISSN: 1422-0067 [Cp] País de publicação: Switzerland [La] Idioma: eng [Ab] Resumo: Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. As genotype-phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations-a frequent problem in orphan diseases-we demonstrate the crucial role of the horizontally transferred transmembrane domain in developing cardiac and bone manifestations. Moreover, natural history suggests ageing as the principal determinant to develop skin and eye symptoms. VKCFD1 symptoms seemed more severe in patients with both mutations in the same protein domain, though this could not be linked to a more perturbed coagulation factor function. Finally, distinct GGCX functional domains might be dedicated to carboxylation of very specific VKDP. In conclusion, this systematic review suggests that there indeed may be genotype-phenotype correlations for GGCX-related phenotypes, which can guide patient counseling and management. [Mh] Termos MeSH primário: Carbono-Carbono Ligases/genética Carbono-Carbono Ligases/metabolismo Estudos de Associação Genética Genótipo Fenótipo [Mh] Termos MeSH secundário: Transtornos Herdados da Coagulação Sanguínea/diagnóstico Transtornos Herdados da Coagulação Sanguínea/genética Carbono-Carbono Ligases/química Anormalidades Congênitas/diagnóstico Anormalidades Congênitas/genética Olho/patologia Técnicas de Inativação de Genes Aconselhamento Genético Predisposição Genética para Doença Seres Humanos Mutação Polimorfismo de Nucleotídeo Único Domínios e Motivos de Interação entre Proteínas Pele/metabolismo Pele/patologia Vitamina K/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE; META-ANALYSIS; REVIEW [Nm] Nome de substância: 12001-79-5 (Vitamin K); EC 6.4.- (Carbon-Carbon Ligases); EC 6.4.- (glutamyl carboxylase) [Em] Mês de entrada: 1704 [Cu] Atualização por classe: 170428 [Lr] Data última revisão: 170428 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170127 [St] Status: MEDLINE

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[PMID]: 28068306 [Au] Autor: Kotela A; Wilk-Franczuk M; Zbikowski P; Legosz P; Ambroziak P; Kotela I [Ad] Endereço: Department of Orthopaedics and Traumatology of the Musculoskeletal System, 1st Faculty of Medicine, Medical University of Warsaw, Warsaw, Poland. [Ti] Título: Revision Knee Arthroplasty in Patients with Inherited Bleeding Disorders: A Single-Center Experience. [So] Source: Med Sci Monit;23:129-137, 2017 Jan 09. [Is] ISSN: 1643-3750 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: BACKGROUND The results of total knee arthroplasty (TKA) in patients with inherited bleeding disorders (IBDs) are poorer when compared with those in the general population, with a notably higher risk of complications and higher revision rates. Thus, revision procedures are becoming a growing concern in this group of patients. The aim of this study was to evaluate the results of revision TKA in patients with IBD. MATERIAL AND METHODS A retrospective cohort study with longitudinal assessment of hemophilia patients scheduled for revision TKA between January 2010 and September 2015 was performed. The clinical status of the patients was assessed based on the Knee Society Score, and the Numeric Rating Scale was used to assess knee pain severity and patient satisfaction with the surgery. Radiological examination, post-operative complications, and reinterventions were recorded and analyzed. RESULTS Very good results were obtained in all patients treated for aseptic loosening of the implant. However, inferior results were found in cases with infection. All patients operated on for aseptic loosening required only single-stage TKA, whereas patients with infection underwent multiple interventions. Complications were observed only in cases with infection. CONCLUSIONS Our study clearly outlined the differences in results based on failure mode, with far inferior results obtained in cases with infection. Given the lack of data in this area as well as the high specificity of this population, further high-quality studies are needed. [Mh] Termos MeSH primário: Artroplastia do Joelho/métodos Transtornos Herdados da Coagulação Sanguínea/fisiopatologia Hemofilia A/complicações [Mh] Termos MeSH secundário: Artroplastia do Joelho/efeitos adversos Estudos de Coortes Hemofilia A/fisiopatologia Seres Humanos Articulação do Joelho/cirurgia Prótese do Joelho Masculino Meia-Idade Dor/etiologia Satisfação do Paciente Complicações Pós-Operatórias/etiologia Falha de Prótese Amplitude de Movimento Articular/fisiologia Reoperação Estudos Retrospectivos [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 170526 [Lr] Data última revisão: 170526 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170110 [St] Status: MEDLINE

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1			PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2
2	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2
3	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2

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