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At least 811 records · Page 45Linked to original sources
PubMed2004

Absent posteroinferior and anterosuperior atrial septal defect rims: Factors affecting nonsurgical closure of large secundum defects using the Amplatzer occluder.

Using transesophageal echocardiography, we sought to determine the anatomic characteristics of the secundum atrial septal defects (ASDs) that extend into the inferior sinus venosus and have no posteroinferior (PI) rim, to determine the factors related to potential closure with an Amplatzer occluder. We also sought to understand why large secundum ASDs with a PI but without an anterosuperior (AS) rim may require special techniques to reorient the left atrial disk before deployment of the waist and right atrial disk. We measured the lengths of 5 separate rims of the circumferences of 76 secundum ASDs, including anteroinferior, AS, superior, posterosuperior, and PI rims. We also measured anteroposterior and superoinferior defect diameters, total septal lengths, and the ratios of defect diameter to total septal length. The atrial depth was measured at the axial angle of the delivery sheath in 5 defects with no AS rim for which special techniques were required to achieve successful closure. Of 76 secundum ASDs, 13 (17%) had no PI rim. Each defect extended from the fossa ovalis into the inferior sinus venosus. Compared with defects with a PI rim, the factors related to potential closure included 100% larger defect diameters, shorter posterosuperior rim lengths, larger defect to total septal length ratios, and completely flat posterior atrial walls. When the AS rim was absent the factors related to the need for special techniques included diameters >/= 22 mm, atrial depth < the calculated Amplatzer occluder left atrial disk diameter, rigid wire/disk interface, and obligatory left atrial disk orientation more or less perpendicular to the atrial septal plane.

Adolescent↗
PubMed2006

A family based linkage analysis of HLA and 5-HTTLPR gene polymorphisms in Sardinian children with autism spectrum disorder.

Autism spectrum disorders (ASD) are characterized by a broad range in clinical presentation. Although a definite genetic cause has not yet been fully demonstrated, family based studies suggest that a multigenic pattern may be responsible for susceptibility, but most results are conflicting and have yet to be replicated. The purpose of this investigation was to analyze the linkage of the human leukocyte antigen (HLA) and the human serotonin transporter coding (5-HTTLPR) genes with ASD in a group of 37 families of Sardinian ethnicity in insular Italy. In 50% of these families, ASD is linked to HLA, and in the other 50% it is linked to 5-HTTLPR polymorphic genes; in other words, linkage to one or the other was evident in all cases. Despite a very homogenous genetic pattern being generally reported for Sardinians, the linkage observed with HLA and 5-HTTLPR genetic regions indicated a statistically defined heterogeneity (p=0.002). No allelic HLA or 5-HTTLPR polymorphisms were specifically associated with ASD, suggesting these loci as markers of other genes mapped in their close proximity that may be more directly involved and thus may merit further analytical studies.

Adolescent↗
PubMed2004

On-line intracardiac echocardiography alone for Amplatzer Septal Occluder selection and device deployment in adult patients with atrial septal defect.

BACKGROUND: During the last few years, several different devices have been proposed for atrial septal defect (ASD) percutaneous closure. For the Amplatzer Septal Occluder (ASO) device, accurate balloon sizing is considered of paramount importance because the prosthesis waist has to be exactly adjusted to the defect diameter (+/-1 mm). In this study, we aimed to demonstrate the possibility of marked misinterpreting of the actual defect size using the balloon technique in patients with secundum ASD and to evaluate the accuracy of intracardiac echocardiography (ICE) measurements as a new method for selecting the size of ASO device. METHODS: Between February 1999 and December 2000, 166 consecutive adult patients underwent percutaneous transvenous secundum ASD occlusion using the ASO device. In 124 patients (control group), ASD were closed by conventional methods. In 13 patients (pilot group), balloon pulling technique was used in size selection, whereas ICE was used on-line to monitor device placement and off-line to assess its possibilities for accurate quantitative measurements and qualitative evaluation. In 31 patients (study group), ICE was used as the sole imaging tool both for guiding device selection and monitoring the procedure. All patients underwent complete transthoracic echocardiographic study before discharge and during follow-up visits at 3 and 12 months. RESULTS: Successful device implantation was accomplished in 163 of the 166 patients (98.2%). Short-term follow-up results were available in all eligible patients at least 3 months. Complete occlusion was demonstrated in 91.4% and 92.2% of patients in the control and pilot groups, respectively, increasing to 97.3% in the study group (p<0.01 vs. both control and pilot groups). There were no significant differences in mean ASO diameters in the control and pilot groups (20+/-7.7 and 22+/-5.4 mm, respectively), whereas the mean size of the devices used in the study group was significantly larger (27.4+/-6.2 mm, p<0.01 vs. both control and pilot groups). In the pilot group, the underestimation effect of the balloon strategy was evident, with a mean 12.3% larger diameter required on ICE measurements. Moreover, a misalignment between the ASO and the atrial septum was seen on ICE in 9 of 13 patients of the pilot group, whereas good apposition of the ASO on the septum secundum was seen in all patients of the study group. CONCLUSION: ICE is a safe and effective method for selecting ASO size and continuous monitoring of the procedure. In contrast to the previously reported implantation procedure (device-to-defect ratio 1:1), a device 10-20% larger than invasively measured stretched defect diameter should be chosen and implanted on the basis of the ICE data.

Adult↗
PubMed2006

Sildenafil therapy for pulmonary arterial hypertension associated with atrial septal defects.

BACKGROUND: There is increasing evidence for beneficial effects of the type 5 phosphodiesterase inhibitor, sildenafil, in idiopathic pulmonary arterial hypertension (PAH). The effects of sildenafil in severe PAH associated with an atrial septal defect (ASD) have not been clearly delineated. METHODS: This extended case series reviews our experience with sildenafil treatment in three patients with severe PAH and Eisenmenger syndrome associated with an ASD. Case notes were reviewed for baseline and follow-up anatomic, clinical and haemodynamic characteristics. RESULTS: Of three patients identified, median age 44.3 years (range, 28 to 59 years), two had large secundum ASDs and the other a sinus venous defect. All patients had severe PAH and were desaturated at rest and/or during exercise. Sildenafil was started because of progressive and severe effort intolerance. All patients experienced symptomatic improvement, had higher arterial saturations (range 8-19%) and improvement in effort tolerance (88 m and 56 m improvement in 6-min walk test distance (MWTD) in two patients). Right ventricular (RV) function and Doppler derived RV systolic pressure improved in two patients. Pulmonary arterial pressures decreased in two patients who had cardiac catheterization (range 4 to 14 mm Hg). Pulmonary vascular resistance decreased from 7.58 to 3.8 Wood's units in one patient who is now awaiting surgery. Another patient developed significant pulmonary vasoreactivity (8.3 to 6.2 Wood's units with 100% oxygen) after 16 months of sildenafil therapy. CONCLUSIONS: Sildenafil not only relieves symptoms associated with severe PAH in patients with large ASDs, but also improves pulmonary arterial hemodynamics and RV function.

Adult↗
PubMedDate not supplied

Reversed arthroscopic subacromial decompression for massive rotator cuff tears.

This prospective study evaluates the results of a procedure for massive rotator cuff tears that we term reversed arthroscopic subacromial decompression (ASD). The procedure includes an arthroscopic debridement of the subacromial space and glenohumeral joint, an arthroscopic tuberoplasty, and depending on the pathologic condition of the long head of the biceps, a biceps tendon tenotomy. Reversed ASD avoids a classic acromioplasty in order to preserve the integrity of the coracoacromial arch. Twenty-three patients with a mean age of 69 years underwent this procedure. After a mean follow-up of 40 months, the age-adjusted Constant score increased significantly, from 65.9% to 90.6% (P <.001), with 14 excellent, 5 good, 2 satisfactory, and 1 poor result. Preexisting osteoarthritic changes increased significantly but had no impact on the final clinical results. The acromiohumeral distance decreased from 5.1 to 4.5 mm (P =.004). There were no complications directly related to the surgical procedure. When compared with classic ASD studies for massive rotator cuff tears, we obtained similar midterm results with regard to pain relief, functional recovery, and patient satisfaction. We, therefore, conclude that reversed ASD with tenotomy of the long head of the biceps tendon offers a less invasive treatment strategy for massive rotator cuff tears while preserving the integrity of the coracoacromial arch.

Aged↗
PubMed2005

Structural white matter deficits in high-functioning individuals with autistic spectrum disorder: a voxel-based investigation.

A number of imaging and neuropathological studies have reported structural abnormalities in white matter areas such as the corpus callosum in autism spectrum disorder (ASD). Differences in both global brain volume and the size of specific neural structures have been reported. In order to expand these previously reported findings and to describe more precisely the nature of such structural changes, we performed a voxel-based morphometric whole brain analysis, using a group-specific template, in male adolescents with ASD. Fifteen individuals with normal intelligence and ASD, and a group of 16 controls, matched for age, sex, and IQ, were investigated. High-resolution T1-weighted 3D data sets were acquired and analysed. Local white matter volume deficits were found in the corpus callosum, particularly in the anterior splenium and isthmus, and right hemisphere. White matter volume deficits were also found in the left middle temporal, right middle frontal, and left superior frontal gyri. No significant areas of increased white matter volume were found. Our findings support the hypothesis that reduced white matter volume in the corpus callosum and right hemisphere may play a role in the pathophysiology of ASD.

Adolescent↗
PubMed2006

Attention does not modulate neural responses to social stimuli in autism spectrum disorders.

We investigated whether individuals with autism spectrum disorders (ASD) would show attentional modulation for social (face) and non-social (house) stimuli. Sixteen individuals with ASD and 16 matched control participants completed a task in which pairs of face and house stimuli were present on every trial, with one of the pairs randomly assigned to attended locations and the other to unattended locations. Both mass-univariate (SPM) and region of interest analyses suggested that responses to houses were modulated by attention in both groups, but that only the control participants demonstrated attentional modulation of face-selective regions. Thus, the participants with ASD demonstrated a lack of attentional modulation which was particularly evident for the social stimulus. Analyses of effective connectivity indicated that these results were due to a failure of attention to modulate connectivity between extrastriate areas and V1. We discuss how these results may suggest a mechanism to explain the reduced salience of social stimuli in ASD.

Adult↗
PubMed2006

Structural correlates of intellectual impairment and autistic features in adolescents.

Intellectual disability, a common but under-researched condition, is strongly associated with autism spectrum disorders (ASD). Although studies have investigated the neural correlates of intelligence quotient (IQ) and ASD in intellectually unimpaired subjects, these issues have not been addressed in intellectually impaired subjects. We studied 63 intellectually disabled adolescents receiving additional learning support and 72 controls using whole brain tissue volumes extracted from native space and voxel-based morphometry (VBM) in normalised space. We applied a qualitative and quantitative review of VBM preprocessing and modified the optimised method to establish optimum co-registration of the brains in normalised space. We report tissue density differences at cluster level with adjustment for underlying smoothness. Individuals with intellectual disability had smaller total white matter and total brain tissue volumes than controls, as well as reduced grey matter density in the right cerebellar hemisphere and left temporo-parietal cortex, and reduced white matter density in the posterior corpus callosum. Intellectually disabled subjects were additionally subgrouped according to their degree of reported autistic features. Reduced grey matter density was detected in the thalamus of subjects with autistic features scoring within the pervasive developmental disorder range as compared to subjects below the threshold for ASD, and increased white matter density was detected in the left superior temporal gyrus of subjects scoring above the threshold for autism as compared to subjects below the threshold for ASD.

Adolescent↗
PubMed2005

The role of nurses in screening for autistic spectrum disorder in pediatric primary care.

This article addresses the issue of integration of routine screening for autism spectrum disorder (ASD) in pediatric primary care. The relationship between screening and patient outcome is discussed. The ASD screening recommendations of the American Academy of Pediatrics and practical issues associated with their application are then reviewed. Finally, data from a pilot project to prepare nurses to conduct ASD screening during routine pediatric health visits are presented. The authors discuss the role of nurses in establishing systems within pediatric primary care to identify and refer children at risk for ASD.

Autistic Disorder↗
PubMed2006

Global and configural visual processing in adults with autism and Asperger syndrome.

This study was designed to explore how adults with autism and Asperger syndrome (ASD) would visually process compound figures. They were tested in two tasks, one involving hierarchical global/local stimuli, the other involving face-like or geometrical stimuli where the processing of the inter-elemental spatial relationships was emphasized. Adults with ASD showed, like controls, a preference for the global level of the hierarchical stimuli. With the stimuli involving inter-elemental spatial relationship manipulations, the adults with ASD showed a preference for local elements, whereas controls did not show a preference. This supports earlier findings from children with ASD, suggesting that though individuals with autism may process global aspects of stimuli in priority, they tend to specific aspects in stimuli containing both local and configural elements.

Adolescent↗
PubMed2006

Autism, the superior temporal sulcus and social perception.

The most common clinical sign of autism spectrum disorders (ASD) is social interaction impairment, which is associated with communication deficits and stereotyped behaviors. Based on recent brain-imaging results, our hypothesis is that abnormalities in the superior temporal sulcus (STS) are highly implicated in ASD. STS abnormalities are characterized by decreased gray matter concentration, rest hypoperfusion and abnormal activation during social tasks. STS anatomical and functional anomalies occurring during early brain development could constitute the first step in the cascade of neural dysfunction underlying ASD. We will focus this review on the STS, which has been highly implicated in social cognition. We will review recent data on the contribution of the STS to normal social cognition and review brain-imaging data implicating this area in ASD. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).

Animals↗
PubMed2024

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding regions: human accelerated regions (HARs), which show signatures of positive selection in humans; experimentally validated neural VISTA enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole-genome analysis of >16,600 samples and >4,900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly contribute, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in VEs near OTX1 and SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved non-coding regions in ASD risk and suggest potential mechanisms of how regulatory changes can modulate social behavior.

Humans↗
PubMed2006

Frequency of epileptiform EEG abnormalities in a sequential screening of autistic patients with no known clinical epilepsy from 1996 to 2005.

Autism spectrum disorders (ASDs) affect 1 in 166 births. Although electroencephalogram (EEG) abnormalities and clinical seizures may play a role in ASDs, the exact frequency of EEG abnormalities in an ASD population that has not had clinical seizures or prior abnormal EEGs is unknown. There is no current consensus on whether treatment of EEG abnormalities may influence development. This retrospective review of 24-hour ambulatory digital EEG data collected from 889 ASD patients presenting between 1996 and 2005 (with no known genetic conditions, brain malformations, prior medications, or clinical seizures) shows that 540 of 889 (60.7%) subjects had abnormal EEG epileptiform activity in sleep with no difference based on clinical regression. The most frequent sites of epileptiform abnormalities were localized over the right temporal region. Of 176 patients treated with valproic acid, 80 normalized on EEG and 30 more showed EEG improvement compared with the first EEG (average of 10.1 months to repeat EEG).

Adolescent↗
PubMed2006

[Adult Still's disease with atypical skin manifestations].

Adult Still's disease (ASD) is an uncommon inflammatory disease of unknown etiology. It is characterized by the triad of intermittent high fever, evanescent rash and polyarthralgia or polyarthritis. We present the case of a 29-year-old woman with ASD and persistent erythematous papule on neck and upper part of the trunk. The presence of fixed lesions is not characteristic of ASD, but its appearance during development of the disease suggests that they are a manifestation of it. Recently, other skin manifestations of ASD have been published, but they are not well-known.

Adult↗
PubMed1976

The natural history of small atrial septal defects; long-term follow-up with serial heart catheterizations.

Thirty-nine patients with a small ASD of the secundum type were followed clinically for 5 to 21 years (mean 11.6 years); no evidence of deterioration was found. In 26 of these cases recatheterization was carried out with a mean follow-up period of 9.8 years. No significant changes were found in most patients; in four patients, however, the left-to-right shunt had increased significantly. Our recommendations are that we will continue to advise surgery in patients with large ASD's, whereas we still do not recommend surgery in patients with small ASD's; the latter patients should be followed for longer periods to ensure that no deterioration occurs. The decision as to whether an ASD should be regarded as large or small in our opinion not only should be based on a chosen limit of pulmonary-to-systemic flow ratio, but clinical factors such as diastolic flow murmurs, ECG changes, the heart size, and the pulmonary vascular markings should also be taken into consideration.

Adolescent↗
PubMed2000

Impact of anatomic closure on somatic growth among small, asymptomatic children with secundum atrial septal defect.

We retrospectively identified 92 children aged </=9 years with isolated secundum atrial septal defect (ASD) with preoperative height or weight z score < or =1.0 (16th percentile), respectively. Children with additional cardiac malformations, chromosomal abnormalities, recognized syndromes, pulmonary hypertension, heart failure, prematurity (<34 weeks' gestation), or use of cardiac medications were excluded from further analysis. After exclusion, 24 low-weight and 25 low-height children were compared with 48 and 50 age-, gender-, and size-matched normal controls, respectively. Univariate and multivariate analyses were performed separately for height and weight groups for achieving an end point of improvement in height or weight z score by +0.5 after repair. There were no significant preoperative demographic differences. After repair, 50% of low-weight patients improved +0.5 SD in weight within 2.6 years versus 5.6 years for controls (p = 0.02). Similarly, 50% of low-height patients improved +0.5 SD in height within 1.7 years versus 11.6 years for controls (p <0.001). Multivariate analysis also indicated a benefit of repair with relative risks of 2.35 (95% confidence interval 1.20 to 4.62; p = 0.01) and 5.11 (95% confidence interval 2.45 to 10.65; p <0.0001), respectively, for improving height or weight by +0.5 SD in patients with ASD relative to controls. Furthermore, children heavier at repair were less likely to improve in weight (relative risk 0.56 [0.34, 0.92] per 1.0 z [p = 0.02]). Likewise, children older at repair were less likely to improve in height (relative risk 0.77 [0.64, 0.92] per year of age [p = 0.003]). We conclude that undersized children with ASD exhibit improved growth after repair. Poor growth should be considered a relative indication for early ASD repair.

Body Height↗
PubMed2002

Transcatheter patch correction of secundum atrial septal defects.

The efficacy and safety of the transcatheter patch (TP) correction of a secundum atrial septal defect (ASD) was studied acutely and on short-term follow-up in 20 patients, successfully implanted with the device. TPs are made of polyurethane foam and require temporary balloon catheter immobilization on the atrial septum for 48 hours. Eighteen patients were not suitable for disk-device repair. The patient median age and ASD diameter were 37 years and 26 mm, respectively. Eighteen patients had immediate effective ASD occlusion; 2 patients had significant residual shunts. Premature leaks of the supportive balloons were responsible for the residual shunts. One of the patients with residual shunt received a second patch 6 months later with full occlusion. All patients with implants were doing well up to 24 months after implantation. Existing symptoms improved although residual shunts remained; septal anatomy was normalized, with the patched area becoming progressively indistinguishable from the rest of the septum. In conclusion, TP occlusion of secundum ASD is feasible and effective even for defects unsuitable for disk-device repair. The method appears safe acutely and on short-term follow-up, with symptomatic improvement and normalization of septal anatomy.

Adolescent↗
PubMed2003

Late follow-up of nonoperative closure of secundum atrial septal defects using the King-Mills double-umbrella device.

There has been a marked increase in device closure of secundum atrial septal defects (ASDs) in the last decade. No clinical reports of late results have been forthcoming until now. The purpose of this report was to provide very long-term follow-up of nonoperative closure of secundum ADSs using the King-Mills Umbrella device. ASD closure using this technique did not appear to protect against the known secundum ASD complication of atrial arrhythmia. Twenty-seven-year follow-up of the umbrella ASD closure via the femoral vein shows effective occlusion, absence of device complications, and no reinterventions.

Adolescent↗