RESUMO
<p><b>BACKGROUND</b>Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China. Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives.</p><p><b>METHODS</b>After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR) gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA.</p><p><b>RESULTS</b>Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G > A substitution at the third nucleotide of codon 165. The other, IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G > A. The cDNA sequencing showed that the IVS5-1G > A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA, between exon 5 and exon 6.</p><p><b>CONCLUSIONS</b>The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.</p>
Assuntos
Adulto , Criança , Feminino , Humanos , Masculino , DNA Complementar , Hiperlipoproteinemia Tipo II , Genética , Mutação , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Receptores de LDL , GenéticaRESUMO
OBJECTIVE@#To analyze the multiple factors affecting the postoperative mechanical ventilation supporting time in infants less than 10 kg with simple congenital heart diseases and to seize time by the forelock of extube and improve the outcome of surgical treatment.@*METHODS@#Data of 231 infants less than 10 kg with atrial septal defect(ASD),ventricular septal defect, and combining patent ductus arteriosus were retrospectively analyzed. The multivaricate stepwise logistic regression statistics were done for the predisposing factors affecting the ventilative supporting time.@*RESULTS@#The ventilative supporting time was 3~375 (average 23.5 h) h. The multivaricate stepwise logistic regression analysis indicated that severe pulmonary hyperpressure, cross-cramp aortic time, cardiopulmonary bypass time, preoperational pulmonary infection, membrane oxygenator, modified ultrafiltration, weight, and postoperative complications were significantly correlated to the ventilative supporting time.@*CONCLUSION@#Severe pulmonary hyperpressure, preoperational pulmonary infection, long cross-cramp aortic time, long cardiopulmonary bypass time, postoperative complications all prolong the ventilation supporting time; the use of membrane oxygenator and modified ultrafiltration during the operation and big weight can diminish the pulmonary complications and shorten the ventilation supporting time.
Assuntos
Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Ponte Cardiopulmonar , Permeabilidade do Canal Arterial , Cirurgia Geral , Cardiopatias Congênitas , Cirurgia Geral , Comunicação Interatrial , Cirurgia Geral , Comunicação Interventricular , Cirurgia Geral , Modelos Logísticos , Análise Multivariada , Período Pós-Operatório , Respiração Artificial , Estudos Retrospectivos , Fatores de TempoRESUMO
OBJECTIVE@#To summarize the experience of surgical treatments of partial atrioventricular septal defect in 60 patients.@*METHODS@#From April 1999 to April 2004, 60 patients of partial atrioventricular septal defect were operated. Fifty-eight patients were performed with suture of the cleft of mitral valve and the other 2 were given mitral valve replacement; For closure of primum ASD, 53 patients with pericardial patches and 7 with Dacron patches. Coronary sinus was baffled to left atrium with kirklin procedure in 35 cases and baffled to right atrium with McGoon procedure in other 25 cases. Correct the accompanying cardiac deformity at the same time.@*RESULTS@#The hospital mortality was 3.3% (2/60) due to low cardic output syndrome. The incidence rate of complete atrioventricular block was 8.00% (2/ 35) in the group with Kirklin procedure and 6.06% (2/25) in the group with McGoon procedure. There was no statistical significance between the 2 groups (P > 0.05). The follow-up was from 1 month to 5 years, and there was no late death. All cardiac function were improved except middle mitral regurgitation in 1 patient.@*CONCLUSION@#Reasonable operative design, refined procedures, avoiding damage to conducting bundles and proper perioperative management are the key points in improving theraeutic effect.
Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Cardíacos , Métodos , Seguimentos , Comunicação Interatrial , Cirurgia Geral , Estudos RetrospectivosRESUMO
OBJECTIVE@#To summarize the experience of diagnosis and surgical treatment of ventricular septal defect with patent ductus arteriosus.@*METHODS@#We retrospectively analyzed the clinical data of 102 cases of ventricular septal defect combined with patent ductus arteriosus who underwent surgical treatment. Preoperative ultrasonic cardiogram (UCG) showed ventricular septal defect combined with patent ductus arteriosus in 82 cases and ventricular septal defect in 20 cases.@*RESULTS@#The hospital mortality was 4.9% (5/102). The reasons for death included low cardiac output syndrome (1 case), pulmonary hypertension crisis (2 cases) and respiratory failure (2 cases). In the remaining patients,the perioperative complications included lung infection (7 cases), pulmonary atelectasis (5 cases), hydrothorax (1 case), and pulmonary hypertension crisis (2 cases); and all the 15 patients recovered lastly. The pulmonary hypertension of all living patients decreased to some degree. The therapeutical effectiveness was satisfactory.@*CONCLUSION@#Ventricular septal defect with patent ductus arteriosus is easy to be confused with ventricular septal defect clinically. At the same time,it is diffcult to form a correct diagnosis in some patients by UCG preoperatively. To prevent the occurrence of perfusive lung, it is important to reinforce preoperative diagnosis and exploration during operation. Because pulmonary hypertension in patients with ventricular septal defect with patent ductus arteriosus emerges early and develops quickly, it tends to result in organic pulmonary hypertension which can make patients lose operation chances and influence the long-term therapeutical effect. Surgical operation should be performed as soon as possible. Optimal operative timing and proper perioperative management play important roles in surgical results.