Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ASD”

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 415 records · Page 23Linked to original sources
PubMed2026

Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.

Autism spectrum disorder (ASD; MIM 209850) is reported to vary globally from 0.01% in East Asian populations to 4.36% in certain Australian cohorts. Despite high heritability estimates (61-94%), the genetic architecture underlying ASD susceptibility remains poorly characterized across diverse populations, as most genomic studies have initially focused on individuals of European ancestry. To investigate ancestry-specific genetic contributions to ASD, we analyzed whole-genome sequencing data from three independent ASD cohorts. We identified admixed ASD probands (n = 1 033) and ancestry-matched controls (n = 1 033) and performed admixture mapping (AM). AM using five continental reference populations (European, African, East Asian, South Asian, and Native American) identified five ancestry-specific ASD-susceptibility loci, including one African-related locus at 1p21.2 near S1PR1 and four Native American-associated loci at chromosome 11q13.4. Three of these latter loci were contiguous and encompassed genes previously implicated in ASD, notably SHANK2 and DHCR7, with fine-mapping identifying a significantly associated variant between the two genes (rs77695321; P = 1.52 × 10⁻⁷). The fourth Native American-associated signal at 11q13.4 overlapped the folate receptor genes FOLR1 and FOLR3, with fine-mapping identifying a genome-wide significant variant (rs7950807; P = 5.21 × 10⁻⁸). A secondary admixture mapping analysis restricted to Latin American individuals, incorporating 6 487 Brazilian controls, identified 16 additional ancestry-specific loci across seven genomic regions.

Journal Article↗
PubMed2006

Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder.

Autism spectrum disorder (ASD) is a neurodevelopmental syndrome marked by impairments in social interactive functioning and communication skills, and the presence of repetitive and restrictive behaviors. Twin and linkage studies provide evidence that ASD is heritable and genetically complex. Genetic analyses of familial quantitative traits in those with ASD may help to reveal underlying risk genes. We report a quantitative trait locus (QTL) analysis of nonverbal communication (NVC) in 228 families from the autism genetics resource exchange (AGRE) ascertained for at least two siblings with ASD. QTL at 1p13-q12, 4q21-25, 7q35, 8q23-24, and 16p12-13 indicate that genes at these loci may contribute to the variation in NVC among those with ASD. Using the criteria of Lander and Kruglyak, the QTL at 1p13-q12 is 'suggestive', while the other four are 'possible'. To assess whether these QTL are likely to harbor genes contributing specifically to the deficits in NVC, linkage analysis of ASD sibships with the most severe NVC scores was conducted. The sibships were identified by ordered-subset analyses (OSA), and families with the most severe NVC scores displayed lod scores of 3.4 at 8q23-24 and 3.8 at 16p12-13, indicating that these two regions are likely to harbor gene(s) contributing to ASD by predisposing to deficits in NVC.

Adolescent↗
PubMed2003

Role of intracardiac echocardiographic guidance in transcatheter closure of atrial septal defects and patent foramen ovale using the Amplatzer device.

Transesophageal echocardiography (TEE) has been successfully used for guiding transcatheter device closure of secundum atrial septal defect (ASD) and patent foramen ovale (PFO). However, the use of TEE for device closure requires general anesthesia. Experience with intracardiac echocardiographic (ICE) guidance to close ASD and PFO is limited. One hundred eleven patients (76 female/35 male) with secundum ASD (82 patients) and PFO (29 patients) associated with a stroke underwent an attempt of transcatheter closure of their defects under ICE guidance using the new AcuNav catheter. The median age of patients was 40 years (range 2.5-80.7) and the median weight was 66 kg (range 12.7-128 kg). The median two-dimensional size of secundum defects as measured by ICE was 17 mm (range 3-32 mm). The median balloon stretched diameter of the ASDs was 22 mm (range 4-36 mm). Five patients had more than one defect that required placement of two devices to close the defects. The median Qp/QS ratio for patients with secundum ASD was 2.1 (range 1-18). ICE provided adequate views of the defects and surrounding structures and the various stages of device deployment. All patients had successful device placement, including the patients who received simultaneous two devices with immediate complete closure of the defects in 100 patients, whereas four and seven patients had trivial and small residual shunt, respectively. The median fluoroscopy time was 10.2 minutes (range 3.7-38.4 minutes) and the median total procedure time was 60 minutes (range 28-180 minutes). There were no complications related to the use of the AcuNav catheter. We conclude that ICE provided unique images of the atrial communications and facilitated device closure of secundum ASD and PFO in children and adults. We believe ICE should replace TEE as a guiding imaging tool for ASD and PFO device closure, thus eliminating the need for general anesthesia.

Adolescent↗
PubMed2001

Pulmonary venous flow in large, uncomplicated atrial septal defect.

BACKGROUND: The pulmonary venous flow velocity pattern (PVFVP) in atrial septal defect (ASD) has not been previously studied in detail. Normally, PVFVP is primarily determined by the left heart performance. We hypothesized that the impact of left-sided heart dynamics on PVFVP is diminished in patients with ASD because of the presence of a left-to-right shunt into the low-resistance right side of the heart. METHODS AND RESULTS: Transesophageal echocardiography was performed in 19 adults and 3 children with a large, uncomplicated secundum ASD (maximum diameter 0.6 to 3.0 cm). All patients were in normal sinus rhythm with an average heart rate of 78 bpm in adults and 116 bpm in children. In 21 subjects the antegrade PVFVP lacked distinct systolic (S) and diastolic (D) waves. Instead, we observed a single continuous antegrade wave extending from the beginning of systole to the onset of atrial contraction. Furthermore, the amplitude of the atrial reversal (AR) wave was smaller than in historical controls. In 3 patients in whom ASD was surgically repaired, we observed an immediate return of distinct S and D waves postoperatively. This confirmed that PVFVP abnormality was indeed the result of the ASD. Also a large increase in the AR wave amplitude (46 + 15 cm/s) was noted postoperatively. CONCLUSIONS: This previously unrecognized PVFVP comprising a single continuous antegrade wave and a diminished AR wave sheds new light on the hemodynamics of ASDs. Its presence may also alert the echocardiographer to the possibility of an ASD when the septal defect cannot be visualized directly.

Adolescent↗
PubMed2004

Traumatic stress in parents of children admitted to the pediatric intensive care unit.

OBJECTIVE: To measure the prevalence of parental acute stress disorder (ASD) and posttraumatic stress disorder (PTSD) and to examine the relationship between ASD symptoms and PTSD symptoms in parents of infants and children admitted to the pediatric intensive care unit (PICU). To examine the correlation between parental perceptions of illness severity and objective measures. To assess the association among demographic, situational, and illness factors and the severity of ASD and PTSD. DESIGN: Prospective cohort study. SETTING: Thirty-eight bed PICU at an urban children's hospital. PATIENTS: The parents of 272 children admitted to the PICU for >48 hrs. INTERVENTIONS: ASD symptoms were assessed using the Acute Stress Disorder Scale during the child's admission. PTSD symptoms were assessed using the PTSD Checklist at least 2 months after discharge. The severity of illness was measured using the Pediatric Risk of Mortality (PRISM III) score. MEASUREMENTS AND MAIN RESULTS: Of the 272 parents completing the initial assessment, 87 (32%) met symptom criteria for ASD. Of the 161 parents completing follow-up, 33 (21%) met symptom criteria for PTSD. PTSD symptoms at follow-up were associated with ASD symptoms assessed in the PICU, unexpected admission, parent's degree of worry that the child might die, and the occurrence of another hospital admission or other traumatic event subsequent to the index admission. Neither ASD nor PTSD responses were associated with objective measures of a child's severity of illness (PRISM III score). CONCLUSION: Traumatic stress symptoms are common among parents in the PICU and may persist long after discharge. There is strong support from these data for continued attention to supporting parents both during and after a child's PICU admission.

Attitude to Death↗
PubMed1996

Streptomyces akiyoshiensis differs from other gram-positive bacteria in the organization of a core biosynthetic pathway gene for aspartate family amino acids.

A partial Sau3Al digest of genomic DNA from Streptomyces akiyoshiensis was cloned in a Streptomyces-Escherichia coli shuttle vector, and the recombinant plasmids were used to transform E. coli CGSC 6212, which carries a mutation in the gene for aspartate semialdehyde dehydrogenase (Asd). One of 39,000 transformants tested grew on LB medium lacking diaminopimelate. A 17 kb plasmid (pJV21) isolated from this strain conferred prototrophy when used to transform E. coli CGSC 6212. The gene responsible was located on a 2.2 kb DNA fragment by subcloning. Nucleotide sequencing and codon preference analysis of the subcloned insert and of the 3.3 kb insert in the Asd(-)-complementing plasmid pJV36 located three complete and two incomplete open reading frames (ORFs). One of these (ORF3), encoding a polypeptide of 338 amino acids (Mr 35484), was identified as the gene for Asd by comparing its sequence with database sequences of asd from other bacteria. The inability of pJV30, in which a segment of ORF3 had been deleted, to transform E. coli CGSC 6212 to prototrophy supported this assignment. Southern hybridization indicated that the sequenced region of the cloned DNA fragment represented a continuous segment of the S. akiyoshiensis chromosome. The deduced amino acid sequences of the ORFs adjacent to asd showed no similarity to sequences for aspartate kinase (Ask); also, transformation with plasmids containing asd and adjacent regions from the S. akiyoshiensis chromosome did not complement the ask mutant E. coli CGSC 5074. It is concluded that asd and ask in S. akiyoshiensis are not present in an operon, and thus are organized differently from these genes in the Gram-positive bacteria previously examined.

Amino Acid Sequence↗
PubMed2005

Assessment of atrial septal defect size with 3D-transesophageal echocardiography: comparison with balloon method.

BACKGROUND: Transcatheter closure of atrial septal defect (ASD) is an alternative approach to surgery in selected patients. Balloon stretched diameter (BSD) is considered as the standard way of measuring ASD size. Three-dimensional transesophageal echocardiography (3D-TEE) provides views of the ASD allowing its measurement and identifying its spatial relation with neighboring structures. Our aim was to compare the BSD and 3D-TEE methods to measure the ASD size before transcatheter closure. METHODS AND RESULTS: Seventy-six consecutive patients were enrolled for ASD device closure. Three-dimensional transesophageal echocardiography and balloon sizing were adequately performed in 70 patients before the defect closure. The mean maximal diameter measured by 3D-TEE was 20 +/- 15 mm (range 10-28) while the mean BSD was 22 +/- 4.8 mm (range 9-31). When comparing the 3D-TEE and transcatheter measurements, there was a good correlation between the two methods (y = 3.15 + 0.77x; r = 0.8). The defect as viewed by 3D-TEE was unique in 54 patients and multiple in 16 patients. In patients with a single defect, the correlation between the two methods was high (y = 1.74 + 0.84x; r = 0.85) while patients with multiple ASDs, the correlation was poor (y = 12.4 + 0.4x; r = 0.45). Transcatheter closure was performed successfully in 86%. The mean size of the Amplatzer device was 23 +/- 4.8 mm (range 4-32). The reference to choose the size of the device was the BSD in single defects and the 3D-TEE maximal diameter in multiple defects. CONCLUSION: Three-dimensional transesophageal echocardiography and transcatheter methods are two complementary techniques for the success of transcatheter ASDs closure.

Adult↗
PubMed2005

The relationship between vocabulary, grammar, and false belief task performance in children with autistic spectrum disorders and children with moderate learning difficulties.

BACKGROUND: The aim of this study was to examine the relationship between language and theory of mind in children with autistic spectrum disorders (ASD) and children with moderate learning difficulties (MLD). Previous studies have found a strong association between language and theory of mind in a range of groups, but mostly have not included measures of both grammar and vocabulary; including these enables us to speculate about the causal direction of the relationship. METHODS: Fifty-eight children with ASD and 118 children with MLD were given standardised assessments of vocabulary and grammar, along with standard theory of mind tasks. RESULTS: The relationship between language and theory of mind was more evident in children with ASD than in those with MLD, and grammar was a particularly strong predictor of theory of mind performance in children with ASD. Children with MLD performed better on false belief (FB) tasks than did children with ASD, and their performance was more predictable across the different theory of mind tasks. CONCLUSIONS: Language, in particular grammar, and theory of mind appear to be more strongly related in children with ASD than in those with MLD. We speculate that this relationship may be causal, with some grammatical understanding being a precursor of theory of mind. The implications of these findings are discussed in relation to possible routes for compensatory strategies for mentalising in children with ASD.

Autistic Disorder↗
PubMed2006

Development in infants with autism spectrum disorders: a prospective study.

BACKGROUND: Autism is rarely diagnosed before three years of age despite evidence suggesting prenatal abnormalities in neurobiological processes. Little is known about when or how development becomes disrupted in the first two years of life in autism. Such information is needed to facilitate early detection and early intervention. METHODS: This prospective study of autism spectrum disorders (ASD) examined development using the Mullen Scales of Early Learning (MSEL) in 87 infants tested at target ages 6, 14, and 24 months. Participants came from infants at high risk (siblings of children with autism) and low risk (no family history of autism) groups. Based on language test scores, Autism Diagnostic Observation Schedule, and clinical judgment at 24 months of age, participants were categorized as: unaffected, ASD, or language delayed (LD). Longitudinal linear regression and ANOVA models were applied to MSEL raw scores, and estimates were compared between the three diagnostic groups. RESULTS: No statistically significant group differences were detected at 6 months. By 14 months of age, the ASD group performed significantly worse than the unaffected group on all scales except Visual Reception. By 24 months of age, the ASD group performed significantly worse than the unaffected group in all domains, and worse than the language delayed group in Gross Motor, Fine Motor, and Receptive Language. The developmental trajectory of the ASD group was slower than the other groups', and showed a significant decrease in development between the first and second birthdays. CONCLUSIONS: Variations from typical and language delayed development are detectable in many children with ASD using a measure of general development by 24 months of age. Unusual slowing in performance occurred between 14 and 24 months of age in ASD.

Algorithms↗
PubMed2006

Real time three-dimensional transthoracic echocardiography for guiding Amplatzer septal occluder device deployment in patients with atrial septal defect.

BACKGROUND: Transcatheter Amplatzer septal occluder (ASO) device closure of atrial septal defects (ASDs) has traditionally been guided by two-dimensional transesophageal echocardiography (2D-TEE) and intracardiac echocardiography (ICE) modalities. Real time three-dimensional transthoracic echocardiography (RT3D-TTE) provides rotating images to define ASD and adjacent structures with potential as an alternative to 2D-TEE or ICE for guiding the device closure of ASD. Our aim was to assess the feasibility and effectiveness of RT3D-TTE in parasternal four-chamber views to guide ASO device closure of ASD. METHODS AND RESULTS: From July 2004 to August 2005, 59 patients underwent transcatheter ASO device closure of ASD. The first 30 patients underwent 2D-TEE guidance under general anesthesia and the remaining 29 patients underwent RT3D-TTE guidance with local anesthesia. All interventions were successfully completed without complications. The clinical characteristics and transcatheter closure variables of RT3D-TTE and 2D-TEE were compared. Echocardiographic visualization of ASD and ASO deployment was found to be adequate when using either methods. Catheterization laboratory time (39.1 +/- 5.4 vs 78.8 +/- 14.1 minutes, P < 0.001) and interventional procedure length (7.6 +/- 4.2 vs 15.3 +/- 2.9 minutes, P < 0.001) were shortened by using RT3D-TTE as compared with 2DE-TEE. There was no difference in the rate of closure following either method, assessed after a 6-month follow-up. The maximal diameter measured by RT3D-TTE and 2D-TEE was correlated well with a balloon-stretched ASD size (y = 0.985x + 0.628, r = 0.924 vs y = 0.93x + 2.08, r = 0.885, respectively). CONCLUSION: RT3D-TTE may be a feasible, safe, and effective alternative to the standard practice of using 2D-TEE to guide ASO deployment.

Adolescent↗
PubMed1991

Double-umbrella device for transvenous closure of patent ductus arteriosus and atrial septal defect: first experience.

A new device for transcatheter closure of heart defects was constructed and used to close a patent ductus arteriosus (PDA) in seven adult patients and an atrial septal defect (ASD) in six adult patients. The device consisted of two self-opening umbrellas and a piece of Ivalon. A Dacron patch was sewn on the "male" umbrella for the ASD closure. The device required a 9 Fr introducing venous sheath for PDA and a 14 Fr sheath for the ASD. The venoarterial (right femoral vein-PDA or ASD-left femoral artery) long wire track was arranged. The "male" umbrella and the Ivalon were inserted transvenously one after another, advanced over the long wire across the PDA or ASD and extruded into the aorta or left atrium, respectively. The "female" umbrella was advanced transvenously over the long wire into the pulmonary artery (for PDA) or into the right atrium (for ASD). The metal conus on the long wire was used to pull the "male" umbrella while a special stiff pusher was used to bring the "female" umbrella to the "male" umbrella along the long wire. By these means the umbrellas interlocked at the defect level and closed it. The long wire was then removed through the left femoral artery. Protrusion of the interlocked device through the PDA occurred in one patient and through the ASD in two patients. In all three patients the device was kept on the wire until surgery and an early postrelease device embolization was avoided. In all other patients the defects were successfully closed. The follow-up of 3-27 months was uneventful in all patients. These results indicate that the described procedure is effective and safe, and warrants further clinical trial.

Adult↗
PubMed2005

Closure of atrial and ventricular septal defects should be performed by the surgeon.

Surgeons look back on 57 years of experience in the closure of atrial septal defects (ASDs) and 46 years in the closure of ventricular septal defects (VSDs). The transcatheter approaches to repair ASDs started first in the 1980s and for VSDs 8 years later. This study sought to reveal the surgical features only given by the surgical therapy and the limitation of interventional ASD and VSD closure. A variety of surgical techniques including the minimal invasive techniques for ASD or VSD closure are well described in recent publication with good results. The surgical trend is to improve the cosmetic outcome by minimizing the size of skin incision. The latest robotically assisted technique requires only four stab wound incisions. New techniques and devices have revolutionized the transcatheter technique but could not achieve the surgical ability to close all types of ASD or VSD, control arrhythmias, and correct additional valve disease or malformation. The mortality for interventional and surgical procedures approaches zero in recent publication. The residual shunting after surgical closure of ASD varies from 2% to 7.8% versus 5% to 33% after interventional closure. General complications caused by the surgical procedure are negligible; however, the shortness of hospital stay and the cosmetic appeal is an advantage of interventional ASD closure. There is no scientific comparison of surgical vs. interventional VSD closure yet.

Cardiac Catheterization↗
PubMed1994

The 70-kilodalton pertussis toxin-binding protein in Jurkat cells.

125I-ASD photoaffinity-labeling derivatives of pertussis toxin (125I-ASD-PT) or lipopolysaccharide (125I-ASD-LPS) labeled similar 70-kDa proteins in Jurkat cells, a cell line derived from human CD4+ T lymphocytes. Labeling of this 70-kDa protein by 125I-ASD-PT was inhibited by underivatized PT but not by underivatized LPS. However, an immunoglobulin M monoclonal antibody with specificity for the p73 LPS receptor in murine splenocytes (S. W. Bright, T.-Y. Chen, L. M. Flebbe, M.-G. Lei, and D. C. Morrison, J. Immunol. 145:1-7, 1990) inhibited 125I-ASD-PT labeling of the 70-kDa species in Jurkat cells. Our results suggested that PT may bind to the same 70-kDa protein as LPS does in Jurkat cells but that PT and LPS bind to different sites on this receptor candidate. 125I-ASD-PT photoaffinity labeling of the 70-kDa protein was also inhibited by underivatized glycoproteins to which PT has been shown to bind, and this inhibition correlated with the relative binding affinities of the glycoproteins for PT. 125I-ASD derivatives of two sialic acid-specific plant lectins, Maackia amurensis leukoagglutinin and Sambucus nigra agglutinin, with oligosaccharide binding specificities similar to those of PT also labeled a 70-kDa protein in Jurkat cells. This suggests that the 70-kDa PT receptor candidate in Jurkat cells likely contains sialooligosaccharide sequences to which PT, M. amurensis leukoagglutinin, and S. nigra agglutinin bind. The cross-reacting epitope recognized by monoclonal antibody 5D3 in this 70-kDa species might overlap the PT- and LPS-binding sites.

CD4-Positive T-Lymphocytes↗
PubMed1996

Lipopolysaccharide binding proteins on polymorphonuclear leukocytes: comparison of adult and neonatal cells.

We have previously shown that polymorphonuclear leukocytes (PMN) from cord blood of normal full-term infants have a decreased priming response to lipopolysaccharide (LPS) compared with PMN of adults. Because the reason for this difference is poorly understood, we compared LPS binding on PMN from adults and newborns by using a photoactivatable iodinated LPS (from Escherichia coli O111:B4), coupled to 2-(p-azidosalicylamido)-1,3'-dithopropionate (LPS-ASD) to covalently link LPS to the PMN membrane. We incubated 2 x 10(4) adult or neonatal PMN with 125I-ASD-LPS (100 ng/ml) together with unlabelled LPS (0 to 100,000 ng/ml) for 20 min at 4 degrees C. The maximum total 125I-ASD-LPS binding to newborn PMN (1,004 +/- 103 cpm) was lower than that binding to adult PMN (3,583 +/- 444 cpm; P < 0.01 with respect to newborn PMN). However, the concentration of unlabelled LPS that displaced 50% of the maximum specifically bound 125I-ASD-LPS was similar for PMN from adult and newborn infants (-4.85 +/- 0.04 and -5.13 +/- 0.14 log g of LPS per ml, respectively; P > 0.05). We further assessed the membrane binding of 125I-ASD-LPS to PMN by using membrane extracts analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and autoradiography. LPS binding proteins were found at approximately 73, 55 to 57, and 25 kDa in both adult and neonatal PMN. However, PMN from newborn infants had markedly lower membrane-associated 125I-ASD-LPS at the 55- to 57- and 25-kDa protein bands as indicated by the intensity of the autoradiograph. Binding of LPS at these bands was specific for the lipid A portion of LPS, since purified unlabelled lipid A displaced 125I-ASD-LPS in a dose-dependent manner. Thus, PMN from newborn infants bind less LPS than do PMN from adults, even though the sites for LPS membrane binding appear to be the same.

Acute-Phase Proteins↗
PubMed2003

High magnification bronchovideoscopy combined with narrow band imaging could detect capillary loops of angiogenic squamous dysplasia in heavy smokers at high risk for lung cancer.

BACKGROUND: We investigated the use of high magnification bronchovideoscopy combined with narrow band imaging (NBI) for the detailed examination of angiogenic squamous dysplasia (ASD). This was carried out in relation to bronchial vascular patterns with abnormal mucosal fluorescence in heavy smokers at high risk for lung cancer. METHODS: Forty eight patients with sputum cytology specimens suspicious or positive for malignancy were entered into the study. Conventional white light and fluorescence bronchoscopic examination was first performed. Observations by high magnification bronchovideoscopy with conventional white light were made primarily at sites of abnormal fluorescence, and then repeated with NBI light to examine microvascular networks in the bronchial mucosa. Spectral features on the RGB (Red/Green/Blue) sequential videoscope system were changed from the conventional RGB broadband filter to the new NBI filter. The wavelength ranges of the new NBI filter were B1: 400-430 nm, B2: 420-470 nm, and G: 560-590 nm. ASD tissues were also examined using a confocal laser scanning microscope equipped with argon-krypton (488 nm) and argon (514 nm) laser sources. RESULTS: The microvessels, vascular networks of various grades, and dotted vessels in ASD tissues were clearly observed in NBI-B1 images. Diameters of the dotted vessels visible on NBI-B1 images agreed with the diameters of ASD capillary blood vessels diagnosed by pathological examination. Capillary blood vessels were also clearly visualised by green fluorescence by confocal laser scanning microscopy. There was a significant association between the frequency of dotted vessels by NBI-B1 imaging and tissues confirmed as ASD pathologically (p=0.002). CONCLUSIONS: High magnification bronchovideoscopy combined with NBI was useful in the detection of capillary blood vessels in ASD lesions at sites of abnormal fluorescence. This may enable the discrimination between ASD and another pre-invasive bronchial lesion.

Adult↗
PubMed2006

Evaluation of exercise capacity with cardiopulmonary exercise testing and type B natriuretic peptide concentrations in adult patients with patent atrial septal defect.

UNLABELLED: Adults with patent atrial septal defect (ASD) usually find their exercise capacity satisfactory, and therefore hesitate to accept proposed surgical treatment of the heart disease. The aim of our study was to evaluate both the exercise capacity, using the cardio-pulmonary stress test, and brain natriuretic peptide (BNP) levels in asymptomatic adults with ASD. Thirty-six patients with patent secundum type ASD (aged mean 44.7 +/- 8.2 years) were studied. The control group consisted of 25 healthy subjects at the mean age of 45.6 +/- 6.1 years. Echocardiography and CPST were performed and BNP levels measured in all subjects. Oxygen uptake (VO2 max) was lower in ASD patients than in controls (22.1 +/- 5.6 vs. 30.0 +/- 6.8 ml/kg/min, p = 0.00001); the VE/VO2 slope was elevated in ASD patients compared with healthy subjects (31.3 +/- 6.6 vs. 26.9 +/- 3.3, p = 0.001), and exceeded 34 in 5 patients. VO2 max showed a negative correlation with the pulmonary to systemic flow ratio Qp:Qs (r = -0.46, p = 0.004), and a positive correlation was found between the VE/VO2 slope and Qp:Qs (r = 0.32, p = 0.05). BNP levels were higher in the ASD group than in the controls (60.6 +/- 49.9 vs. 32.6 +/- 24.5 pg/ml, p = 0.02). BNP correlated positively with RV diameter and Qp:Qs (r = 0.38 and 0.39 respectively, p = 0.03) and negatively with maximum VO2 (r = -0.5, p = 0.004) and VO2% (r = -0.32, p = 0.07). CONCLUSIONS: Although most adult patients with ASD perceive their exercise capacity as satisfactory, objective assessment reveals that in fact it is significantly decreased. BNP levels are increased comparing to healthy individuals. Decreased exercise capacity and increased BNP levels seem to result from right ventricular volume overload.

Adult↗
PubMedDate not supplied

Complications of cerebrospinal fluid shunt antisiphon devices.

The case histories of 38 children with implanted antisiphon devices (ASD) were retrospectively reviewed. Sixty-three percent suffered a shunt malfunction within 5 years of ASD implantation. The probability of shunt malfunction within 1 year was of 40%. Patients with myelomeningocele experienced the highest rate of malfunction. Age, order of ASD implantation (whether implanted primarily or secondarily), shunt pressure, and reason for ASD insertion did not significantly alter the incidence of malfunction. Fifty percent of the shunt complications were specifically related to ASD malfunction. Functional obstruction of the shunt system as determined by evidence of clinical shunt obstruction with documented patency on shunt flow testing occurred in 10 of 38 patients. No variable studied could be significantly related to the probability of developing an ASD-related complication. Functional obstruction of the ASD is a common and unpredictable complication of these devices.

Adolescent↗
PubMed2003

Beating atrial septal defect closure monitored by epicardial real-time three-dimensional echocardiography without cardiopulmonary bypass.

BACKGROUND: We assessed the feasibility of beating atrial septal defect (ASD) closure monitored by real-time 3D echocardiography (RT3DE). METHODS AND RESULTS: RT3DE was developed with prototype ultrasound equipment consisting of a high-speed 3D rendering unit with a frame rate of 5 to 10 frames/s. We also developed a prototype semiautomatic suture device and suture cutting system. In the experiment, 12 mongrel dogs were anesthetized, and after median sternotomy, the echo probe was applied directly to the surface of the right atrium. Three surgical maneuvers (balloon atrial septectomy, enlargement of the ASD, and ASD closure) were performed through the atrial port inserted into the right atrial appendage. The heart was then excised, and the area of the ASD measured by RT3DE was compared with its area measured directly. The ASD was successfully closed in all experimental animals except the first 2. Examination of the excised heart showed that none of the sutures were loose. The mean area of the ASD was 82.5+/-38.6 mm(2) when measured by RT3DE and 81.6+/-38.2 mm(2) when measured directly, and there was a significant correlation between the areas measured by RT3DE and those measured directly (echo measurements=1.007xdirect measurements+0.337; P<0.0001). A Bland-Altman analysis revealed close agreement between the results obtained by the 2 methods (7.807 mm(2) upper and -6.024 mm(2) lower limit of agreement). CONCLUSIONS: Introduction of RT3DE, a semiautomatic suture device, and a suture cutting system made beating ASD closure without cardiopulmonary bypass possible.

Animals↗