1/778. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 1keywords = chromosome, ring (Clic here for more details about this article) |
2/778. Competitive pulmonary flow in infancy: the effect of respiration.Superior caval flow during positive pressure mechanical ventilation and spontaneous breathing was investigated by Doppler echocardiography in a neonate with a coexisting superior cavopulmonary shunt and an aortopulmonary shunt. During positive pressure ventilation, retrograde systolic flow in the superior vena cava was recorded, with low velocity anterograde flow. This pattern was reversed during spontaneous respiration. Low intrathoracic pressure plays an important role in maintaining anterograde pulmonary blood flow in patients with this physiology.- - - - - - - - - - ranking = 0.066301203890565keywords = ring (Clic here for more details about this article) |
3/778. catheter ablation in a patient with a congenital giant right atrial diverticulum presented as wolff-parkinson-white syndrome.A young woman symptomatic for tachycardia showed right ventricular preexcitation on the surface ECG with a pattern during induced atrial fibrillation suggestive of multiple APs. Noninvasive imaging techniques performed prior to catheter ablation demonstrated the presence of a giant right atrial diverticulum confirmed by hemodynamic procedure. This structure functioned as an enormous accessory AP. We performed catheter ablation of this pathway using a special 4-mm multipolar catheter inside the diverticulum. This is the first case of such as anomaly being successfully treated with catheter ablation.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
4/778. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region 8p23.1. To examine whether GATA-4 deficiency is present in patients with monosomy of 8p23.1 with congenital heart disease, we performed fluorescence in situ hybridization (FISH) with a GATA4 probe on cells from a series of patients with interstitial deletion of 8p23.1. Four individuals with del(8)(p23.1) and congenital heart disease were found to be haploinsufficient at the GATA4 locus by FISH. The GATA4 gene was not deleted in a fifth patient with del(8)(p23.1) who lacked cardiac anomalies. FISH analysis on cells from 48 individuals with congenital heart disease and normal karyotypes failed to detect any submicroscopic deletions at the GATA4 locus. We conclude that haploinsufficiency at the GATA4 locus is often seen in patients with del(8)(p23.1) and congenital heart disease. Based on these findings and recent studies showing that haploinsufficiency for other cardiac transcription factor genes (e.g., TBX5, NKX2-5) causes congenital heart disease, we postulate that GATA-4 deficiency may contribute to the phenotype of patients with monosomy of 8p23.1.- - - - - - - - - - ranking = 5.8673975922189keywords = chromosome (Clic here for more details about this article) |
5/778. Pediatric transesophageal color flow imaging 1990: the long and short of it.Noninvasive cardiac imaging has dramatically altered the practice of cardiology, specifically, the pediatric patient with congenital heart disease over the past decade. Since the introduction of transesophageal echocardiography nearly 15 years ago, addition of high-resolution cross-sectional imaging combined with Doppler color flow mapping has provided a new window to examine the heart. Recently, miniaturization of the transesophageal probe to "pediatric-size" has enabled its use in the smallest of infants to add significantly to the assessment of congenital heart malformations. Most recently, addition of a longitudinal-plane probe to the already-existent, transverse-plane probe has made biplane transesophageal echocardiography a reality with significant additional information being provided by orthogonal images of the cardiac structures. We used these probes in complementary fashion in 30 studies performed in 23 patients ages 1 day to 12 years with a mean of 35 months, weighing 2.6-40 kg (mean 12.4 kg). These studies were performed in the operating room, intensive care unit, cardiac catheterization laboratory, and outpatient department. Limitations of single-plane, transverse transesophageal echocardiography were overcome using the longitudinal-axis pediatric probe: left and right ventricular outflow tracts, distal pulmonary arteries, and all of the interventricular and atrial septa were easily visualized. Its use in the operating room and postoperative cardiac intensive care unit for continuous ventricular monitoring in otherwise-inaccessible patients also provided critical information. Transesophageal echocardiography in infants and small children is a valuable "noninvasive" imaging technique which, with addition of complementary longitudinal-plane views, offers important additional information regarding congenital heart malformations and their repair.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
6/778. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
7/778. Fungal endocarditis in critically ill children.All cases of infective endocarditis occurring from January 1990 to December 1996 at our institution were reviewed, with a special focus on fungal endocarditis. Five critically ill children with fungal endocarditis and eleven children with bacterial endocarditis were recorded. The proportion of fungal endocarditis in our series was 5/16 (31%) and candida albicans (4/5) was the most common fungal pathogen. Only one patient required heart surgery because of a loose patch but all the others were treated only by medical management for cure. The hospital survival rate was 80% (4/5) and the overall long-term survival rate was 60% (3/5) with only one death directly related to fungal infection. CONCLUSION: Despite the small number of cases, a sole medical approach including amphotericin b and long-term fluconazole prophylaxis for the treatment of fungal endocarditis in critically ill children seems to offer an alternative to surgical treatment which may be kept for failure of medical treatment.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
8/778. Jagged1 mutations in patients ascertained with isolated congenital heart defects.Mutations in Jagged1 cause alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosis to severe forms of tetralogy of fallot. AGS demonstrates highly variable expressivity with respect to all of the involved systems. This leads us to hypothesize that defects in Jagged1 can be found in patients with presumably isolated heart defects, such as tetralogy of fallot or pulmonic stenosis. Two patients with heart defects of the type seen in AGS and their relatives were investigated for alterations in the Jagged1 gene. Jagged1 was screened by a combination of cytogenetic and molecular techniques. Patient 1 was studied because of a four-generation history of pulmonic stenosis. Molecular analysis showed a point mutation in Jagged1 in the patient and her mother. Patient 2 was investigated owing to the finding of tetralogy of fallot and a "butterfly" vertebra on chest radiograph first noted at age 5 years. She was found to have a deletion of chromosome region 20p12 that encompassed the entire Jagged1 gene. The identification of these two patients suggests that other patients with right-sided heart defects may have subtle findings of AGS and Jagged1 mutations.- - - - - - - - - - ranking = 0.97789959870314keywords = chromosome (Clic here for more details about this article) |
9/778. A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
10/778. trisomy 2 in an acardiac twin in a triplet in-vitro fertilization pregnancy.A case is reported of twin reversed arterial perfusion (TRAP) sequence in a triamniotic dichorionic triplet pregnancy conceived by in-vitro fertilization which was diagnosed at 25 weeks of gestation by colour Doppler sonography. It highlights the risk of monochorionicity-associated morbidity in multiple pregnancies obtained by assisted conception and stresses the importance of chorionicity determination by early ultrasound examination. cytogenetic analysis of skin from the acardius showed trisomy 2 in all cells, whereas the karyotype in the monochorionic triplet was normal. This is an example of heterokaryotypic monozygotism where the chromosomal abnormality must have occurred during the early cleavage divisions. aneuploidy as a possible aetiological factor of TRAP sequence is discussed.- - - - - - - - - - ranking = 0.022100401296855keywords = ring (Clic here for more details about this article) |
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