RESUMO
Arterial switch operation (ASO) is considered the procedure of choice for transposition of great arteries (TGA). The results and long-term prognosis improved with recent advances in perioperative management. We herein analyze the clinical outcome of patients undergoing ASO at our institution during the past 3 years. From 2000 to 2002, 44 patients (30 male and 14 female) of TGA received ASO. Age at operation varied from 4 days to 6.6 years (median 14 days) with body weight ranged from 2.25 kg to 18.1 kg (median 3.3 kg). Palliative procedure prior to ASO was performed in 8 patients (18.8%). Normal coronary artery pattern was found in 28 patients (63.6%). The early mortality was 11% (5/44). Only associated ventricular septal defect (VSD) was a significant predictor for operative mortality (p=0.012). With a follow-up ranged from 11 to 44 months, the gradient of neo-pulmonary artery stenosis was 16.5 +/- 18.2 mmHg. Four patients (10%) received balloon dilatation and the other three (7.7%) underwent reoperation. The gradient of neo-aortic stenosis was 16.5 +/- 18.2 mmHg that needed to be dilated in three patients (7.7%). The probability free from reintervention was 73% at the 3rd postoperative year. One patient had moderate degree of pulmonary valve regurgitation and six had moderate neo-aortic valve regurgitation. In conclusion, the ASO can be performed in infants with satisfactory results, even in those with a body weight less than 2.5 kg. Only associated VSD was shown to be a risk factor.
Assuntos
Procedimentos Cirúrgicos Cardiovasculares/métodos , Comunicação Interventricular/cirurgia , Transposição dos Grandes Vasos/cirurgia , Cateterismo/métodos , Criança , Pré-Escolar , Feminino , Seguimentos , Comunicação Interventricular/mortalidade , Humanos , Lactente , Recém-Nascido , Masculino , Análise de Sobrevida , Taxa de Sobrevida , Taiwan , Transposição dos Grandes Vasos/mortalidade , Resultado do TratamentoRESUMO
Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent treatment for neonatal-type nonketotic hyperglycinemia in our hospital is presented. All patients were treated with a standardized protocol. Medical histories were retrieved from case notes. All six patients had elevated cerebrospinal fluid plasma glycine levels initially. All but one had received sodium benzoate and dextromethorphan from 1 month of age. All suffered from intractable seizures and severe mental retardation, and only two patients remain alive. One patient died at 5 days of age. No resuscitation was attempted in accordance with the family's wish after genetic counseling. The prognosis of neonatal nonketotic hyperglycinemia remains poor with current treatment. Genetic counseling helps parents cope with this devastating genetic disease.
Assuntos
Dextrometorfano/administração & dosagem , Antagonistas de Aminoácidos Excitatórios/administração & dosagem , Hiperglicinemia não Cetótica/tratamento farmacológico , Benzoato de Sódio/administração & dosagem , Encéfalo/patologia , Pré-Escolar , Aberrações Cromossômicas , Diazepam/administração & dosagem , Progressão da Doença , Doenças em Gêmeos , Relação Dose-Resposta a Droga , Esquema de Medicação , Quimioterapia Combinada , Feminino , Seguimentos , Genes Recessivos/genética , Aconselhamento Genético , Glicina/líquido cefalorraquidiano , Humanos , Hiperglicinemia não Cetótica/diagnóstico , Hiperglicinemia não Cetótica/genética , Hiperglicinemia não Cetótica/mortalidade , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Tono Muscular/efeitos dos fármacos , Exame Neurológico/efeitos dos fármacos , Respiração Artificial , Taxa de Sobrevida , TaiwanRESUMO
BACKGROUND AND PURPOSE: Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder. It is an X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have not been assessed in Taiwanese. This study analyzed the phenotype and genotype of OTC deficiency in Taiwanese. METHODS: During the period from January 1993 to December 2001 inclusive, 8 patients had the diagnosis of OTC deficiency by the criteria of hyperammonemia, hypocitrullinemia, and orotic aciduria. All 10 exons of the OTC gene were analyzed for mutations. RESULTS: Among the 8 cases, 3 belonged to the early-onset group (initial symptoms before or equal to age 28 days) and 5 belonged to the late-onset group (median onset age, 18 months; range, 8 months to 52 years). One case in the former group, and 4 cases in the latter group survived (mean survival, 8.2 years; range, 3 to 16 years). The average time between initial symptoms and diagnosis was 60 months in the late-onset group. Analysis of the OTC genes detected 5 different mutations in 5 patients, including 3 novel mutations: 42delT, 652G>A, and 791C>A. IQ tests, conducted in 3 patients, revealed low scores (mean, 53; range, 40 to 72). CONCLUSIONS: Both early-onset and late-onset cases of OTC deficiency were identified in Taiwanese. The diagnosis was delayed in these patients, and their outcomes were poor. All mutations detected were different and most of them have not been reported in other populations, which may explain the variability of phenotypes in Taiwanese patients.
