Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “DEFECTIVES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMedDate not supplied

Transcatheter closure of secundum atrial septal defects, a ventricular septal defect, and a patent arterial duct.

We report our clinical experience with the newly developed Amplatzer device in transcatheter closure of nine atrial septal defects (ASDs), one ventricular septal defect (VSD), and one patent arterial duct (PDA). Eleven patients with ASD (age range 2.5-18 years) selected according to the location and size of the defect by transesophageal echocardiography (TEE), a five-year-old patient with muscular VSD and a one-year-old patient with PDA were considered for transcatheter closure with Amplatzer devices. All procedures were performed under general anesthesia with fluoroscopic and TEE guidance, following a routine hemodynamic evaluation in the catheter laboratory. The optimal device size was selected after the balloon sizing of the ASDs. The sizes of the VSD and PDA were measured on TEE and angiography. The patients were discharged at 24 hours, after an evaluation with x-ray, electrocardiogram (ECG), and echocardiography; they were on 3-5 mg/kg/day aspirin and infective endocarditis prophylaxis for six months after the procedure. They were reassessed at six to eight weeks and Holter monitoring was done in addition. Devices were used for nine ASD patients, and for the VSD and the PDA patients. Mean ASD size was 14.3 +/- 5.3 mm at TEE and 18.3 +/- 4.3 mm at balloon sizing (p=0.02). The mean size of the device was 18.7 +/- 4.2 mm. The procedure time and the fluoroscopy time were 46.1 +/- 12.3 and 12.9 +/- 1.6 minutes, respectively. Immediately after the procedure, four patients (44%) had trivial shunts (TS). TS remained in only two during discharge, and no shunt was observed at second evaluation. The devices were similarly applied to VSD (12-7 mm) and PDA (8-6 mm) patients. Both cases had TS immediately, which disappeared at 24 hours. None of the patients had major complications. Junctional rhythm developed in one patient, and another patient had frequent supraventricular extrasystoles. Amplatzer is an effective and safe device for transcatheter closure of ASD, VSD, or PDA, especially in pediatric patients.

Adolescent↗
PubMedDate not supplied

Congenital pericardial defect associated with atrial and ventricular septal defects.

Congenital pericardial defects are rare anomalies but in recent years improved diagnostic techniques have often led to a pre-operative diagnosis. The present communication describes a case of a partial pericardial defect with herniation of the lung into the pericardium associated with a lung cyst which is extremely rare. The sternum showed some deficiency in its lower portion. Atrial and ventricular septal defects with a small pericardio-peritoneal foramen were also present.

Cardiomegaly↗
PubMed1999

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.

We report on a twin pair presenting with atrioventricular canal defect (AVCD) with right ventricular dominance in one twin, and classic hypoplastic left heart syndrome (HLHS) in the other. According to the developmental-mechanistic approach, AVCDs belong to the group of extracellular matrix abnormalities, whereas classic HLHS is included among flow lesions. Twin pairs with congenital heart defect (CHD) generally have concordant defects by mechanistic group. The occurrence of AVCD and classic HLHS in twins or siblings has never been reported. Interestingly, hypoplasia of the left ventricle is the anatomic characteristic which unifies the discordant CHDs observed in our twins. The occurrence of CHD in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different cardiac phenotypes observed in our twins is unknown. The report of these peculiar associations may be useful to stimulate further studies and shed light on the etiology of CHDs.

Child, Preschool↗
PubMed2004

Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects.

BACKGROUND: In April of 2003, The Micronutrient Initiative, in collaboration with several other organizations, convened a group of knowledgeable scientists and policy experts to discuss ways to accelerate the global pace at which countries implement effective and sustainable programs to prevent folic acid-preventable birth defects and other folate-deficiency diseases. Programs implemented to date by fewer than 40 countries have prevented only 10% of the estimated 240,000 annual cases of folic acid-preventable spina bifida and anencephaly. METHODS: Participants in this meeting summarized and presented scientific evidence showing that increased consumption of synthetic folic acid prevents a large proportion of spina bifida and anencephaly cases. They also reviewed related guidance and endorsement issued by national professional societies and advisory bodies as well as policies and programs implemented by some countries that have already demonstrated successful results in terms of reduced rates of neural tube defects and improved folate nutrition. CONCLUSIONS: The group formulated and discussed recommendations and strategies for increasing the pace of neural tube defect prevention globally. The recommendations and strategies are published here.

Dietary Supplements↗
PubMed1990

Amniotic fluid acetylcholinesterase in the prenatal diagnosis of open neural tube defects and abdominal wall defects: a comparison of gel electrophoresis and a monoclonal antibody immunoassay.

Stored amniotic fluid samples collected in Oxford and East Birmingham as part of the Collaborative Acetylcholinesterase Study were assayed for the presence of acetylcholinesterase (AChE) using a monoclonal antibody (4F19) enzyme antigen immunoassay. These results were compared with the results of a gel AChE which had been performed earlier. A total of 5689 samples from singleton pregnancies were analysed (including 36 with anencephaly, 77 with open spina bifida and 17 with anterior abdominal wall defects). The gel test yielded detection rates of 97% for anencephaly, 99% for open spina bifida and 94% for abdominal wall defects; the false positive rate (excluding pregnancies associated with serious abnormalities, miscarriages and intrauterine deaths) was 0.24%. The monoclonal test yielded similar results; using appropriate cut-off values to allow for differences in acetylcholinesterase levels in blood stained and clear samples, a similar false-positive rate of 0.22% was associated with detection rates of 97%, 95% and 71% respectively for the three types of defect. Although the detection rates and the false positive rate were slightly higher for the gel test, a result that might be explained by a decrease in AChE activity caused by storage of the samples, the monoclonal test has the advantages of requiring less interpretative expertise, it can be performed on a larger number of samples a day and it is not affected by contamination with fetal calf serum.

Abdominal Muscles↗
PubMed1985

Maternal epilepsy and birth defects: a case-control study in the Italian Multicentric Registry of Birth Defects (IPIMC).

A case control study on the association between maternal epilepsy, anticonvulsants use during pregnancy and birth defects was carried out in the Italian Multicentric Registry of Birth Defects (IPIMC). In the period 1980-1983, 7,607 malformed babies out of 439,717 total births (still + live) were registered. Fourty-one malformed babies with maternal epilepsy were identified (5.39 X 1,000). The overall relative risk of having a malformed baby among pregnant epileptic women was 1.87. Spina Bifida, Congenital Heart Defects, Clefts, Diaphragmatic Hernia and Trisomy 18 were more frequent than expected among babies with maternal epilepsy. The different therapeutic regimens were also tested to identify the possible independent teratogenic effect of anticonvulsants. A statistically significant association between Spina Bifida and Valproic Acid (odds ratio 22.7; Fisher p value = 0.0364) was observed: no other anticonvulsant tested showed any association with any type of malformation.

Abnormalities, Drug-Induced↗
PubMed1988

A poliovirus mutant defective for self-cleavage at the COOH-terminus of the 3C protease exhibits secondary processing defects.

By in vitro recombination between the wild-type full-length infectious cDNA of poliovirus and a clone generated by the construction of a cDNA bank from a chemically derived temperature-sensitive plurimutant, we obtained a mutant cDNA with a T to C change at nucleotide 5658. This mutation replaces the isoleucine at residue 74 of the viral protease 3C by a threonine. The mutant virus recovered after transfection exhibited a small-plaque phenotype, and was deficient for viral RNA synthesis. Both these defects were more marked at 39 than at 37 degrees. The mutation was introduced into a bacterial plasmid which expresses the 3C protease along with its flanking autocatalytic cleavage sites. Analysis of the cleavage products expressed in Escherichia coli provided direct evidence that the modification impaired cleavage at the COOH-terminus of 3C. Cleavage at this same site was partially defective in mutant virus-infected HeLa cells, reducing the production of mature 3C and the viral replicase, 3D. Cleavage of P1, the precursor to the capsid polypeptides, was apparently unaffected by this defect, whereas cleavage events within the P2 region of the genome occurred inefficiently. This is indicative of differential strategies for 3C-specific cleavage events in vivo.

DNA↗
PubMed2005

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China.

PURPOSE: This study was designed to investigate whether the risks of congenital heart defects (CHD) and orofacial defects were influenced by a polymorphism of the offspring's RFC1 or by an interaction between the RFC1 gene and maternal periconceptional use of folic acid. METHODS: A case-control study was conducted. A total of 82 families with a child affected by cleft lip with or without cleft palate (CLP), 67 families with a child-affected by CHD, and 100 nonmalformed control families were genotyped using PCR-RFLP. RFC1 G allele was tested through family-based association test. RESULTS: Among mothers who did not use folic acid, the risks of 4.03 (95% CI = 1.33-12.77) for the G80/G80 genotype and 4.14 (95% CI = 1.06-16.82) for the G80/A80 genotype were observed relative to the A80/A80 genotype for CHD offspring. In family-based association tests (FBAT), offspring carrying the G allele for RFC1 is at increased risk for CHD (Z = 2.140, p < .05). No significant association was found between either RFC1 genotype or maternal folic acid supplementation and the risks of CLP. CONCLUSIONS: Our findings suggest that the RFC1 G allele is likely to be an important candidate gene in folate transport and to be associated with risk for CHD. This study found modest evidence for a gene-nutrient interaction between offspring RFC1 genotype and periconceptional intake of folic acid on the risk of congenital heart defects.

Case-Control Studies↗
PubMed1999

Transcatheter closure of muscular ventricular septal defects with the amplatzer ventricular septal defect occluder: initial clinical applications in children.

OBJECTIVES: The aim of this study was to close muscular ventricular septal defects (MVSDs) in children, with a new device, the Amplatzer ventricular septal defect occluder (AVSDO). BACKGROUND: The design of previously used devices for transcatheter closure of MVSDs is not ideal for this purpose and their use has been limited by several drawbacks. METHODS: Six patients, aged 3 to 10 years, with MVSDs underwent transcatheter closure using the AVSDO. The device is a modified self-centering and repositionable Amplatzer device that consists of two low profile disks made of Nitinol wire mesh with a 7-mm connecting waist. The prosthesis size (connecting waist diameter) was chosen according to the measured balloon stretched VSD diameters. A 6-F or 7-F sheath was used for the delivery of the AVSDO. Fluoroscopy and transesophageal echocardiography were utilized for optimal guidance. RESULTS: The location of the defect was midmuscular in five patients and beneath the pulmonary valve in one. The balloon stretched MVSD diameter ranged from 6 to 11 mm. Device placement was successful in all patients, and complete occlusion occurred in all six patients (95% confidence interval 54.06% to 100%). Two patients developed transient complete left bundle branch block. No other complications were observed. CONCLUSIONS: This encouraging initial clinical success indicates that the AVSDO is a promising device for transcatheter closure of MVSDs in children. Further clinical trials and longer follow-up are needed before the widespread use of this technique can be recommended.

Cardiac Catheterization↗
PubMed2002

A systematic review of guided tissue regeneration for periodontal furcation defects. What is the effect of guided tissue regeneration compared with surgical debridement in the treatment of furcation defects?

OBJECTIVES: To systematically review the evidence of effectiveness of guided tissue regeneration (GTR) for furcation defects. BACKGROUND: The evidence for the effectiveness of GTR in furcation defects has not yet been systematically appraised. METHODS: We searched for randomized controlled trials with at least 6 months' follow-up comparing GTR with surgical debridement (open flap debridement, OFD). Data sources included electronic databases, hand-searched journals and contact with experts. Screening, data abstraction and quality assessment were conducted independently by multiple reviewers. The primary outcome measure was reduction in open horizontal furcation depth, secondary outcomes were frequency of furcation closure, gain in horizontal and vertical probing attachment and reduction of vertical probing depth. RESULTS: For the primary outcome, reduction in horizontal furcation depth assessed during re-entry, the weighted mean difference between GTR and control was 1.51 mm (95% CI [0.39-2.62], chi-square for heterogeneity 67.6 (df = 3), P < 0.001) in mandibular class II furcations, 1.05 mm (95% CI [0.46-1.64, chi-square for heterogeneity 34.9 (df = 3), P < 0.001) in maxillary class II furcations, and 0.87 mm (95% CI [-0.08-1.82], chi-square for heterogeneity 0.1 (df = 4), P = 0.991) in studies that had combined mandibular and maxillary class II furcations. For the secondary outcomes, GTR treatment led to significantly better results than open flap debridement. No meta-analysis could be performed for frequency of furcation closure because of sparse data. CONCLUSIONS: Overall, GTR was consistently more effective than OFD in reducing open horizontal furcation depths, horizontal and vertical attachment levels and pocket depths for mandibular or maxillary class II furcation defects. However, these improvements were modest, variable and there was only a limited number of studies available to appraise the effects, thus limiting general conclusions about the clinical benefit of GTR. Future studies should aim to identify factors associated with achieving consistent and more pronounced benefits over open flap debridement.

Furcation Defects↗
PubMed2003

Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry.

OBJECTIVE: Our aim was to examine the temporal variability in congenital heart defect (CHD) birth prevalence from 1980 to 2000 in Emilia-Romagna, Italy. METHODS: The study population consisted of all infants, surveyed by the Emilia-Romagna birth defects registry (Indagine Malformazioni conpenite in Emilia-Romagna [IMER]), who were affected by CHDs. A simplified classification into "simple" and "complex " CHD was adopted. A comparison with another epidemiologic study using different methodology in the same area was performed. RESULTS: From 1980 to 2000, IMER ascertained 2442 live births with CHD of 480,793 infants born, with an average CHD birth prevalence of 5.1% (Range, 3.1% to 7.5%). A significant increase in prevalence of simple CHD during the second decade of the study was demonstrated because of an increased recognition of "minor" cardiac lesions among the simple CHD. The birth prevalence of complex CHD remained stable. CONCLUSIONS: The apparent increase in live births with CHD results mainly from the current widespread availability of color Doppler echocardiography, which allows the early detection of the "minor" cardiac defects. Other differences are the result of the sources of ascertainment, diagnostic criteria, system of classification, and especially the age limit for enrolling infants with suspected CHD.

Female↗
PubMed1990

Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program.

Data from the Chinese Birth Defects Monitoring Program (CBDMP) over the period of October 1986 to September 1987 were analysed to study the descriptive epidemiology of congenital malformations of the central nervous system (CNS), especially neural tube defects (NTDs) in China. A total of 4628 CNS congenital malformations were recorded within seven days of delivery among 1,243,284 live and stillbirths of 28 or more weeks gestation in 945 hospitals from all 29 provinces, metropolitan cities and autonomous regions of China. Neural tube defects account for 73.55% of these cases, hydrocephaly for 24.63% and microcephaly for 1.82%. The prevalence rates at birth of NTDs and congenital malformations of the CNS in China were 27.37 and 37.22 per 10,000 respectively. More NTDs were observed in females (35.68 per 10,000 female births) as compared to males (19.23 per 10,000 male births). The prevalence of NTDs in rural areas (51.69 per 10,000 births) was higher than that in urban areas (15.45 per 10,000 births).

Central Nervous System↗
PubMed1988

Con A non-reactive fractions of human amniotic fluid alpha-fetoprotein in prenatal diagnosis of fetal neural tube defects and fetal abdominal wall defects. Predictive values, sensitivity, and specificity, and comparison to acetylcholinesterase and ultrasound scanning.

During a 6-year period 19,647 consecutively received amniotic fluid samples were analyzed for the alpha-fetoprotein (AFP) concentration. In samples with an AFP concentration above the 95% upper normal limit the fraction of AFP non-reactive with concanavalin A (con A) was determined by crossed affinity immunoelectrophoresis. Of 436 samples from normal pregnancies with a moderate elevation of AFP (between the 95% limit and 2.5 times the median) the con A fraction was normal in 92 to 98% of the cases, depending on the gestational age. At significantly elevated AFP concentrations (above 2.5 times the median), the fractions were normal in 78% of the 50 cases with a normal outcome. In 80 of 89 cases of fetal malformations, abnormally low fractions were found, and in all 19 cases of abdominal wall defects and congenital nephrosis the fractions were low. No significant difference was found in the sensitivity for detection of fetal malformations by con A analysis compared to quantitative analysis for acetylcholinesterase (AChE). However, significantly more false positive results were found in normal pregnancies for the con A analysis compared to the AChE analysis. Both analyses performed significantly better than ultrasound scanning in terms of sensitivity. It is concluded that AChE is the test of choice in prenatal diagnosis of fetal neural tube defects. However, a sensitivity of 1.00 and a predictive value of a negative test of 1.00 were found for the con A analysis for fetal abdominal wall defects. The AchE analysis performed less well in this context.

Abdominal Muscles↗
PubMed2006

Primary prevention of neural tube defects with folate in Western Australia: the value of the Western Australian Birth Defects Registry.

This paper reviews the role of the Western Australian Birth Defects Registry in the primary prevention of neural tube defects. The Registry provides complete and up-to-date information on all neural tube defects (NTD), including terminations of pregnancy. These data have been used to determine a baseline rate of NTD and to monitor trends in NTD over time, when health promotion of folic acid supplement use and voluntary fortification of food with folate were introduced. The register has also been used to investigate NTD in special populations (Indigenous infants in Australia) and as a sampling frame for case control studies. The data derived from these studies have been used to assist in assessing whether mandatory food fortification in Australia is indicated to prevent NTD.

Australia↗
PubMed2003

Transcatheter closure of perimembranous ventricular septal defects with the Amplatzer asymmetric ventricular septal defect occluder: preliminary experience in children.

OBJECTIVE: To close perimembranous ventricular septal defects (PMVSDs) in children with the new Amplatzer asymmetric ventricular septal defect occluder (AAVSDO). PATIENTS AND DESIGN: 10 children, aged 1.5-12 years, with PMVSDs underwent transcatheter closure with the AAVSDO. The device consists of two low profile disks made of Nitinol wire mesh with a 1.5 mm connecting waist. The left disk is 5 mm towards the apex and only 0.5 mm towards the aortic valve. The right disk is 4 mm larger than the waist. The prosthesis diameter was chosen to be 1-2 mm larger than the largest diameter of the defect (determined by transoesophageal echocardiography and angled angiocardiography). A 7-8 French gauge sheath was used to deliver the AAVSDO. RESULTS: The PMVSD diameter ranged from 2-8 mm. The device diameter ranged from 4-8 mm. After deployment of the prosthesis there was no residual shunt in 9 of 10 patients (90%). In one patient there was a trivial residual shunt that disappeared at the three month follow up. Three patients developed transient complete left bundle branch block. No other complications were observed. CONCLUSIONS: The AAVSDO appears to be a promising device for transcatheter closure of PMVSDs in children. Further studies are required to document its efficacy, safety, and long term results in a larger patient population.

Balloon Occlusion↗
PubMed2006

Use of the Amplatzer muscular ventricular septal defect occluder for closure of perimembranous ventricular septal defects.

BACKGROUND: Transcatheter closure of a perimembranous ventricular septal defect (PmVSD) is usually performed with an asymmetric Amplatzer occluder, which is not an ideal device. Experience with the use of the Amplatzer muscular ventricular septal defect occluder (MVSO) to close selected PmVSDs is presented. SETTING: Two tertiary referral centres for paediatric cardiology in two countries. OBJECTIVE: To look at the safety and efficacy of the application of the MVSO in patients with appropriate PmVSD anatomy. PATIENTS AND INTERVENTION: The procedure was performed in 10 patients aged 3.2-40 (mean 12.5) years. All had a PmVSD with a mean diameter of 5.4 (range 4-11) mm, with an extension towards the muscular septum. The mean distance of the defect from the aortic valve was 5.4 (range 4-6) mm. In all but one patient, the MVSO was introduced in routine antegrade transvenous fashion (4-mm device in one patient, 6-mm device in five, 8 mm in two, 10 mm in one, and 12 mm in one). In one patient, the device was deployed by retrograde implantation. RESULTS: All procedures except one were performed without complications, and complete closure of the VSD was achieved. One patient with a residual shunt developed haemolysis, which resolved over 10 days. In three patients, trivial, non-progressive tricuspid regurgitation appeared after the procedure. No other complications were observed over 1.7 (range 0.2-3.5) years of follow-up. CONCLUSION: Application of the MVSO for closure of selected PmVSDs seems to be a safe and effective treatment option.

Adolescent↗
PubMed1977

Functional status of patients with large ventricular septal defect and pulmonary vascular disease 6 to 16 years after surgical closure of their defect in childhood.

We have reviewed 27 patients now 6 to 16 years after closure of a ventricular septal defect at 3 to 12 years of age associated with pulmonary hypertension with a view to assessing their quality of life, respiratory function, and exercise performance. All the patients led normal unrestricted lives. Their subjective lack of symptoms was, in general, confirmed by the results obtained from assessment of lung function tests and two-stage exercise testing in 19 volunteers. Abnormal ventilation in relation to work load was noted in 5 patients and a slightly low exercise cardiac output in 6. Although the patients led normal lives and had a satisfactory response to exercise, measurement of pulmonary artery pressure showed striking pulmonary hypertension on effort. Despite the satisfactory progress of these patients their more long-term future must be one of conjecture and their residual pulmonary hypertension, indicative of residual pulmonary obstruction, must lend weight to arguments for earlier closure of ventricular septal defect before 1 to 2 years of age when changes in the pulmonary vascular bed may be reversed after closure of the defect.

Adolescent↗