RESUMO
Rely on DSM-5 criteria and an appropriate rating scale to assess how an individual's inattention, hyperactivity, and impulsivity interfere with functioning in different settings.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Terapia Comportamental/normas , Estimulantes do Sistema Nervoso Central/uso terapêutico , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/terapia , Dimesilato de Lisdexanfetamina/uso terapêutico , Adulto , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Guias de Prática Clínica como Assunto , Adulto JovemRESUMO
Acquired von Willebrand disease is likely underdiagnosed due to the clinical variability in presentation and variety of conditions, including lymphoproliferative and myeloproliferative syndromes, autoimmunity, solid tumors, hypothyroidism, and cardiovascular disease, in which it can present. Pediatric patients with Wilms tumor have been reported in the literature with acquired von Willebrand disease and it has been theorized to occur in other pediatric solid tumors. Here we present the first reported case of acquired von Willebrand disease secondary to osteosarcoma in an adolescent patient, resolving spontaneously with treatment of her underlying disease.
Assuntos
Neoplasias Ósseas/complicações , Osteossarcoma/complicações , Doenças de von Willebrand/etiologia , Adolescente , Testes de Coagulação Sanguínea , Neoplasias Ósseas/terapia , Feminino , Humanos , Osteossarcoma/terapia , Doenças de von Willebrand/diagnósticoRESUMO
Owing to the insidious course and variable presentation, Wilson disease is often diagnosed months to years after the initial symptoms. Although fulminant hepatitis with nonimmune hemolytic anemia is frequently reported, chronic mild hepatitis can occur with bouts of transient hemolytic anemia. We report a 16-year-old female who presented with fatigue, dizziness, and new onset jaundice. She had a hemolytic anemia, although diagnosis of Wilson disease was initially confounded by a family history of autoimmunity with a high erythrocyte sedimentation rate and only mildly elevated bilirubin and aspartate aminotransferase. Macrocytosis, poor liver synthetic function, and low serum alkaline phosphatase led to the diagnosis.
Assuntos
Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etiologia , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Doença Aguda , Adolescente , Autoimunidade , Feminino , Hepatite/diagnóstico , Hepatite/etiologia , Humanos , Icterícia/diagnóstico , Icterícia/etiologia , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Effective ways to prevent arthropathy in severe hemophilia are unknown. METHODS: We randomly assigned young boys with severe hemophilia A to regular infusions of recombinant factor VIII (prophylaxis) or to an enhanced episodic infusion schedule of at least three doses totaling a minimum of 80 IU of factor VIII per kilogram of body weight at the time of a joint hemorrhage. The primary outcome was the incidence of bone or cartilage damage as detected in index joints (ankles, knees, and elbows) by radiography or magnetic resonance imaging (MRI). RESULTS: Sixty-five boys younger than 30 months of age were randomly assigned to prophylaxis (32 boys) or enhanced episodic therapy (33 boys). When the boys reached 6 years of age, 93% of those in the prophylaxis group and 55% of those in the episodic-therapy group were considered to have normal index-joint structure on MRI (P=0.006). The relative risk of MRI-detected joint damage with episodic therapy as compared with prophylaxis was 6.1 (95% confidence interval, 1.5 to 24.4). The mean annual numbers of joint and total hemorrhages were higher at study exit in the episodic-therapy group than in the prophylaxis group (P<0.001 for both comparisons). High titers of inhibitors of factor VIII developed in two boys who received prophylaxis; three boys in the episodic-therapy group had a life-threatening hemorrhage. Hospitalizations and infections associated with central-catheter placement did not differ significantly between the two groups. CONCLUSIONS: Prophylaxis with recombinant factor VIII can prevent joint damage and decrease the frequency of joint and other hemorrhages in young boys with severe hemophilia A. (ClinicalTrials.gov number, NCT00207597 [ClinicalTrials.gov].).
Assuntos
Fator VIII/administração & dosagem , Hemartrose/tratamento farmacológico , Hemofilia A/tratamento farmacológico , Hemorragia/prevenção & controle , Artropatias/prevenção & controle , Criança , Pré-Escolar , Esquema de Medicação , Seguimentos , Hemartrose/complicações , Hemartrose/prevenção & controle , Hemofilia A/complicações , Humanos , Lactente , Infusões Intravenosas , Artropatias/etiologia , Masculino , Resultado do TratamentoAssuntos
Afibrinogenemia/genética , Fibrinogênio/genética , Predisposição Genética para Doença , Mutação Puntual , Acidente Vascular Cerebral/genética , Trombose/genética , Adolescente , Adulto , Sequência de Aminoácidos , Sequência de Bases , Saúde da Família , Feminino , Humanos , Masculino , Dados de Sequência MolecularRESUMO
Although thrombosis is less frequent in children than in adults, it represents a significant source of morbidity and mortality. Multiple factors. both genetic and acquired. contribute to the development of thrombosis in chiidren. Thrombosis in a child warrants investigation of potential underlying prothrombotic conditions. The risk of thrombosis in children with heterozygous deficiencies is not clearly defined, but it appears that children who are heterozygous for more than one risk factor or who have a combination of inherited and acquired defects are at higher risk for thrombosis. Treatment of thrombosis primarily involves a rapidly acting anticoaguiant such as heparin or LMWH to prevent extension, and long-term anticoagulation with warfarin may be instituted to prevent recurrence. Thrombolytic therapy with recombinant tissue plasminogen activator also appears to be safe and effective in children. Prospective and multicenter studies are still needed to clarify the contribution of specific prothrombotic disorders to childhood TE so that evidence-based treatment recommendations can be made.