RESUMEN
UNLABELLED: A 17-year old man was sent to us for coagulation testing because he suffered from acute bleeding which started immediately after making an incision in the skin for a urological surgery. The patient had a history of mild bleeding symptoms (nose bleeds during the childhood, gingival bleeds). Results of laboratory investigations: Blood group 0, closure times (PFA 100):132 s (ADP/collagen) and 300 s (epinephrine/collagen), VWF antigen 57%, VWF activity 50%, factor VIII activity 66%, factor XIII activity 59%. The results were confirmed by further investigations. Additionally, two relevant genetic findings were obtained: first a heterozygous base exchange in exon 11 of the factor 13A gene -Thr 449 (ACT)>Ile (ATT)-, not described before the completion of the study, and second the homozygous state of the 807 C-allele within the integrin alpha2 gene. The patient inherited the base exchange in the factor 13A gene from his mother. Homozygosity of the 807 C allele in the integrin alpha2 gene is associated with a very low expression of the platelet collagen receptor. Individuals with low VWF due to blood group 0 and low platelet collagen receptor density often exhibit a bleeding tendency, e.g. bleedings from mucosal membranes or menorrhagia in females. CONCLUSION: In our opinion the light factor XIII deficiency in our patient is coincidental and not the sole cause of bleeding.
Asunto(s)
Exones/genética , Deficiencia del Factor XIII/genética , Factor XIII/genética , Polimorfismo de Nucleótido Simple/genética , Sistema del Grupo Sanguíneo ABO/genética , Adolescente , Sustitución de Aminoácidos , Deficiencia del Factor XIII/sangre , Femenino , Hemorragia/sangre , Hemorragia/genética , Humanos , Masculino , Núcleo FamiliarRESUMEN
Neonatal alloimmune thrombocytopenia (NAIT) occurs when maternal alloantibodies to antigens presented on foetal platelets cause their immune destruction. Whether human leucocyte antigen (HLA) antibodies can cause NAIT is controversial. Here, a patient was described who suffered from a NAIT caused by an HLA-B27 antibody. Sera from the mother and the newborn were tested for human platelet antigen antibodies and HLA antibodies by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay, solid phase-linked immunosorbent assay (ELISA), lymphocytotoxicity assay (LCT) and flow cytometric analysis. No antibodies against cluster designation (CD)109 and platelet glycoproteins of the father were found in patient's and mother's serum. However, HLA ELISA was used to identify HLA antibody in both sera. The antibody was specified as HLA-B27 antibody. Typing results showed that the father descended HLA-B27 antigen on patient and his brother. The mother was HLA-B27 negative. It is most conceivable that the previous pregnancy of the mother induced the production of anti-HLA-B27 antibody, which crossed the placenta and subsequently caused an NAIT in the case presented.
Asunto(s)
Enfermedades Autoinmunes/sangre , Transfusión Fetomaterna/sangre , Antígeno HLA-B27 , Isoanticuerpos/sangre , Púrpura Trombocitopénica/sangre , Enfermedades Autoinmunes/inmunología , Femenino , Transfusión Fetomaterna/complicaciones , Transfusión Fetomaterna/inmunología , Antígeno HLA-B27/inmunología , Humanos , Recién Nacido , Isoanticuerpos/inmunología , Masculino , Embarazo , Púrpura Trombocitopénica/etiología , Púrpura Trombocitopénica/inmunologíaRESUMEN
Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe. Four novel mutations (IVS2+1G>C, Arg247 Cys, Glu265 Lys, Asp343 His) were detected. The relationships between genotypes of mutations and polymorphisms of the FVII gene, FVII deficiency, and clinical phenotype were investigated. Homozygosity of the Phe4 Leu, IVS4+1G>A, Cys135 Arg, Ala244 Val, and Ala294 Val;404delC and the double heterozygosity of Tyr68 Cys / IVS3-1G>A, Val252 Met / IVS2+5G>T, Val281 Phe / Cys135 Arg, Ala294 Val / Val281 Phe, Ala294 Val;404delC / Val281Phe, Ala294 Val;404delC / Arg152 stop, Ala294Val;404delC / Gln(-35) stop, Ala294 Val / Val252 Met, Ala294 Val / Gly156 Asp, and Thr359 Met / Asp242 His were related to clinical symptoms. Double heterozygotes for Arg247 Cys / IVS2+1G>C, Ala206 Thr / Pro303 Arg, Leu(-20) Pro / Val252 Met as well as IVS7+7 /Ala294 Val, IVS7+7 /Ala206 Thr, and IVS7+7 / Met298 Ile were asymptomatic. The clinical symptomatology is rather poor in correlation with the FVII activity. Concerning the clinical phanotype, a correlation seems to exist between specific mutations and clinical symptoms.
Asunto(s)
Deficiencia del Factor VII/genética , Deficiencia del Factor VII/fisiopatología , Factor VII/genética , Femenino , Humanos , Masculino , Mutación , Polimorfismo GenéticoAsunto(s)
Síndrome HELLP/diagnóstico , Trastornos Puerperales/diagnóstico , Adulto , Cuidados Críticos/métodos , Femenino , Síndrome HELLP/terapia , Humanos , Recién Nacido , Pruebas de Función Hepática , Trabajo de Parto Prematuro/etiología , Recuento de Plaquetas , Embarazo , Trastornos Puerperales/terapiaRESUMEN
Several publications during the past 10-15 years report on the identification of acarboxyprothrombin (PIVKA II) in a varying proportion of examined newborn and babies (1.9 to 81.5%). These findings prove that the relevant infants were suffering from vitamin K deficiency. Hence, the researchers recommend to continue the prophylactic administration of Vitamin K to newborn. Another argument in favour of vitamin K prophylaxis is supplied by the results of epidemiological studies on the frequency of haemorrhages in newborn and babies caused by vitamin K deficiency. In respect of avoidance of haemorrhages, a single intramuscular injection of vitamin K appears to be the safest mode of application, but repeated peroral administration seems to be practically equally effective. The very frequently performed intramuscular injection of vitamin K is criticised not only because of possible local complications but also because of the greatly enhanced vitamin K concentrations in the blood after the injection. This enhanced concentration is accused of being responsible for the increased risk of malignant tumour growth in those babies who received vitamin K via the i.m. route, compared with the children who had not been given any injection or to whom vitamin K had been administered orally. For this reason vitamin K prophylaxis should be effected in newborn via the oral route (repeated administration), whereas the i.m. route should be an exception. Recommendations to this effect are already on record.
Asunto(s)
Deficiencia de Vitamina K/prevención & control , Vitamina K/administración & dosificación , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Trastornos Hemorrágicos/sangre , Trastornos Hemorrágicos/prevención & control , Humanos , Recién Nacido , Tiempo de Protrombina , Vitamina K/sangre , Deficiencia de Vitamina K/sangreRESUMEN
We describe here an newborn infant born in the 39th week of gestation with an early onset sepsis caused by group B streptococci. The intravenous administration of antibiotics and immunoglobulin preparation was unable to prevent the fatal outcome. The boy died after 16 hours of life. In the maternal serum a marked deficiency of IgG 2 and IgG 4 could be demonstrated. According to the results from the literature it seems possible that partial immunodeficiencies are important factors in the pathogenesis of the B-streptococcal disease of the newborn.
Asunto(s)
Bacteriemia/inmunología , Deficiencia de IgG/inmunología , Inmunidad Materno-Adquirida/inmunología , Inmunoglobulina G/clasificación , Infecciones Estreptocócicas/inmunología , Streptococcus agalactiae/inmunología , Humanos , Inmunización Pasiva , Inmunoglobulina G/análisis , Recién Nacido , MasculinoRESUMEN
A case report on a 6-year-old boy suffering from the extremely rare Hutchinson-Gilford syndrome (progeria) is presented. The results of histopathological and immunohistological examination of the scar-like skin lesions are reported. Subcutaneous amorphous nodules were eosinophilic, PAS- und elastica-negative und remained unstained with antibodies against collagen type IV, vimentin, and collagenase. The dense perivascular infiltration consisted of CD4+, CD8-, alpha-1-antichymotrypsin-, MAC 387-, and some vimentin-positive cells. Perinodular blood vessels were more abundant and had a thickened wall. Collagen bundles were swollen. The epidermis appeared atrophic with focal basal cell degeneration.
Asunto(s)
Progeria/diagnóstico , Tejido Adiposo/patología , Niño , Colágeno/metabolismo , Humanos , Técnicas para Inmunoenzimas , Masculino , Progeria/genética , Progeria/patología , Piel/patologíaRESUMEN
This report documents the results of coagulation studies in a 15-year old boy with hepatic disease of possibly autoimmune origin. Thrombin- and reptilase clotting times were prolonged. The results of fibrinogen determinations with different methods (heat precipitation, kinetic assay according to Clauss) lead to the assumption of a qualitative anomaly of fibrinogen (dysfibrinogenaemia). Investigations with purified fibrinogens from the patient and a healthy control confirmed this assumption. The thrombin clotting time of purified fibrinogen from the patient was clearly prolonged in comparison to the purified fibrinogen from a healthy control. The fibrin monomers of the patient exhibited impaired polymerization. No structural abnormalities were detected by electrophoretic techniques, particularly the thrombin-induced release of fibrinopeptides was found to be normal. The coagulation abnormalities resolved after glucocorticoid administration.
Asunto(s)
Afibrinogenemia/sangre , Hepatopatías/sangre , Adolescente , Enfermedades Autoinmunes , Pruebas de Coagulación Sanguínea , Fibrinógeno/química , Humanos , Hepatopatías/tratamiento farmacológico , Hepatopatías/inmunología , Masculino , Prednisolona/uso terapéutico , Tiempo de TrombinaRESUMEN
The platelets of haemophilic patients produce after stimulation with thrombin (5 NIH-units) a significantly reduced amount of malondialdehyde in comparison to the platelets of healthy children of the same age. There is a positive correlation between the platelet count in citrated whole blood and malondialdehyde production in the group of healthy children, however the same correlation is negative in adults and strongly negative in haemophiliacs. Because of the 24 hour-intervals between the last substitution and investigation in the majority of haemophilic patients, the reduced MDA-production of their platelets seems to be the result of side effects of the administration of plasma fractions. On the other hand, the reduced capacity for the MDA-production of the platelets of haemophiliacs can be explained as the result of the release reaction of platelets after haemostasis activation following bleedings.
Asunto(s)
Plaquetas/metabolismo , Hemofilia A/sangre , Malondialdehído/sangre , Adulto , Niño , Hemofilia A/terapia , Humanos , Valores de ReferenciaRESUMEN
A qualitative abnormality of fibrinogen was found in a boy aged 3 years and 6 months. It was recognized by prolonged prothrombin-, thrombin- and reptilase clotting times. There was also a difference between the results of different fibrinogen assays. The same constellation was identified in additional 7 members of the family belonging to 3 generations. No bleeding or thrombotic symptoms exist. The mode of inheritance of the fibrinogen variant (fibrinogen Jena) seems to be autosomal-dominant.
Asunto(s)
Trastornos de la Coagulación Sanguínea/genética , Fibrinógenos Anormales/genética , Trastornos de la Coagulación Sanguínea/diagnóstico , Pruebas de Coagulación Sanguínea , Preescolar , Humanos , Masculino , LinajeAsunto(s)
Trastornos de la Coagulación Sanguínea/sangre , Obesidad/sangre , Tromboelastografía , Niño , Humanos , RiesgoAsunto(s)
Ácidos Grasos/sangre , Hemostasis , Lípidos/sangre , Obesidad/sangre , Niño , Femenino , Fibrinógeno/metabolismo , Humanos , Masculino , Agregación Plaquetaria , Recuento de PlaquetasRESUMEN
Spectrin-free erythrocytic vesicles isolated from outdated liquid-preserved blood samples show a distinct increase of the clot-promoting activity compared with membrane phospholipid equivalents of intact erythrocytes. We suppose that, among other remodelling processes, local spectrin detachment from the inner membrane surface may trigger a flip-flop-mediated disturbance of the membrane lipid asymmetry. The interactions of spectrin with the cytoplasmic membrane surface seem to be essential for the structural membrane integrity including the lipid asymmetry.
Asunto(s)
Coagulación Sanguínea , Membrana Eritrocítica/análisis , Eritrocitos/análisis , Lípidos de la Membrana , Proteínas de la Membrana/metabolismo , Espectrina/metabolismo , Conservación de la Sangre , Glicoproteínas/metabolismo , Humanos , Fosfolípidos/análisis , Tripsina/farmacologíaRESUMEN
Factor VIII coagulation activity (VIII:C) and factor VIII associated antigen (VIII:AGN) were determined in healthy newborns and in children with charging perinatal factors ("risk children"). VIII:C values of healthy newborns may be compared with those of grown-ups with normal coagulation. Risk children have somewhat higher values than newborns, the difference, however, being statistically not significant. The concentration of VIII:AGN is clearly increased in both groups on the first day of life. Moreover, VIII:AGN is being eliminated more slowly in risk children. The increased VIII:AGN concentrations are considered as a sequel of stress conditions caused by birth, whereas the discrepancy between VIII:C and VIII:AGN is due to a thrombin effect.
Asunto(s)
Factor VIII/fisiología , Enfermedades del Recién Nacido/inmunología , Isoantígenos/inmunología , Estrés Fisiológico , Pruebas de Coagulación Sanguínea , Cesárea , Femenino , Humanos , Recién Nacido , Complicaciones del Trabajo de Parto , Embarazo , RiesgoRESUMEN
Factor VIII procoagulant activity and factor VIII related antigen were examined in 20 full-term and preterm newborn infants during the first days of life. The control group involved 15 adults volunteers. Factor VIII activity was estimated by a one-stage test and factor VIII related antigen was determined by immunelectrophoresis according to Laurell, using our own rabbit antiserum. The following results were obtained:--Factor VIII activity during the first 3 days of life did not differ from the normal range of the adult controls.--The concentration of factor VIII related antigen in newborns was markedly higher than in adults on the first, and to a lesser extent on the second, day of life.--The antigen concentration decreases on the second and following days of life to adult levels. The cause of this discrepancy cannot be completely explained but possible reasons are discussed.