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1.
Amino Acids ; 52(2): 301-311, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30941575

RESUMO

The combination of different nanomaterials has been investigated during the past few decades and represents an exciting challenge for the unexpected emerging properties of the resulting nano-hybrids. Spermidine (Spd), a biogenic polyamine, has emerged as a useful functional monomer for the development of carbon quantum dots (CQDs). Herein, an electrostatically stabilized ternary hybrid, constituted of iron oxide-DNA (the core) and spermidine carbon quantum dots (CQDSpds, the shell), was self-assembled and fully characterized. The as-obtained nano-hybrid was tested on HeLa cells to evaluate its biocompatibility as well as cellular uptake. Most importantly, besides being endowed by the magnetic features of the core, it displayed drastically enhanced fluorescence properties in comparison with parent CQDSpds and it is efficiently internalized by HeLa cells. This novel ternary nano-hybrid with multifaceted properties, ranging from fluorescence to superparamagnetism, represents an interesting option for cell tracking.


Assuntos
Carbono/química , Compostos Férricos/química , Nanoestruturas/química , Poliaminas/química , Pontos Quânticos/química , Biotecnologia , Carbono/metabolismo , Compostos Férricos/metabolismo , Fluorescência , Células HeLa , Humanos , Poliaminas/metabolismo , Pontos Quânticos/metabolismo , Eletricidade Estática
2.
Neurosurg Rev ; 43(4): 1109-1116, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31227951

RESUMO

Perioperative management of patients with sellar lesion submitted to endoscopic transsphenoidal neurosurgery (TSS) lacks standardization and therefore it is committed to each center clinical practice. Although neurosurgical procedure remains the same for all sellar lesions, perioperative approach can require different measures depending on the underlying disease. With the aim of standardizing our perioperative procedures and sharing our experience with other centers involved in the management of pituitary disease, we developed a clinical care path for patients with sellar lesions candidate to endoscopic TSS. For the drafting of the following protocol, the national and international guidelines published in the last 5 years have been evaluated and integrated with our center experience accumulated in decades of clinical practice. A steering committee including medical doctors involved in management of patients with pituitary masses at the Padua Hospital reviewed current knowledge on this topic. The committee developed a first draft which was shared with a broader group of medical doctors to reach a preliminary consensus; when it was reached, the clinical care assistance pathway was confirmed, validated, and published in the local web-based health service. We want to present and share our experience with colleagues involved in the perioperative management of pituitary diseases in other centers.


Assuntos
Endoscopia/métodos , Procedimentos Neurocirúrgicos/métodos , Sela Túrcica/cirurgia , Osso Esfenoide/cirurgia , Protocolos Clínicos , Guias como Assunto , Humanos , Imageamento por Ressonância Magnética , Modelos Anatômicos , Alta do Paciente , Assistência Perioperatória , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/cirurgia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia , Sela Túrcica/diagnóstico por imagem , Osso Esfenoide/diagnóstico por imagem , Resultado do Tratamento
3.
Int J Lab Hematol ; 39(6): 620-624, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28722256

RESUMO

INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome characterized by an excessive immune activation. Glycosylated ferritin (GF) level has been proposed as highly specific of HLH. METHODS: We have studied 12 subjects with HLH according to the HLH-04 trial criteria and 11 patients with a clinical and laboratoristic suspicion of HLH. The percentage of GF was measured by an in-house assay. RESULTS: The only biomarkers that were significantly different in the two groups were fraction of GF (P<.001) and the presence of hemophagocytosis in bone marrow (P=.006). Subjects with HLH had significantly lower percentage of GF than patients with other inflammatory conditions mimicking HLH. A fraction of GF ≤20% was strongly consistent with a diagnosis of HLH. CONCLUSIONS: Fraction of GF is useful to identify subjects at high risk for early death and therefore in need of early treatment.


Assuntos
Ferritinas/sangue , Linfo-Histiocitose Hemofagocítica/sangue , Linfo-Histiocitose Hemofagocítica/diagnóstico , Adulto , Idoso , Feminino , Glicosilação , Humanos , Masculino , Pessoa de Meia-Idade
4.
Phys Chem Chem Phys ; 19(18): 11668-11677, 2017 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-28435954

RESUMO

Binary hybrids have been investigated for the past few decades due to the emerging properties of nanoparticle composites. Electrostatically stabilized core-shell nanostructures composed of surface active magnetic nanoparticles (SAMNs) and differently charged carbon nanomaterials display specific electrochemical properties. In this work, a set of binary hybrids that include a new class of magnetic nanoparticles is presented and the electrochemical features of the hybrids are reported. Gallic acid derived carbon dots (GA-CDs), PEG derived graphene dots (PEG-GDs), and quaternized carbon dots (Q-CDs) characterized by different charged groups were used for the preparation of different complexes with SAMNs. Thus, a set of six binary nanomaterials was obtained, and characterized by electrochemical impedance spectroscopy, cyclic voltammetry and chronoamperometry, demonstrating significant differences in the charge transfer resistance, capacitive current, electrochemical performance, and reversibility with respect to the isolated subunits. Among them, the combination of Q-CDs with an excess of SAMNs led to a Q-CD@SAMN hybrid, which displayed peculiar electrocatalytic properties attributable to the influence of the strong electrostatic interactions exerted by Q-CDs on the SAMN surface. Notwithstanding their small fraction (around 1% w/w), Q-CDs oriented the electrocatalysis of SAMNs toward the selective electro-oxidation of polyphenols at low applied potentials (+0.1 V vs. SCE). Finally, the Q-CD@SAMN hybrid was used for the development of a coulometric sensor for polyphenols, composed of a simple carbon paste electrode in a small volume electrochemical flow cell (1 µL), and used for the complete direct electro-oxidation of polyphenols from plant extracts.

6.
J Clin Virol ; 61(3): 463-5, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25308101

RESUMO

Various postinfectious neurological manifestations have been described associated to influenza viruses. Optic neuritis is a serious, often reversible disease reported among several infectious diseases and vaccines complications. We report a case of optic neuritis following an influenza B virus infection in a 10-year-old male.


Assuntos
Vírus da Influenza B/isolamento & purificação , Influenza Humana/complicações , Influenza Humana/diagnóstico , Meningoencefalite/complicações , Meningoencefalite/diagnóstico , Neurite Óptica/diagnóstico , Neurite Óptica/patologia , Criança , Humanos , Influenza Humana/virologia , Masculino , Meningoencefalite/patologia , Nervo Óptico/patologia
7.
Infection ; 42(2): 335-42, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24277596

RESUMO

PURPOSE: Tuberculosis (TB) of the eye is a well-known extrapulmonary localization in high-incidence countries. Data on its relevance in developed countries are scanty. We aim to study the epidemiological and clinical pattern of ocular TB in a tertiary care institution of a western country. METHODS: From 2007 to 2010, consecutive patients with a diagnosis of isolated ocular TB or associated to extraocular TB were recruited. Patients with ophthalmological and clinical features of TB were treated with standard antitubercular therapy (ATT) and steroids in case of concomitant severe ocular inflammation. RESULTS: Seventeen cases of ocular and extraocular TB and 45 cases of isolated ocular TB were identified. The proportion of patients with ocular and extraocular TB in our local district was 8.1 %, with a proportion of 10.6 % for the isolated cases. In Cohort 1, only one patient was symptomatic for ocular impairment, and uveitis without inflammation was the most common presentation. On the contrary, in Cohort 2, all patients had visual impairment, mainly with bilateral involvement. 77.8 % of the patients showed an inflammatory pattern. ATT was administered for at least 9 months, in four cases with a short course of systemic corticosteroids. Eight cases in Cohort 2 showed recurrence after 1 year from diagnosis. CONCLUSIONS: TB of the eye should not be forgotten, even in geographical areas not considered among endemic countries. Ocular evaluation is advisable in patients with pulmonary and extrapulmonary TB, as early detection may allow ATT to preserve visual acuity.


Assuntos
Corticosteroides/uso terapêutico , Antituberculosos/uso terapêutico , Tuberculose Ocular/prevenção & controle , Uveíte/prevenção & controle , Adulto , Idoso , Feminino , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recidiva , Tuberculose Ocular/tratamento farmacológico , Tuberculose Ocular/epidemiologia , Tuberculose Ocular/microbiologia , Uveíte/tratamento farmacológico , Uveíte/epidemiologia , Uveíte/microbiologia
8.
Clin Oncol (R Coll Radiol) ; 24(3): 162-8, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21411300

RESUMO

AIM: Recombinant human thyroid-stimulating hormone (rhTSH) has been approved in Europe as a preparation tool for radioiodine ablation of post-surgical thyroid remnants in patients with low-risk differentiated thyroid cancer (DTC). Published studies report that, both thyroid hormone withdrawal and rhTSH preparation result in similar rates of successful remnant ablation, but few studies have determined the effectiveness of rhTSH preparation on disease recurrence. We sought to determine the clinical outcome, considering both ablation success and disease recurrence, of low-risk DTC patients who underwent (131)I ablation. MATERIALS AND METHODS: This retrospective study describes the clinical outcome of 100 patients treated with (131)I remnant ablation after preparation with rhTSH. After ablation, patients were classified as in complete remission, as having no evidence of persistent disease, or as having clinical recurrence on the basis of a subsequent diagnostic whole body scan with (131)I, stimulated thyroglobulin and cross-sectional imaging studies. RESULTS: Overall assessment of ablation success was verified and obtained in 75% of patients (75/100). Considering only patients who underwent a diagnostic whole body scan and stimulated thyroglobulin without interfering anti-thyroglobulin antibody, complete ablation was obtained in 96% of patients (75/78). After a follow-up of about 4 years, 78 patients are in complete remission: 75 with initial ablation success and three who achieved a complete remission during subsequent follow-up. Among the remaining 22 patients, 21 have no clinical evidence of disease (NCED), indicating the inability to verify the complete remission or to detect residual disease, as in patients with positive thyroglobulin antibody, whereas one has persistent disease demonstrated only by stimulated thyroglobulin. No recurrences were observed. Of four patients initially classified as having persistent disease, one obtained a complete remission and two are now considered NCED. CONCLUSION: Our data confirm the favourable outcome, with low rates of recurrence and persistent disease, of patients with low-risk DTC who underwent (131)I ablation after rhTSH. Moreover, our results compare favourably with those reported in the literature in patients prepared with rhTSH, but also in patients prepared with hormone withdrawal.


Assuntos
Diferenciação Celular , Radioisótopos do Iodo/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Neoplasias da Glândula Tireoide/terapia , Tireotropina/uso terapêutico , Adenocarcinoma Folicular/tratamento farmacológico , Adenocarcinoma Folicular/patologia , Adenocarcinoma Folicular/radioterapia , Adenocarcinoma Folicular/terapia , Adenocarcinoma Papilar/tratamento farmacológico , Adenocarcinoma Papilar/patologia , Adenocarcinoma Papilar/radioterapia , Adenocarcinoma Papilar/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Fatores de Risco , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/radioterapia , Tireoidectomia , Resultado do Tratamento , Imagem Corporal Total
9.
Artigo em Inglês | MEDLINE | ID: mdl-24779784

RESUMO

Different parts of plant foods are generally discarded by consumers such as peel, stalk and leaves, which could however possess a nutritional value. However, few studies have analysed the composition of these marginal foods. The phenolic compound, flavonoid, polyamine, nitrate and pesticide contents of parts of vegetables that are usually discarded--but which were cultivated according to conventional and non-conventional procedures--were analysed to provide suggestions on how to improve the consumption of these parts and to reduce the production of urban solid waste. Few, but significant, differences between the two manuring procedures were observed. Higher nitrate content and the presence of organochlorine pesticides were found in conventional cultivated papaya peel, lemon balm leaves, jack fruit pulp, and beet stalk and peel. Discarded parts of plant foods such as stalk, leaves and peels can be used as a source of antioxidant compounds, such as phenolic compounds.


Assuntos
Antioxidantes/análise , Produtos Agrícolas/química , Fertilizantes , Contaminação de Alimentos/prevenção & controle , Alimentos Orgânicos/análise , Nitratos/análise , Resíduos de Praguicidas/análise , Resíduos/análise , Antioxidantes/economia , Antioxidantes/metabolismo , Artocarpus/química , Artocarpus/crescimento & desenvolvimento , Artocarpus/metabolismo , Beta vulgaris/química , Beta vulgaris/crescimento & desenvolvimento , Beta vulgaris/metabolismo , Brasil , Carica/química , Carica/crescimento & desenvolvimento , Carica/metabolismo , Produtos Agrícolas/economia , Produtos Agrícolas/crescimento & desenvolvimento , Produtos Agrícolas/metabolismo , Cymbopogon/química , Cymbopogon/crescimento & desenvolvimento , Cymbopogon/metabolismo , Poluentes Ambientais/análise , Poluentes Ambientais/metabolismo , Fertilizantes/efeitos adversos , Flavonoides/análise , Flavonoides/economia , Flavonoides/metabolismo , Alimentos Orgânicos/economia , Hidrocarbonetos Clorados/análise , Hidrocarbonetos Clorados/metabolismo , Ipomoea batatas/química , Ipomoea batatas/crescimento & desenvolvimento , Ipomoea batatas/metabolismo , Esterco , Nitratos/metabolismo , Agricultura Orgânica/métodos , Resíduos de Praguicidas/metabolismo , Fenóis/análise , Fenóis/economia , Fenóis/metabolismo , Resíduos/economia
11.
Urologia ; 76 Suppl 15: 15-21, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-21104678
13.
Haematologica ; 93(1): e6-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18166774

RESUMO

Lymphomas of different histologic type can occur in the same patient. Two types of lymphomas can be diagnosed in the same lymph node (composite lymphoma) or in different sites. In the latter case, terms as simultaneous and sequential have been proposed to define the detection of two lymphomas at the same time or at different times, respectively.


Assuntos
Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma de Células T Periférico/diagnóstico , Segunda Neoplasia Primária/diagnóstico , Idoso , Medula Óssea/patologia , Citometria de Fluxo/métodos , Rearranjo Gênico , Humanos , Hibridização In Situ , Linfoma Difuso de Grandes Células B/complicações , Linfoma de Células T Periférico/complicações , Masculino , Fatores de Tempo , Resultado do Tratamento
14.
Infection ; 36(2): 174-6, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17926004
15.
Transplant Proc ; 35(8): 3111-5, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14697991

RESUMO

The assessment of kidney viability before transplantation (with a view of discarding nonviable organs) remains an obstacle to confidently extending organ harvesting to marginal donors. In the present study phosphorus magnetic resonance spectroscopy was used to monitor metabolic changes in (31)P-containing metabolites in isolated porcine kidneys. After various warm ischemia times, the organs were stored at 0 degrees C. Time-dependent changes in the phosphomonoester/inorganic-phosphate ratio were recorded at 0 degrees C were shown to follow a biexponential decay. The first-order kinetic rate constant of the short-time decay was strongly dependent on the warm ischemia time, a result that was discreted in terms of the underlying biochemistry. The metabolic events responsible for the dramatic decrease in phosphomonoester/inorganic phosphate ratio that occur immediately after organ perfusion and storage, suggest that any procedure to minimize organ damage must occur immediately after harvesting.


Assuntos
Isquemia/metabolismo , Rim/metabolismo , Fósforo/metabolismo , Circulação Renal/fisiologia , Animais , Modelos Animais de Doenças , Rim/irrigação sanguínea , Cinética , Espectroscopia de Ressonância Magnética , Radioisótopos de Fósforo , Técnica de Diluição de Radioisótopos , Suínos
16.
J Am Assoc Gynecol Laparosc ; 10(3): 316-9, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-14567804

RESUMO

STUDY OBJECTIVE: To evaluate whether uterine shrinkage induced by gonadotropin-releasing hormone (GnRH) agonists in women with a large uterus (>14 wks) may facilitate total laparoscopic hysterectomy. DESIGN: Randomized, prospective study (Canadian Task Force classification I). SETTING: University-affiliated hospital. PATIENTS: Sixty-two women with symptomatic uterine myomas (size 16-20 wks). INTERVENTIONS: Total laparoscopic hysterectomy for benign pathology. MEASUREMENTS AND MAIN RESULTS: Before surgery, women were assigned, at a ratio of 1:1 by random selection, to receive injections of triptorelin depot 11.25 mg 3 months before surgery (group A) or no treatment (group B). Uterine volume, mean operating time, uterine weight, drop in hemoglobin, intraoperative complications, conversions to laparotomy, and hospital stay were recorded. Triptorelin decreased uterine volume, calculated by ultrasonography, by 26.5% in group A, whereas the volume remained unchanged in group B. Statistical differences were found between groups concerning uterine weight, operating time, and drop in hemoglobin level. Three patients in group B were converted to laparotomy because of uterine size. CONCLUSION: In women with a large uterus, a 3-month preoperative course of GnRH may facilitate laparoscopic hysterectomy, decreasing uterine size, operating time, and blood loss.


Assuntos
Antineoplásicos Hormonais/uso terapêutico , Histerectomia , Laparoscopia , Leiomioma/cirurgia , Pamoato de Triptorrelina/uso terapêutico , Neoplasias Uterinas/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Cuidados Pré-Operatórios , Estudos Prospectivos , Fatores de Tempo , Útero/efeitos dos fármacos
17.
Arch Gynecol Obstet ; 266(3): 157-9, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12197556

RESUMO

141 patients who had a hysteroscopic septum resection of a partial uterine septum (class Vb, American Society for Reproductive Medicine, ASRM) were divided into two groups: Group I (69 patients) presented with infertility and Group II (72 patients) with recurrent abortion. The mean+/-SD post-operative follow up period was 36+/-19.5 months. Thiry-six Group I patients (52.1%) and 38 Group II patients (52.7%) achieved pregnancy, with respective abortion rates of 20% and 25%.


Assuntos
Aborto Habitual/cirurgia , Histeroscopia/métodos , Infertilidade Feminina/cirurgia , Doenças Uterinas/cirurgia , Adulto , Feminino , Humanos , Gravidez , Resultado da Gravidez , Resultado do Tratamento
18.
Clin Appl Thromb Hemost ; 8(2): 97-102, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12121063

RESUMO

Oral contraceptive therapy (OCT) is widely used in the world. It is usually safe and effective but side effects are occasionally seen. Venous thromboembolism is one of the most feared side effects. To avoid this complication adequate guidelines are needed. These have to take into account family history, personal history, and suitable laboratory investigations. The presence of an idiopathic venous thrombosis in the family or in the personal history is of paramount importance. However it is often difficult to ascertain whether a venous thrombosis is idiopathic or not. Even when there is doubt, a coagulation study should be carried out. An adequate coagulation study in this case should include at least an evaluation of antithrombin, protein C, and protein S. A search for homozygosity of factor V Leiden appears advisable. These defects represent absolute contraindications to the use of OCT. Relative contraindications may be represented by other minor coagulation disorders such as heterozygous factor V Leiden, fibrinolysis defects, and a G-to-A 20210 prothrombin abnormality. Other noncoagulation-related conditions such as hypertension, liver damage, and obesity may represent absolute or relative contraindications to the use of OCT.


Assuntos
Anticoncepcionais Orais , Trombose Venosa/prevenção & controle , Anticoncepcionais Orais/efeitos adversos , Anticoncepcionais Orais/sangue , Contraindicações , Feminino , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco , Tromboembolia/induzido quimicamente , Tromboembolia/prevenção & controle , Trombose Venosa/induzido quimicamente
19.
Am J Hematol ; 69(4): 272-6, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11921021

RESUMO

We describe an unusual case of hepatosplenic T-cell lymphoma in a 61-year-old man who presented with fever, hepatosplenomegaly, anemia, and thrombocytopenia. A spleen biopsy was consistent with T-cell lymphoma. Cytogenetic studies did not reveal chromosome abnormalities. Using the polymerase chain reaction approach, clonality of the T-cell receptor gamma-chain gene rearrangement could be demonstrated, while Southern blot analysis disclosed only a germline configuration of the T-cell receptor beta chain genes. Of interest, an immune-mediated mechanism was demonstrated and was most likely responsible for erythrocyte and platelet destruction; this is, therefore, the first report of gamma T-cell lymphoma in association with Evans' syndrome. Initial steroid treatment was efficacious in limiting autoimmunity but constitutional symptoms did not subside. Chemotherapy (MACOP-B) was successful in obtaining complete clinical remission. Finally, thrombocytopenia in gammadelta T-cell lymphoma patients should be routinely evaluated for platelet autoantibodies.


Assuntos
Anemia Hemolítica/imunologia , Doenças Autoimunes/complicações , Neoplasias Hepáticas/diagnóstico , Linfoma de Células T/diagnóstico , Neoplasias Esplênicas/diagnóstico , Trombocitopenia/imunologia , Anemia Hemolítica/complicações , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Autoanticorpos/sangue , Biópsia , Bleomicina/uso terapêutico , Plaquetas/imunologia , Medula Óssea/patologia , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Rearranjo Gênico da Cadeia gama dos Receptores de Antígenos dos Linfócitos T , Hepatomegalia , Humanos , Hidrocortisona/uso terapêutico , Leucovorina/uso terapêutico , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/tratamento farmacológico , Linfoma de Células T/complicações , Linfoma de Células T/tratamento farmacológico , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Receptores de Antígenos de Linfócitos T gama-delta/análise , Indução de Remissão , Neoplasias Esplênicas/complicações , Neoplasias Esplênicas/tratamento farmacológico , Esplenomegalia , Síndrome , Trombocitopenia/complicações , Vincristina/uso terapêutico
20.
Thromb Res ; 104(4): 257-64, 2001 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-11728527

RESUMO

We report a novel mutation in Factor X (FX) gene which results in a phenotype without any bleeding tendency. The proband has been found to be a compound heterozygote between a novel FX true deficiency (Gly(380)-->Arg) and a previously reported dysfunctional mutation Ser(334)-->Pro (FX Marsiglia). Prothrombin time (PT) and partial thromboplastin time (PTT) were moderately prolonged and were fully corrected by the addition of normal serum. Her FX activity level varied between 8% and 19% of normal according to the method used whereas the FX antigen level was 40% of the normal control value. All the exons and intron/exon junctions of the FX gene were studied using a combined approach of polymerase chain reaction and conformation sensitive gel electrophoresis. A transversion G to A in exon 8 resulting in the replacement of Gly380 by Arg was found in the proband, in the father and in a proband's brother, whereas heterozygous FX Marsiglia was present in the proband's mother and her sister. Gly380 is strictly linked to Ser379, a component of the catalytic triad. The substitution of Gly for Arg causes the introduction of a large charged amino acid which could affect the catalytic function of FX leading to secretion problem, accounting for the cross-reactive material (CRM) negative phenotype.


Assuntos
Deficiência do Fator X/genética , Fator X/genética , Mutação de Sentido Incorreto , Adulto , Antígenos/análise , Análise Mutacional de DNA , Fator X/imunologia , Fator X/metabolismo , Saúde da Família , Feminino , Heterozigoto , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Tempo de Tromboplastina Parcial , Linhagem , Fenótipo
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