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1.
Pediatr Int ; 66(1): e15773, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38863279

RESUMO

BACKGROUND: Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare disease caused by acquired factor II (FII) deficiency and lupus anticoagulant. Patients with LAHPS typically present with thrombosis and bleeding. However, little information is available on the evaluation of coagulation potential in patients with LAHPS. We examined global coagulation potentials in patients with LAHPS during the clinical course in this study. METHODS: Coagulation potentials in two pediatric patients with LAHPS were assessed by measuring clotting time (CT) and clot formation time using Ca2+-triggered rotational thromboelastometry (ROTEM), CT and maximum coagulation velocity using clot waveform analysis (CWA), and lag time and peak thrombin using the thrombin generation assay (TGA). The day of admission was defined as day 0. RESULTS: In case 1, the bleeding symptoms disappeared by day 5. However, the TGA and CWA results were markedly lower than normal, although FII activity (FII:C) returned to within the normal range by day 14. In contrast, ROTEM revealed a recovery to near-normal levels (day 14). All coagulation parameters (day 80) were within normal ranges. In case 2, coagulation potential was severely depressed until day 12, although FII:C returned to normal levels. Bleeding symptoms disappeared on day 19, and the ROTEM data revealed that the parameters were close to the normal range. The coagulation parameters in all assays were normalized on day 75. CONCLUSIONS: Recovery of coagulation potential in patients with LAHPS was slower than the recovery of FII:C. Moreover, ROTEM appeared to be clinically useful for assessing coagulation potential in patients with LAHPS.


Assuntos
Hipoprotrombinemias , Inibidor de Coagulação do Lúpus , Tromboelastografia , Humanos , Hipoprotrombinemias/sangue , Hipoprotrombinemias/diagnóstico , Inibidor de Coagulação do Lúpus/sangue , Feminino , Tromboelastografia/métodos , Masculino , Criança , Testes de Coagulação Sanguínea/métodos , Coagulação Sanguínea/fisiologia , Pré-Escolar , Síndrome Antifosfolipídica/sangue , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico
2.
J Pediatr ; 226: 266-273, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32553864

RESUMO

OBJECTIVE: To assess platelet thrombus formation (PTF) under flow conditions in patients with Kawasaki disease. Previously available platelet activation data were limited for nonphysiological shear stress condition. The total thrombus-formation analysis system (T-TAS) was developed for quantitative PTF analysis. STUDY DESIGN: In total, 33 patients with acute Kawasaki disease were assessed. Whole blood samples, obtained immediately before treatment and 1 week and 1 month after treatment, were assessed using the T-TAS with a collagen-coated platelet chip under high shear values (1000 s-1 [PL12] and 2000 s-1 [PL24]). Measures, such as time to reach 5 kPa above the base pressure (T5+α) and area under the curve for flow pressure curve for 10 minutes (AUC10) were analyzed to quantify PTF. RESULTS: Immediately before treatment, the median PL12-T5+α and PL24-T5+α were 3.3 minutes (IQR 2.0-4.5) and 1.3 minutes (0.9-1.9), respectively, and both values were significantly lower in adult controls (3.5 minutes [2.9-6.4] and 2.8 minutes [1.8-4.8]; P = .015 and P < .001, respectively). In addition, the PL12-AUC10 (151.7 U [94.5-279.9]) significantly decreased in adult controls (234.1 U [110.5-306.5], P = .007). By contrast, at 1 week and 1 month after the start of treatment, the T5+α was longer, and the PL12-AUC10 and PL24-AUC10 decreased. CONCLUSIONS: In patients with acute Kawasaki disease, the PTF had an early onset and weak stability.


Assuntos
Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Ativação Plaquetária/fisiologia , Inibidores da Agregação Plaquetária/uso terapêutico , Trombose/etiologia , Trombose/fisiopatologia , Aspirina/uso terapêutico , Pressão Sanguínea/fisiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Dispositivos Lab-On-A-Chip , Masculino , Síndrome de Linfonodos Mucocutâneos/fisiopatologia
3.
Thromb Res ; 179: 1-10, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31055186

RESUMO

INTRODUCTION: ADAMTS13 modulates shear-dependent platelet thrombus formation (PTF) by limited proteolysis of von Willebrand factor (VWF). A high-plasma-ratio of VWF antigen to ADAMTS13 activity (VWF:Ag/ADAMTS13:AC) promotes PTF and aggravates shear-induced inflammation mediated by VWF. A role of ADAMTS13 in Kawasaki disease (KD) remains unknown, however. We investigated the involvement of ADAMTS13-VWF axis in the acute-phase of KD (acute-KD). METHODS: VWF:Ag and ADAMTS13:AC in 77 KD infants were measured at three time-points; immediately before (Pre), one-week (1 W) and one-month (1 M) after intravenous-immunoglobulin (IVIG) treatment. VWF multimer (VWFM) distribution and ADAMTS13-isoelectrofocusing (IEF) patterns were compared between the responders and non-responders to IVIG. RESULTS: A high VWF:Ag (195.7 ±â€¯85.6%, p < 0.05), low ADAMTS13:AC (60.3 ±â€¯23.8%, p < 0.05) and high VWF:Ag/ADAMTS13:AC ratio (3.70 ±â€¯2.12, p < 0.05) at Pre were seen compared to control plasmas. These parameters returned to normal levels time-dependently after IVIG treatment. Non-responders to IVIG demonstrated high VWF:Ag and low ADAMTS13:AC at Pre, and high VWF:Ag/ADAMTS13:AC ratio at 1 W compared to responders, but there were no significant differences in VWFM distribution between both groups. IEF analyses revealed the decreased free form of ADAMTS13 and increased complex form with ADAMTS13 and high-molecular-weight-VWFM at Pre in non-responders. A high VWF:Ag/ADAMTS13:AC ratio was associated with increased white blood cell counts, together with decreased serum albumin and sodium at Pre and 1 W. CONCLUSIONS: A high VWF:Ag/ADAMTS13:AC ratio in acute-KD persisted after primary treatment in non-responders, and unbalanced substrate-to-enzyme ratio appeared to associate with vascular endothelial damage. Analysis of existing mode of ADAMTS13 may help to clarify pathogenesis of IVIG resistance in acute-KD.


Assuntos
Proteína ADAMTS13/sangue , Imunoglobulinas Intravenosas/administração & dosagem , Síndrome de Linfonodos Mucocutâneos/sangue , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Fator de von Willebrand/metabolismo , Doença Aguda , Aspirina/administração & dosagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Inibidores da Agregação Plaquetária/administração & dosagem , Transdução de Sinais/efeitos dos fármacos
4.
Hinyokika Kiyo ; 59(11): 743-7, 2013 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-24322414

RESUMO

A 5-year-old boy was diagnosed with febrile urinary tract infection (UTI) at the age of 2 months. Voiding cystourethrography (VCUG) showed grade IV reflux on the left side. Left ureterocystoneostomy was performed at 11 months because of recurrent febrile UTI under antibiotic prophylaxis. VCUG 1 year after surgery showed no reflux. The patient developed acute focal bacterial nephritis (AFBN) when he was 4 years and 2 months of age, and experienced 3 episodes of AFBN during the following 9 months. The patient had normal urinary and bowel habits. Although VCUG showed no recurrence of reflux, AFBN developed in spite of antibiotic prophylaxis. Positioning the instillation of contrast (PIC) cystography under general anesthesia demonstrated the left occult reflux. Endoscopic injection with Deflux○R was performed simultaneously. PIC cystography is a useful examination in patients with persistent, repeated UTI episodes without any signs of reflux employing conventional diagnostic modalities.


Assuntos
Bexiga Urinária/diagnóstico por imagem , Refluxo Vesicoureteral/diagnóstico por imagem , Pré-Escolar , Meios de Contraste/administração & dosagem , Humanos , Masculino , Complicações Pós-Operatórias , Radiografia , Recidiva , Infecções Urinárias/diagnóstico por imagem , Refluxo Vesicoureteral/cirurgia
5.
Paediatr Anaesth ; 21(8): 865-71, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21251146

RESUMO

BACKGROUND: Systemic coagulation disorders after cardiac surgery represent serious postoperative complications. There have been few reports, however, identifying preoperative coagulation tests that predict postoperative bleeding. The aim of the present study was to investigate the relationship between postoperative hemorrhage and coagulation parameters determined by global coagulation assays, to define potential predictive markers. METHODS: Twenty-one pediatric patients were enrolled. Blood samples were collected before and 24 h after cardiac surgery. Laboratory investigations included platelet count, hematocrit, classical coagulation tests [prothrombin time, activated partial thromboplastin time, thrombin-antithrombin complex (TAT)], rotation thromboelastometry (ROTEM), and the thrombin generation test (TGT). The duration of the surgical procedure was recorded. Chest tube drainage was monitored for 24 h after operation as an index of postoperative hemorrhage. RESULTS: Comparisons between preoperative and postoperative results indicated that TAT increased significantly after operation, whereas ROTEM parameters did not show a hypercoagulable pattern. Preoperative endogenous thrombin potential (ETP) measured in the TGT and clot formation time (CFT) in the ROTEM correlated with chest tube drainage. The classical coagulation tests were not informative. Postoperatively, peak height and ETP in TGT, all ROTEM parameters, and duration of surgery were correlated with chest tube drainage. Duration of surgery was correlated with postoperative ROTEM parameters but not with TGT. Postoperative maximum clot firmness and AUC were correlated with platelet count decrease ratio. CONCLUSIONS: The preoperative CFT and ETP provide useful indices for predicting postoperative chest tube drainage volume. In addition, the duration of surgery also correlated with chest tube drainage and affected ROTEM parameters.


Assuntos
Testes de Coagulação Sanguínea , Procedimentos Cirúrgicos Cardíacos , Tubos Torácicos , Hemorragia Pós-Operatória/epidemiologia , Adolescente , Área Sob a Curva , Criança , Pré-Escolar , Drenagem , Feminino , Hemostasia , Humanos , Lactente , Recém-Nascido , Masculino , Tempo de Tromboplastina Parcial , Contagem de Plaquetas , Cuidados Pós-Operatórios , Hemorragia Pós-Operatória/diagnóstico , Valor Preditivo dos Testes , Período Pré-Operatório , Tempo de Protrombina , Tromboelastografia , Fatores de Tempo
6.
Brain Dev ; 29(8): 525-8, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17383133

RESUMO

We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter involvement and a characteristic periventricular rim, satisfying the diagnostic criteria proposed by van der Knaap, except for MRI contrast. R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.


Assuntos
Doença de Alexander/diagnóstico , Doença de Alexander/genética , Encéfalo/patologia , Proteína Glial Fibrilar Ácida/genética , Imageamento por Ressonância Magnética , Doença de Alexander/fisiopatologia , Humanos , Hidrocefalia/etiologia , Lactente , Recém-Nascido , Espectroscopia de Ressonância Magnética , Masculino , Mutação , Convulsões/etiologia
8.
Eur J Pediatr ; 163(11): 675-7, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15322866

RESUMO

UNLABELLED: In patients with autosomal dominant polycystic kidney disease (ADPKD), intracranial aneurysms (ICAs) are extrarenal manifestations and may result in serious and potentially fatal outcome following rupture. Although ICAs are a well-known complication of ADPKD, nearly all cases of ICA occurring in the context of ADPKD are adults. Here, we report the case of a Japanese girl with ADPKD who developed a subarachnoid haemorrhage (SAH) due to a ruptured ICA at the age of 4 years. CONCLUSION: This report is intended to raise awareness that the use of noninvasive screening techniques such as three-dimensional CT angiography or magnetic resonance angiography to detect intracranial aneurysms should also be performed in paediatric patients with autosomal dominant polycystic kidney disease.


Assuntos
Aneurisma Roto/etiologia , Aneurisma Intracraniano/etiologia , Rim Policístico Autossômico Dominante/complicações , Artéria Basilar/diagnóstico por imagem , Angiografia Cerebral , Criança , Feminino , Humanos , Hemorragia Subaracnóidea/etiologia
9.
Int J Hematol ; 79(3): 303-6, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15168603

RESUMO

Hemophilia A is genetically very heterogeneous because disease-causing mutations involving deletions, point mutations, insertions, and inversions are scattered throughout the factor VIII gene. Of these mutations, inversions, which are intrachromosomal recombinations between int22h-1 (intron 22 homologous region 1) and 1 of 2 other extragenic copies located 500 kilobases upstream, are the more frequently found defects, especially in patients with severe hemophilia A. Reportedly, approximately half of all severe hemophilia A patients have inversions in intron 22. A group of unrelated patients from the middle of Japan with severe hemophilia A were screened by Southern blot analysis for gene inversions. Forty-two of 100 severely affected patients presented factor VIII gene rearrangements. Of these patients, 36 exhibited the distal type of inversion, and 6 exhibited the proximal type. No other variant type of recombination was observed. In this study, neither the prevalence of inhibitor development against factor VIII nor the frequency of sporadic cases in the group presenting gene inversions was significantly different from that in the group without chromosomal inversions. Southern blot analysis successfully detected a carrier in a hemophilia family for which no patient was available. Genetic counseling of patients with severe hemophilia A and their families will be considerably improved, because the inversions occur in 42% of the Japanese patients with severe hemophilia.


Assuntos
Inversão Cromossômica , Fator VIII/genética , Hemofilia A/genética , Epidemiologia Molecular , Southern Blotting , Desoxirribonucleases de Sítio Específico do Tipo II , Saúde da Família , Humanos , Incidência , Japão/epidemiologia , Linhagem
10.
Haematologica ; 89(6): 696-703, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15194537

RESUMO

BACKGROUND AND OBJECTIVES: Hemophilia A patients with inhibitors can be treated effectively with immune tolerance induction therapy (ITI). One of the underlying mechanisms of ITI is conceived to be a neutralizing activity of anti-idiotypic antibodies on inhibitors. The goal of the present study was to develop an uncomplicated method for assessing antiidiotypic antibodies and to prove the advent of anti-idiotypic antibodies in ITI. DESIGN AND METHODS: We studied a total of 26 plasma samples obtained from 9 hemophilic inhibitor patients who were treated with ITI. The samples were investigated with a novel method for detecting anti-idiotypic antibodies based on a liquid phase blocking immunoprecipitation. RESULTS: Plasma anti-factor VIII (FVIII) antibody titer was reduced by adding plasma from patients who had received completely successful ITI. This anti-FVIII antibody-neutralization activity of the plasma was impaired by treating the plasma with protein G beads. In addition, treating inhibitor plasma from patients in whom ITI had been unsuccessful with FVIII affinity beads resulted in the development of the anti-FVIII antibody-neutralization activity. Furthermore, the anti-FVIII antibody-neutralization activity of anti-FVIII antibody-depleted plasma obtained in a late period of ITI on inhibitor plasmas obtained during ITI increased over time. INTERPRETATION AND CONCLUSIONS: Our results suggest that; (i) plasma from patients in whom ITI was completely successful contained an anti-FVIII antibody-neutralization factor; (ii) the anti-FVIII antibody-neutralization factor was in the IgG fraction (i.e., the factor would be anti-idiotypic antibodies), and (iii) anti-idiotypic antibodies existed even in plasma from patients in whom ITI was unsuccessful. Our observations support the notion that the mechanism of ITI is associated with the development of anti-idiotypic antibodies.


Assuntos
Anticorpos Anti-Idiotípicos/sangue , Formação de Anticorpos , Hemofilia A/terapia , Tolerância Imunológica/imunologia , Anticorpos Anti-Idiotípicos/imunologia , Autoanticorpos/sangue , Autoanticorpos/imunologia , Fator VIII/imunologia , Hemofilia A/imunologia , Humanos
12.
Masui ; 52(1): 73-5, 2003 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-12632627

RESUMO

Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis due to hyperfibrinolysis as a result of decreased PAI-1 activity. A 21-year-old male with congenital PAI-1 deficiency underwent wisdom teeth extraction of the mandible under general anesthesia using propofol, nitrous oxide, sevoflurane, fentanyl, and vecuronium. No complications including prolonged bleeding and rebleeding after the operation were observed because hemostatic management was successful by using intravenous tranexamic acid.


Assuntos
Anestesia Geral , Dente Serotino/cirurgia , Inibidor 1 de Ativador de Plasminogênio/deficiência , Extração Dentária , Adulto , Antifibrinolíticos/administração & dosagem , Perda Sanguínea Cirúrgica/prevenção & controle , Humanos , Masculino , Assistência Perioperatória , Ácido Tranexâmico/administração & dosagem , Resultado do Tratamento
13.
Eur J Pediatr ; 161(11): 609-13, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12424587

RESUMO

UNLABELLED: Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Citrin, an aspartate glutamate carrier in mitochondria, is an essential component of the malate-aspartate NADH shuttle. Recently, citrin deficiency has been reported to manifest as neonatal intrahepatic cholestasis. We report here five cases with neonatal intrahepatic cholestasis caused by citrin deficiency. Genetic diagnosis revealed compound heterozygotes of 851del4/IVS11 + 1G-->A in two patients, IVS11 + 1G-->A/E601X, and IVS11 + 1G-->A/unknown in each one patient and homozygote for S225X in one patient. All cases revealed high levels of alpha-fetoprotein, which are not observed in CTLN2 patients. The condition was self-limiting and spontaneously disappeared after 5-7 months of age in four patients. However, one patient developed hepatic dysfunction from the age of 6 months and required a living-related liver transplantation at the age of 10 months. The patient showed complete recovery after transplantation, and now at the age of 3 years, shows normal growth and mental development. CONCLUSION: we report the first case of neonatal intrahepatic cholestasis caused by citrin deficiency with severe hepatic dysfunction requiring a living-related liver transplantation. Patients with this disorder should be followed up carefully, even during infancy.


Assuntos
Proteínas de Ligação ao Cálcio/deficiência , Colestase Intra-Hepática/etiologia , Colestase Intra-Hepática/cirurgia , Citrulinemia/fisiopatologia , Transplante de Fígado , Transportadores de Ânions Orgânicos/deficiência , Colestase Intra-Hepática/congênito , Feminino , Humanos , Lactente , Recém-Nascido , Doadores Vivos , Masculino , Proteínas de Membrana Transportadoras/genética , Proteínas de Transporte da Membrana Mitocondrial , Proteínas Mitocondriais/genética , Mutação , Remissão Espontânea
14.
Thromb Haemost ; 87(3): 436-41, 2002 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11916076

RESUMO

The lower detection limit of the conventional one-stage aPTT based clotting assay for determining FVIII:C levels is generally 1.0-2.0 IU/dl. Consequently, it has been impossible to study the clinical significance of levels of FVIII:C less than 1.0 IU/dl. Using a photo-optical automated coagulation analyzer, the Organon Teknika MDA II, we have performed qualitative and quantitative aPTT waveform analysis and measured FVIII:C levels by automated one-stage aPTT clotting assay in 36 severely affected Hemophilia A patients. Qualitative waveform analysis showed clear evidence of individual differences in the waveform profile suggesting differing coagulant activity from patient to patient. The FVIII:C level was less than 0.2 IU/dl in 23 cases and levels of FVIII:C between 0.2 and 1.0 IU/dl could be discriminated in 13 patients. The FVIII:C level in these patients was closely correlated with the minimum value of the second derivative of the aPTT waveform (Min2). This is a measure of the acceleration of change in optical transmission at the initiation of coagulation. Furthermore, the correlation of the


Assuntos
Fator VIII/análise , Testes de Coagulação Sanguínea/instrumentação , Testes de Coagulação Sanguínea/normas , Hemofilia A/sangue , Hemofilia A/diagnóstico , Humanos , Cinética , Tempo de Tromboplastina Parcial , Valores de Referência , Sensibilidade e Especificidade
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