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At least 271 records · Page 15Linked to original sources
PubMed1992

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.

We report on an infant girl with congenital erythematous, linear skin lesions on face and neck, bilateral microphthalmia, sclerocornea, cataracts, and a complex cardiac anomaly including atrial septal and ventricular septal defects. This patient had an Xp22.3 microdeletion and a chromosome satellite on the abnormal X p-arm. The abnormal X chromosome was late replicating in peripheral blood lymphocytes and cultured skin fibroblasts. Four other patients with similar congenital anomalies and Xp deficiency have been reported previously and are compared with this patient. One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable satellite in one patient each). Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. Our patient is the first with this syndrome to have a congenital heart defect.

Abnormalities, Multiple↗
PubMed2004

Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects.

BACKGROUND: Neural tube defects (NTDs) are congenital malformations arising mostly from incomplete neural tube closure during early embryogenesis. Most NTDs in humans have a complex etiology, with involvement of both genetic and environmental factors. More than 100 mouse models for human neural tube defects exist; Bent tail is one of them. The mouse mutant is caused by a submicroscopic deletion on Xq that completely encompasses the Zic3 gene. METHODS: We searched the ENSEMBL database for other genes/transcribed sequences in the Bent tail deletion in addition to Zic3, which we confirmed by PCR analysis. RESULTS: In our study, we show that the Bent tail deletion is at least 300 kb in size, encompassing a processed pseudogene and a number of expressed sequence tags in addition to Zic3. Although more research is needed to clarify the identity and function of the deleted transcripts, most of them are expressed during embryonic development and might therefore contribute to the phenotype of the Bent tail mouse. CONCLUSIONS: This study presents the first evidence for the fact that the Bent tail allele is not merely a Zic3 knockout allele, as has been previously suggested.

Animals↗
PubMed2007

Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.

BACKGROUND: The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight "multifactorial" strains. METHODS: The emerging patterns of mouse NTDs are considered in relation to the unknown genetics of the common human NTDs, anencephaly, and spina bifida aperta. RESULTS: Of the 150 mouse mutants that survive past midgestation, 20% have risk of either exencephaly and spina bifida aperta or both, parallel to the majority of human NTDs, whereas 70% have only exencephaly, 5% have only spina bifida, and 5% have craniorachischisis. The primary defect in most mouse NTDs is failure of neural fold elevation. Most null mutations (>90%) produce syndromes of multiple affected structures with high penetrance in homozygotes, whereas the "multifactorial" strains and several null-mutant heterozygotes and mutants with partial gene function (hypomorphs) have low-penetrance nonsyndromic NTDs, like the majority of human NTDs. The normal functions of the mutated genes are diverse, with clusters in pathways of actin function, apoptosis, and chromatin methylation and structure. The female excess observed in human anencephaly is found in all mouse exencephaly mutants for which gender has been studied. Maternal agents, including folate, methionine, inositol, or alternative commercial diets, have specific preventative effects in eight mutants and strains. CONCLUSIONS: If the human homologs of the mouse NTD mutants contribute to risk of common human NTDs, it seems likely to be in multifactorial combinations of hypomorphs and low-penetrance heterozygotes, as exemplified by mouse digenic mutants and the oligogenic SELH/Bc strain.

Actins↗
PubMed2001

Combined percutaneous pulmonary valvuloplasty and atrial septal defect closure for pulmonary valvular stenosis and associated secundum atrial septal defect in an adult.

Percutaneous balloon valvuloplasty is the treatment of choice for congenital pulmonary valve stenosis, and percutaneous closure of secundum atrial septal defects has become a promising alternative to surgery in selected patients. We report a case of combined percutaneous pulmonary valvuloplasty and secundum atrial septal defect occlusion in an adult patient.

Adult↗
PubMed1995

Generation of a defective RNA of avian coronavirus infectious bronchitis virus (IBV). Defective RNA of coronavirus IBV.

The Beaudette strain of IBV was passaged 16 times in chick kidney (CK) cells. Total cellular RNA was analyzed by Northern hybridization and was probed with 32P-labeled cDNA probes corresponding to the first 2 kb of the 5' end of the genome, but excluding the leader, and to the last 1.8 kb of the 3' end of the genome. A new, defective IBV RNA species (CD-91) was detected at passage six. The defective RNA, present in total cell extract RNA and in oligo-(dT)30-selected RNA from passage 15, was amplified by the reverse transcription-polymerase chain reaction (RT-PCR) to give four fragments. The oligonucleotides used were selected such that CD-91 RNA, but not the genomic RNA, would be amplified. Cloning and sequencing of the PCR products showed that CD-91 comprises 9.1 kb and has three regions of the genome. It contains 1133 nucleotides from the 5' end of the genome, 6322 from gene 1b corresponding to position 12423 to 18744 in the IBV genome and 1626 from the 3' end of the genome. At position 749 one nucleotide, an adenine residue, was absent from CD-91 RNA. By Northern hybridization CD-91 RNA was detected in virions in higher amounts than the subgenomic mRNAs.

Animals↗
PubMed2006

Retrograde approach for device closure of muscular ventricular septal defects in children and adolescents, using the Amplatzer muscular ventricular septal defect occluder.

This study presents technique and initial experience of retrograde deployment of the Amplatzer muscular ventricular septal defect occluder (AmVSDo) for closure of muscular ventricular septal defects (VSDs). The conventional technique for closing muscular VSDs involves the creation of an arteriovenous guidewire circuit and use of a transvenous approach for device deployment. Seven patients aged 2.2-15 years underwent transcatheter closure of a muscular VSD using the retrograde approach without making the arteriovenous wire circuit. Mean fluoroscopy and procedural times were compared to those previously reported in publications describing the use of the antegrade approach. Unpaired Student's t-test was used to compare the two parameters in two groups. Our technique was successful in all patients reported. The mean fluoroscopy time in the retrograde versus the antegrade group was 33.8 +/- 20.9 and 41.9 +/- 6.2 minutes, respectively (not significant), and the mean procedural time in the two groups was 91.1 +/- 22.1 and 114 +/- 33.9 minutes respectively (p = 0.025). No complications were noted. We suggest that some muscular VSDs can be safely closed retrogradely without the use of an arteriovenous loop, thus reducing the radiation exposure and also the cost of the procedure. Further studies are needed to confirm this initial experience.

Adolescent↗
PubMed1988

Defective-interfering particles of murine coronavirus: mechanism of synthesis of defective viral RNAs.

The mechanism of synthesis of the defective viral RNAs in cells infected with defective-interfering (DI) particles of mouse hepatitis virus was studied. Two DI-specific RNA species, DIssA of genomic size and DIssE of subgenomic size, were detected in DI-infected cells. Purified DI particles, however, were found to contain predominantly DIssA and only a trace amount of DIssE RNA. Despite its negligible amount, the DIssE RNA in virions appears to serve as the template for the synthesis of DIssE RNA in infected cells. This conclusion was supported by two studies. First, the uv target size for DIssE RNA synthesis is significantly smaller than that for DIssA. Second, when purified DIssE RNA was transfected into cells which had been infected with a helper virus, DIssE RNA could replicate itself and became a predominant RNA species in the infected cells. Thus, DIssE RNA was not synthesized from the genomic RNA of DI particles. By studying the relationship between virus dilution and the amount of intracellular viral RNA synthesis, we have further shown that DIssE RNA synthesis requires a helper function, but it does not utilize the leader sequence of the helper virus. In contrast, DIssA synthesis appears to be helper-independent and can replicate itself. Thus DIssA codes for a functional RNA polymerase.

Animals↗
PubMed2005

Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome.

INTRODUCTION: PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) is a rare neurocutaneous syndrome with only 2 case reports published in the ophthalmic literature. This study was conducted to identify ocular and systemic manifestations of PHACES syndrome. METHODS: A retrospective chart review was performed on 8 children with a diagnosis of PHACES syndrome. Information recorded included age at first visit, length of follow-up, gender, race, vision, need for glasses, strabismus, amblyopia, ptosis, proptosis, anterior and posterior segment abnormalities, need for treatment of the hemangioma, type of treatment of the hemangioma, and systemic manifestations. RESULTS: Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2). All patients were treated with steroids for the hemangioma. Systemic manifestations of PHACES syndrome included posterior fossa malformation (n = 4), hemangioma (n = 8), arterial anomalies (n = 3), cardiac abnormalities (n = 3), and sternal or ventral deformities (n = 3). CONCLUSION: Children with PHACES syndrome may have significant ocular and systemic abnormalities and are at increased risk for strabismus and amblyopia. They often require steroid therapy of the hemangioma to prevent and/or treat ocular complications. These patients require careful monitoring by a pediatric ophthalmologist in addition to other subspecialists.

Abnormalities, Multiple↗
PubMed1983

Transposition of the great arteries and ventricular septal defect: results with the Senning operation and closure of the ventricular septal defect in infants.

From May, 1978, to July, 1982, 46 infants ranging in age from 12 days to 12 months and in weight from 2.1 to 8.4 kg underwent repair of dextrotransposition of the great arteries (D-TGA) and ventricular septal defect (VSD) using a Senning repair and closure of the VSD. Ventricular septal defects were classified as membranous (47.8%), malaligned (28.3%), atrioventricular (AV) canal type (13.0%), subarterial (2.2%), muscular (2.2%), and multiple (6.5%). Hospital mortality was 15.2% and late mortality, 5.1%. Postoperative complications included tricuspid regurgitation (mild in 3 and severe, requiring tricuspid valve replacement, in 3), residual VSD (pulmonary/systemic flow ratio of greater than 2:1) in 3 patients (2, AV canal type and 1, multiple VSDs), pulmonary venous obstruction in 3 patients, and permanent complete heart block in 4 patients (2, AV canal type of VSD also requiring tricuspid valve replacement). Lung biopsy studies showed reversible Heath-Edwards and morphometric changes. No patient was seen with Heath-Edwards III or greater changes. In 10 patients, right ventricular end-diastolic pressures and pulmonary artery pressures at rest were within normal limits one year after operation. As the operative mortality of atrial inversion and arterial switch operations for D-TGA with VSD tends to become comparable, more extensive follow-up data, including cardiac catheterization and coronary arteriography in a large number of patients, will be necessary to establish the superiority of one approach over the other.

Abnormalities, Multiple↗
PubMed1997

Atrial septal defect in adults: cardiopulmonary exercise capacity before and 4 months and 10 years after defect closure.

OBJECTIVES: The purpose of the study was to evaluate the cardiopulmonary exercise capacity and ventilatory function in adults with atrial septal defect (ASD) preoperatively and 4 months and 10 years postoperatively. BACKGROUND: Only few data are available on cardiopulmonary exercise tolerance after ASD closure, but detailed knowledge might be helpful for indication for defect closure in certain patients. METHODS: The study was performed in adult patients (mean [+/-SD] age at operation 39.9 +/- 11.5 years; left-right shunt 9.6 +/- 5.6 liters/min; pulmonary/systemic flow ratio 2.8 +/- 1.2; mean pulmonary artery pressure 18.2 +/- 6.2 mm Hg). Cardiopulmonary exercise testing was performed with a bicycle ergometer. We determined peak oxygen uptake, anaerobic threshold, performance at anaerobic threshold and maximal performance in relation to these variables in a normal group. Ventilatory function at rest was expressed by vital capacity, maximal voluntary ventilation and forced expiratory volume in 1 s. RESULTS: Preoperatively, ventilatory function at rest was only moderately reduced to approximately 75% to 85%. Four months postoperatively we found no significant improvement, but 10 years postoperatively ventilatory function at rest was normalized. Preoperative cardiopulmonary exercise capacity was markedly reduced to 50% to 60%; early postoperatively it was only slightly higher, but late postoperatively exercise capacity significantly improved and was completely normalized. CONCLUSIONS: Although preoperative cardiopulmonary capacity in adult patients with nonrestrictive ASD was significantly decreased, some improvement was seen at 4 months postoperatively, with complete restitution to normal at 10 years after shunt closure.

Adult↗
PubMed2002

Cardiopulmonary exercise parameters in children with atrial septal defect and increased pulmonary blood flow: short-term effects of defect closure.

UNLABELLED: Markedly increased pulmonary blood flow because of a relevant atrial septal defect (ASD) leads to impaired cardiopulmonary function during maximum exercise in adults. No comparative preoperative and postoperative data are available on the short-term effects of shunt closure on cardiorespiratory function at peak exercise in children. Pulmonary function testing at rest and cardiopulmonary exercise testing together with haemodynamic assessment was done prospectively in children with an ASD preoperatively and again after full recovery at 3-4 mo postoperatively and compared with a matched normal population. Sixteen children, aged 6.8-16.1 y, with a defect of 8-23 mm (median 15 mm) and a pulmonary/systemic flow ratio of 1.5-3.5 (median 2.2) were tested and compared with 15 healthy children. Preoperatively, baseline pulmonary function parameters and exercise capacity were no different from normals. At peak exercise, patients with a shunt had increased pulmonary resistance, especially of the distal airways (p = 0.04), with a significantly larger proportion of children having a paradoxical increase in total airway resistance during exercise (p < 0.05). Maximum serum lactate at peak exercise was elevated (p < 0.05) in patients. In patients, maximum oxygen uptake was impaired (p = 0.03) and remained so at repeat evaluation postoperatively. The same observation was made for chronotropic response to exercise. CONCLUSION: Cardiopulmonary exercise parameters in patients with ASD differed only slightly from those in normal children. The most important deviations were a lower maximum oxygen uptake and an increase in airway resistance at maximum exercise.

Adolescent↗
PubMed1999

Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.

This study presents race/ethnicity-specific prevalence estimates of neural tube defects (NTDs) in California using 5 years of population-based data. NTD prevalence estimates include prenatally diagnosed cases, as well as cases diagnosed at birth. The California NTD Registry contains NTD case reports identified through the California Maternal Serum Alpha-Feto Protein (AFP) Screening Program, the California Birth Defects Monitoring Program, and additional reports from clinicians and clinics throughout the state. These data were used to estimate NTD prevalence in a large population-based study (n = 1,618,279). The overall NTD prevalence among White, Black, Hispanic, and Asian women are reported, as well as race/ethnic prevalence, for anencephaly, spina bifida, and encephalocele. Rates are expressed as the number of cases per 1,000 women screened between 1990 and 1994. Among 1,457 women with an NTD-affected pregnancy, the overall rate for anencephaly, spina bifida, and encephalocele was 0.49 (95% CI 0.46-0.53), 0.42 (95% CI 0.38-0.45), and 0.08 (95% CI 0.07-0.09), respectively. When these types of NTDs are combined, Hispanic women had the highest overall rate (1.12, 95% CI 1.04-1.21), followed by Whites (0.96, 95% CI 0.89-1.04), Blacks (0.75, 95% CI 0.59-0.91), and Asians (0.75, 95% CI 0.60-0.90). Hispanic women were 45% more likely than White women to have a pregnancy affected with anencephaly (odds ratio = 1.45, 95% CI 1.24-1.70), while Asian women were over two times less likely to have a pregnancy affected with spina bifida (odds ratio = 0.44, 95% CI 0.29-0.65). Considerable variation exists in the prevalence of NTDs by race/ethnicity and by type of NTD, with Hispanic women exhibiting the highest overall NTD rate.

Anencephaly↗
PubMed1994

In murine AIDS, B cells are early targets of defective virus and are required for efficient infection and expression of defective virus in T cells and macrophages.

Previous studies showed that B cells and CD4+ T cells are required for induction of a murine retrovirus-induced immunodeficiency syndrome, murine AIDS. Using B6 mice deficient in mature B cells as a result of a knockout of the transmembrane exon of the immunoglobulin M gene, we found that spleen and other tissues from murine AIDS virus-infected mice did not express the defective virus (BM5def) required for induction of disease, even though helper viruses were readily detectable and BM5def proviral DNA was present. This indicates that the B-lineage cells are the primary targets for infection and expression of the defective virus and that in the absence of mature B cells, there is inefficient infection of T cells and macrophages.

Actins↗
PubMed2004

Severity indices of right coronary cusp prolapse and aortic regurgitation complicating ventricular septal defect in the outlet septum: which defect should be closed?

BACKGROUND: The factors that may determine the evolution of right coronary cusp prolapse (RCCP) and regurgitation (AR) associated with a ventricular septal defect in the outlet septum (outlet VSD) have not been clarified. METHODS AND RESULTS: The Doppler echocardiograms of 316 patients were grouped according to both the development of RCCP, and the values of the right coronary cusp deformity index (RCCD) and the right coronary cusp imbalance index (R/L). All detected AR was </= slight, and not progressive in patients with both RCCD <0.30 and R/L <1.30. Moderate AR was detected in patients with either RCCD >/=0.30 or R/L >/=0.30. Rupture of the sinus of Valsalva was identified in patients with RCCD >/=0.30. A significantly large number of patients with both RCCD >/=0.30 and R/L >/=1.30 (p<0.01), and a few patients with either RCCD >/=0.30 or R/L >/=0.30 underwent aortic valvuloplasty or replacement. Operative outcome for AR </= slight was good. CONCLUSIONS: There is no need to close an outlet VSD with RCCP when the RCCD <0.30 and R/L <1.30 as long as the AR remains trivial, but such defects should be closed when the RCCD is >/=0.30 or R/L >/=1.30.

Adolescent↗
PubMed2004

Sequential therapy in a case of extrahepatic biliary atresia associated with ventricular septal defect: liver transplantation followed by surgical closure of the septal defect.

Patients with extrahepatic biliary atresia (EHBA), the commonest indication for liver transplantation in pediatric cases, may have associated congenital anomalies, e.g. interventricular septal defect (IVSD). Even if there is a well established therapeutical algorithm for a ventricular septal defect as an isolated disease, the surgical approach raises special problems in a liver transplanted patient. We present the case of a little girl with EHBA and IVSD. The patient underwent a living related liver transplantation when she was 1 year old. Persistence of the symptomatic IVSD required open heart surgery, performed 9 months posttransplantation. The decision to perform the closure of the IVSD was difficult, yet it proved to be beneficial; the child had an uneventful postoperative course, with remission of the symptoms and a good late outcome. To our knowledge, this is the first case of a living-related liver transplantation patient undergoing open heart surgery for IVSD closure.

Biliary Atresia↗
PubMed2004

[The morphologic changes of Amplatzer asymmetric ventricular septal defect occluder after transcatheter closure of perimembrane ventricular septal defect].

OBJECTIVE: Catheter closure of perimembrane ventricular septal defect (PMVSD) using the Amplatzer asymmetric ventricular septal defect occluder (AAVSDO) is a potential alternative for open surgical repair. However, the profile of the device obtained after closure probably continues to change some concerns regarding its safety. This study was designed to evaluate the morphologic changes of AAVSDO by transthoracic echocardiography examination (TTE) and X-ray examination after transcatheter closure of PMVSD. METHODS: A total of 23 patients, aged 2.5 - 47.0 years, with PMVSDs underwent transcatheter closure with the AAVSDO. Each patient underwent TTE and X-ray examination with same radiography system immediately, 72 hours, 6 months and 1 year after the transcatheter closure procedures, respectively. Seven parameters were measured by TTE and X-ray to evaluate the morphologic changes of AAVSDO: the distance between superior edge of left disk of AAVSDO and aortic valve (L(1)), the distance between superior extremity edge of two disks of the occluder (L(2)), the distance between inferior extremity edge of two disks of the occluder (L(3)), the distance between two marks on the left and right disks (L(4)), the diameter of left disk (D(1)), the diameter of left disk (D(2)), and the degree of angle between left and right disks (alpha). In the meantime, the influences of occluder's morphologic changes were evaluated by TTE. RESULTS: The PMVSD diameter ranged from (8.53 +/- 4.82) mm (3.91 - 17.0 mm). The device diameter ranged from 6 - 18 (10.34 +/- 7.16) mm. AAVSDO was performed successfully in all the 23 patients who underwent immediately, 72 hours and 6 months follow-up after catheter closure, and 12 patients accomplished 1-year follow-up. L(2), L(4) and alpha were shorter at 6-months than 72-hours after procedures, but D(1) and D(2) were greater at 6-months than 72-hours after procedures in all patients. Alpha was decreased further 1 year after the procedure, but other parameters did not change significantly compared with those at 6-months after procedures. The lower profile and smaller thickness of AAVSDO were observed in the follow-up. Meanwhile, D(1) and D(2) changed significantly during the follow-up. L(4) had a weak positive correlation with device size (r = 0.47, 0.33 and 0.39, respectively) and with alpha (r = 0.47, 0.53 and 0.49, respectively), and had weak negative correlation with D1 (r = -0.27, -0.45 and -0.29, respectively). After deployment of the prosthesis there was no residual shunt in 20 of 23 patients (87%). There was a trivial residual shunt that disappeared at the six month follow up in two patients, and a small residual shunt that disappeared at the one year follow up in one patient. The morphologic changes of AAVSDO did not influence the structure near PMVSD. CONCLUSION: The morphologic changes of Amplatzer occluder were observed in the follow-up. The change of the occluder was safe and beneficial to improve short-term curative effect.

Adolescent↗
PubMed1990

[A proposal for a standardized protocol for echocardiographic examinations of valvular defects, valve prostheses and atrial septal defects].

The authors summarize in standard protocols the spectrum of possible examinations made by means of a modern echocardiographic apparatus in valvular defects and prostheses and in septal atrial defects. They discuss some evaluations and their practical importance. Standardization contributes towards a comprehensive and more illustrative character and facilitates comparison of findings. A structured concept of the protocol is selected with the perspective of its deposition in a data base of an interactive external computer. The work should serve as a stimulus for discussion in other echocardiographic departments and elaboration of their own working procedure.

Echocardiography, Doppler↗