Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/terapia , Transplante de Células-Tronco , Adulto , Idoso , Quimioterapia Adjuvante/métodos , Estudos de Coortes , Terapia Combinada , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Genes bcl-2 , Genes myc , Humanos , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/mortalidade , Masculino , Pessoa de Meia-Idade , Prognóstico , Transplante de Células-Tronco/métodos , Transplante AutólogoRESUMO
The mucopolysaccharide storage diseases express themselves clinically with a wide variety of abnormalities, including growth and mental retardation, skeletal abnormalities, clouded corneas, nerve compression syndromes, upper airway obstruction and cardiovascular involvement, to name the most common. In most cases the cause of early death is cardiorespiratory failure secondary to cardiovascular involvement and upper airway obstruction. The findings of cardiac ultrasound examination in 29 children, adolescents and young adults are presented. In addition to the previously well-described abnormalities of the mitral and aortic valves in several types of mucopolysaccharide storage disease, we report patchy involvement in some cases, 3 instances of asymmetric septal hypertrophy not previously reported in mucopolysaccharide storage diseases, cardiac involvement in half of our patients with Sanfilippo syndrome and a lack of age-related severity of cardiac involvement even within the specific syndromes.
Assuntos
Mucopolissacaridoses/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Ecocardiografia , Feminino , Cardiopatias/complicações , Humanos , Lactente , Lisossomos/análise , Masculino , Mucopolissacaridoses/complicações , Mucopolissacaridoses/patologiaRESUMO
One hundred-five patients (median age 14 months) in whom a PTFE prosthesis was used to create a systemic-pulmonary artery shunt were studied between 1978 and 1980. The prosthesis was mainly used to create a modified Blalock-Taussig anastomosis. Nine patients died in hospital (8.5%, 70% confidence limits: 5.7% to 12.3%). The clinical condition did not appear to be an incremental risk factor, while the young age and the underlying type of disease accounted for the hospital mortality to a large extent. All 96 survivals were available for follow-up information. One graft, which was damaged intraoperatively, occluded 3 months later. The remaining patients have a patent graft 3 months to 36 months (mean 24 months) postoperatively. In 6 patients the patency was assessed angiographically and no damages of the pulmonary artery were observed, therefore this type of palliation is advisable for any patient, particularly in the first year of life.
