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1.
Neurosurg Rev ; 43(4): 1109-1116, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31227951

RESUMEN

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.


Asunto(s)
Endoscopía/métodos , Procedimientos Neuroquirúrgicos/métodos , Silla Turca/cirugía , Hueso Esfenoides/cirugía , Protocolos Clínicos , Guías como Asunto , Humanos , Imagen por Resonancia Magnética , Modelos Anatómicos , Alta del Paciente , Atención Perioperativa , Enfermedades de la Hipófisis/diagnóstico por imagen , Enfermedades de la Hipófisis/cirugía , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Silla Turca/diagnóstico por imagen , Hueso Esfenoides/diagnóstico por imagen , Resultado del Tratamiento
2.
Amino Acids ; 52(2): 301-311, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30941575

RESUMEN

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.


Asunto(s)
Carbono/química , Compuestos Férricos/química , Nanoestructuras/química , Poliaminas/química , Puntos Cuánticos/química , Biotecnología , Carbono/metabolismo , Compuestos Férricos/metabolismo , Fluorescencia , Células HeLa , Humanos , Poliaminas/metabolismo , Puntos Cuánticos/metabolismo , Electricidad Estática
3.
Int J Lab Hematol ; 39(6): 620-624, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28722256

RESUMEN

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.


Asunto(s)
Ferritinas/sangre , Linfohistiocitosis Hemofagocítica/sangre , Linfohistiocitosis Hemofagocítica/diagnóstico , Adulto , Anciano , Femenino , Glicosilación , Humanos , Masculino , Persona de Mediana Edad
4.
Phys Chem Chem Phys ; 19(18): 11668-11677, 2017 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-28435954

RESUMEN

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.
Artículo en Inglés | MEDLINE | ID: mdl-25308101

RESUMEN

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.


Asunto(s)
Virus de la Influenza B/aislamiento & purificación , Gripe Humana/complicaciones , Gripe Humana/diagnóstico , Meningoencefalitis/complicaciones , Meningoencefalitis/diagnóstico , Neuritis Óptica/diagnóstico , Neuritis Óptica/patología , Niño , Humanos , Gripe Humana/virología , Masculino , Meningoencefalitis/patología , Nervio Óptico/patología
7.
Infection ; 42(2): 335-42, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24277596

RESUMEN

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.


Asunto(s)
Corticoesteroides/uso terapéutico , Antituberculosos/uso terapéutico , Tuberculosis Ocular/prevención & control , Uveítis/prevención & control , Adulto , Anciano , Femenino , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Recurrencia , Tuberculosis Ocular/tratamiento farmacológico , Tuberculosis Ocular/epidemiología , Tuberculosis Ocular/microbiología , Uveítis/tratamiento farmacológico , Uveítis/epidemiología , Uveítis/microbiología
8.
Clin Oncol (R Coll Radiol) ; 24(3): 162-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21411300

RESUMEN

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.


Asunto(s)
Diferenciación Celular , Radioisótopos de Yodo/uso terapéutico , Proteínas Recombinantes/uso terapéutico , Neoplasias de la Tiroides/terapia , Tirotropina/uso terapéutico , Adenocarcinoma Folicular/tratamiento farmacológico , Adenocarcinoma Folicular/patología , Adenocarcinoma Folicular/radioterapia , Adenocarcinoma Folicular/terapia , Adenocarcinoma Papilar/tratamiento farmacológico , Adenocarcinoma Papilar/patología , Adenocarcinoma Papilar/radioterapia , Adenocarcinoma Papilar/terapia , Adulto , Anciano , Anciano de 80 o más Años , Terapia Combinada , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Estudios Retrospectivos , Factores de Riesgo , Neoplasias de la Tiroides/tratamiento farmacológico , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/radioterapia , Tiroidectomía , Resultado del Tratamiento , Imagen de Cuerpo Entero
9.
Artículo en Inglés | MEDLINE | ID: mdl-24779784

RESUMEN

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.


Asunto(s)
Antioxidantes/análisis , Productos Agrícolas/química , Fertilizantes , Contaminación de Alimentos/prevención & control , Alimentos Orgánicos/análisis , Nitratos/análisis , Residuos de Plaguicidas/análisis , Residuos/análisis , Antioxidantes/economía , Antioxidantes/metabolismo , Artocarpus/química , Artocarpus/crecimiento & desarrollo , Artocarpus/metabolismo , Beta vulgaris/química , Beta vulgaris/crecimiento & desarrollo , Beta vulgaris/metabolismo , Brasil , Carica/química , Carica/crecimiento & desarrollo , Carica/metabolismo , Productos Agrícolas/economía , Productos Agrícolas/crecimiento & desarrollo , Productos Agrícolas/metabolismo , Cymbopogon/química , Cymbopogon/crecimiento & desarrollo , Cymbopogon/metabolismo , Contaminantes Ambientales/análisis , Contaminantes Ambientales/metabolismo , Fertilizantes/efectos adversos , Flavonoides/análisis , Flavonoides/economía , Flavonoides/metabolismo , Alimentos Orgánicos/economía , Hidrocarburos Clorados/análisis , Hidrocarburos Clorados/metabolismo , Ipomoea batatas/química , Ipomoea batatas/crecimiento & desarrollo , Ipomoea batatas/metabolismo , Estiércol , Nitratos/metabolismo , Agricultura Orgánica/métodos , Residuos de Plaguicidas/metabolismo , Fenoles/análisis , Fenoles/economía , Fenoles/metabolismo , Residuos/economía
11.
Urologia ; 76 Suppl 15: 15-21, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-21104678
13.
Haematologica ; 93(1): e6-8, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18166774

RESUMEN

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.


Asunto(s)
Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células T Periférico/diagnóstico , Neoplasias Primarias Secundarias/diagnóstico , Anciano , Médula Ósea/patología , Citometría de Flujo/métodos , Reordenamiento Génico , Humanos , Hibridación in Situ , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células T Periférico/complicaciones , Masculino , Factores de Tiempo , Resultado del Tratamiento
14.
Infection ; 36(2): 174-6, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17926004
15.
Transplant Proc ; 35(8): 3111-5, 2003 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-14697991

RESUMEN

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.


Asunto(s)
Isquemia/metabolismo , Riñón/metabolismo , Fósforo/metabolismo , Circulación Renal/fisiología , Animales , Modelos Animales de Enfermedad , Riñón/irrigación sanguínea , Cinética , Espectroscopía de Resonancia Magnética , Radioisótopos de Fósforo , Técnica de Dilución de Radioisótopos , Porcinos
16.
J Am Assoc Gynecol Laparosc ; 10(3): 316-9, 2003 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-14567804

RESUMEN

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.


Asunto(s)
Antineoplásicos Hormonales/uso terapéutico , Histerectomía , Laparoscopía , Leiomioma/cirugía , Pamoato de Triptorelina/uso terapéutico , Neoplasias Uterinas/cirugía , Femenino , Humanos , Persona de Mediana Edad , Cuidados Preoperatorios , Estudios Prospectivos , Factores de Tiempo , Útero/efectos de los fármacos
17.
Arch Gynecol Obstet ; 266(3): 157-9, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12197556

RESUMEN

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%.


Asunto(s)
Aborto Habitual/cirugía , Histeroscopía/métodos , Infertilidad Femenina/cirugía , Enfermedades Uterinas/cirugía , Adulto , Femenino , Humanos , Embarazo , Resultado del Embarazo , Resultado del Tratamiento
18.
Clin Appl Thromb Hemost ; 8(2): 97-102, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-12121063

RESUMEN

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.


Asunto(s)
Anticonceptivos Orales , Trombosis de la Vena/prevención & control , Anticonceptivos Orales/efectos adversos , Anticonceptivos Orales/sangre , Contraindicaciones , Femenino , Humanos , Guías de Práctica Clínica como Asunto , Factores de Riesgo , Tromboembolia/inducido químicamente , Tromboembolia/prevención & control , Trombosis de la Vena/inducido químicamente
19.
Am J Hematol ; 69(4): 272-6, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11921021

RESUMEN

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.


Asunto(s)
Anemia Hemolítica/inmunología , Enfermedades Autoinmunes/complicaciones , Neoplasias Hepáticas/diagnóstico , Linfoma de Células T/diagnóstico , Neoplasias del Bazo/diagnóstico , Trombocitopenia/inmunología , Anemia Hemolítica/complicaciones , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Autoanticuerpos/sangre , Biopsia , Bleomicina/uso terapéutico , Plaquetas/inmunología , Médula Ósea/patología , Ciclofosfamida/uso terapéutico , Doxorrubicina/uso terapéutico , Reordenamiento Génico de la Cadena gamma de los Receptores de Antígenos de los Linfocitos T , Hepatomegalia , Humanos , Hidrocortisona/uso terapéutico , Leucovorina/uso terapéutico , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/tratamiento farmacológico , Linfoma de Células T/complicaciones , Linfoma de Células T/tratamiento farmacológico , Masculino , Metotrexato/uso terapéutico , Persona de Mediana Edad , Prednisona/uso terapéutico , Receptores de Antígenos de Linfocitos T gamma-delta/análisis , Inducción de Remisión , Neoplasias del Bazo/complicaciones , Neoplasias del Bazo/tratamiento farmacológico , Esplenomegalia , Síndrome , Trombocitopenia/complicaciones , Vincristina/uso terapéutico
20.
Thromb Res ; 104(4): 257-64, 2001 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-11728527

RESUMEN

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.


Asunto(s)
Deficiencia del Factor X/genética , Factor X/genética , Mutación Missense , Adulto , Antígenos/análisis , Análisis Mutacional de ADN , Factor X/inmunología , Factor X/metabolismo , Salud de la Familia , Femenino , Heterocigoto , Humanos , Italia , Masculino , Persona de Mediana Edad , Tiempo de Tromboplastina Parcial , Linaje , Fenotipo
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