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At least 1,117 records · Page 62Linked to original sources
PubMed2005

Long-term outcome of transcatheter secundum-type atrial septal defect closure using Amplatzer septal occluders.

OBJECTIVES: The aim of this study was to assess long-term results of percutaneous closure of secundum-type atrial septal defect (ASD II) using Amplatzer septal occluders (ASO). BACKGROUND: Only immediate-, short-, and intermediate-term results of ASO implantation are known so far. METHODS: Between September 1995 and January 2000, 151 patients underwent a successful percutaneous closure of ASD II in our institution. All were included in the present study and were followed up until September 2004. RESULTS: This group of patients was followed up from 56 to 108 months (median 78 months). The mean stretched defect diameter was 15.9 +/- 4.8 mm. There were no deaths or significant complications during the study. At three years of follow-up, all defects were completely closed and remained closed thereafter. CONCLUSIONS: Since the first human implantations in September 1995, the Amplatzer septal occluder proved as a safe and effective device for percutaneous closure of ASD II.

Cardiac Catheterization↗
PubMedDate not supplied

Degenerative changes following spinal fixation in a small animal model.

OBJECTIVE: The objective of this study was to evaluate changes of the lumbar vertebral column following fixation. DESIGN: Using an established small animal (rat) model of spinal fixation (hypomobility), 3 contiguous lumbar segments (L4, L5, L6) were fixed with a specially engineered vertebral fixation device. Spinal segments of control rats were compared with those of animals with 1, 4, or 8 weeks of fixation. Subgroups of these fixation animals subsequently had the fixation device removed for 1, 2, 4, 8, or 12 weeks to evaluate the effects of attempting to reestablish normal forces to the vertebral segments following hypomobility. SETTING: This Institutional Animal Care and Use Committee (IACUC) approved study was conducted in a university animal facility. ANIMALS: Eighty-seven animals (23 controls animals and 64 fixation animals) were used in this study. Main Outcome Measures Outcome measures were degenerative changes of the vertebral bodies (VBs) and intervertebral disks (IVDs), zygapophysial (Z) joint osteophyte formation, and Z joint articular surface degeneration (ASD). Changes found in vertebral segments that were fixed (hypomobile) were compared with changes in adjacent nonfixed vertebral segments, and changes among fixation animals were compared with nonfixed controls. Main Results Very few degenerative changes were identified on the VBs and IVDs. Z joint changes were significant, both for osteophyte formation (analysis of variance [ANOVA], P <.0001) and ASD (ANOVA, P <.0001). Fixed segments had more degenerative changes than nonfixed segments for all Z joint parameters (ANOVA, P <.0001). Osteophyte formation and ASD were directly dependent on duration of fixation. CONCLUSIONS: These findings indicate that fixation (hypomobility) results in time-dependent degenerative changes of the Z joints.

Analysis of Variance↗
PubMed2006

Subdural haematomas complicating insertion of the low-pressure Novus hydrocephalus valve: a simple method for intra-operative testing of the anti-siphon device.

We previously reported 52 patients with hydrocephalus who were followed up after insertion of low-pressure Novus valves. These valves have a normally open anti-siphon device (ASD) incorporated. There were no cases of subdural haematomas (SDH). Subsequently, three new patients suffered SDH after insertion of these valves. We investigated a simple method for intra-operative testing of the ASD. These new patients had their valves replaced. In the laboratory, flow rates through five valves were recorded as a function of proximal positive pressure and distal negative pressures (siphoning). The flow rates were influenced by both proximal positive and distal negative pressures. The ASD stopped flow at distal negative pressures between -40 and -60 cm H(2)O. Proximal positive pressures increased this threshold. The flow can be measured by counting drops per minute. Three valves removed from patients were functioning as expected, one had unexpectedly slow flow at very high siphoning pressure and one had unexpectedly slow flow rates. In three patients with SDH complicating low-pressure Novus valves, the valves and anti-siphon devices were functioning adequately. Using a simple device, measuring flow rates in drops per minute was reliable and reproducible.

Cerebrospinal Fluid Shunts↗
PubMed2004

Chronic pain in individuals with previously undiagnosed autistic spectrum disorders.

UNLABELLED: The aim of this article is to heighten clinician awareness by describing 2 patients with signs and symptoms of a possible autistic disorder. Autistic spectrum disorders are neurodevelopmental disorders characterized by impairment in reciprocal social interaction skills or communication skills and/or by the presence of stereotyped behavior, interests, and activities. Pain can be the initial presenting symptom for individuals with a previously undiagnosed autistic spectrum disorder. Two case presentations show indicators, such as reported sensory abnormalities, impaired social behaviors, and unusual interests, that should lead the physician to consider a referral for further evaluation. An accurate diagnosis of autism or related disorder can lead to a greater understanding of the nature of the patient's pain, as well as to more appropriate and effective treatment strategies. In addition, such patients might benefit from therapeutic interventions to improve overall functioning and decrease distress and, consequently, to decrease pain and other symptoms. Finally, autism research might inform pain researchers on topics such as neurobiology, development, and treatment of chronic pain disorders. PERSPECTIVE: Pain experts might be underrecognizing signs and symptoms of autistic spectrum disorders (ASDs) in their patients. Clinical evaluation for ASDs should be considered in patients with specific unusual characteristics. Research on the topic of ASDs and pain is encouraged.

Adolescent↗
PubMed2026

Gene-environment interaction between perinatal oxytocin exposure and Pten mutation shapes epigenetic reprogramming of oxytocin signaling and behavior in mice.

Synthetic oxytocin (Pitocin) is the most commonly used pharmacologic agent for induction and augmentation of labor. Beyond its uterotonic effects, oxytocin plays a critical role in neurodevelopment and social behavior. Dysregulated oxytocin signaling has been implicated in autism spectrum disorder (ASD), raising concern that perinatal exposure to exogenous oxytocin may have lasting neurodevelopmental consequences. This study aimed to determine whether offspring harboring a genetic predisposition for ASD are differentially impacted by perinatal oxytocin exposures, with a focus on long-term oxytocin signaling and autism-like behavior. Pregnant mice carrying offspring with heterozygous mutations in phosphatase and tensin homolog deleted on chromosome ten (Pten), a well-established monogenic risk factor for ASD, received continuous oxytocin versus phosphate-buffered saline (PBS) control via micro-osmotic pumps during late gestation. Wild-type (WT) offspring exposed to each treatment served as a secondary control. Adult offspring were assessed for oxytocin receptor (Oxtr) methylation in the frontal cortex and hippocampus, oxytocin expression in the hypothalamus, serum oxytocin levels, and were subject to a battery of social and anxiety-related behavior tests. Perinatal oxytocin exposure produced genotype-dependent effects in offspring. Epigenetic analyses revealed bidirectional remodeling of Oxtr methylation in the frontal cortex and hippocampus, with increased exon 1 methylation in WT mice and decreased methylation in Pten-mutant mice, resulting in significant genotype-treatment interactions. Hypothalamic oxytocin expression increased following treatment regardless of genotype, though baseline levels were higher in Pten-mutant mice. Neither oxytocin treatment nor genotype impacted long-term serum oxytocin levels. Behavioral outcomes were modest but context-specific: repetitive behaviors and cognition performance were unchanged, but oxytocin-treated Pten-mutant mice exhibited increased anxiety-like behavior alongside improved social memory. In contrast, oxytocin-treated WT mice showed reduced social novelty preference. Exploratory analyses suggested potential sex-dependent trends. Our findings support a model in which genetic susceptibility shapes the epigenetic encoding of early-life hormonal signals, thereby recalibrating oxytocin system function and downstream behavioral outcomes. Together, these data highlight the context-dependent effects of perinatal oxytocin exposure and argue against uniformly beneficial or detrimental effects, emphasizing the importance of gene-environment interactions in neurodevelopmental trajectories.

Animals↗
PubMed2005

Adjacent level degeneration after anterior cervical fusion: a clinical review.

Anterior cervical discectomy and corpectomy for the treatment of cervical spondylosis,cervical disc herniation, and ossification of the posterior longitudinal ligament enjoy favorable rates of fusion and successful clinical outcomes. Although the complications from these procedures have been well described, the pathogenesis and clinical development of adjacent segment degeneration (ASD) are not fully understood. The definition of symptomatic ASD is the development of radicular or myelopathic signs and symptoms referable to a motion segment adjacent to prior cervical arthrodesis. The incidence, pathogenesis, prevalence, and potential treatment strategies for symptomatic ASD are discussed in this article.

Cervical Vertebrae↗
PubMed2006

Autism and environmental genomics.

Autism spectrum disorders (ASD) are defined by behavior and diagnosed by clinical history and observation but have no biomarkers and are presumably, etiologically and biologically heterogeneous. Given brain abnormalities and high monozygotic concordance, ASDs have been framed as neurobiologically based and highly genetic, which has shaped the research agenda and in particular criteria for choosing candidate ASD genes. Genetic studies to date have not uncovered genes of strong effect, but a move toward "genetic complexity" at the neurobiological level may not suffice, as evidence of systemic abnormalities (e.g. gastrointestinal and immune), increasing rates and less than 100% monozygotic concordance support a more inclusive reframing of autism as a multisystem disorder with genetic influence and environmental contributors. We review this evidence and also use a bioinformatic approach to explore the possibility that "environmentally responsive genes" not specifically associated with the nervous system, but potentially associated with systemic changes in autism, have not hitherto received sufficient attention in autism genetics investigations. We overlapped genes from NIEHS Environmental Genome Project, the Comparative Toxicogenomics Database, and the SeattleSNPs database of genes relevant to the human immune and inflammatory response with linkage regions identified in published autism genome scans. We identified 135 genes in overlap regions, of which 56 had never previously been studied in relation to autism and 47 had functional SNPs (in coding regions). Both our review and the bioinformatics exercise support the expansion of criteria for evaluating the relevance of genes to autism risk to include genes related to systemic impact and environmental responsiveness. This review also suggests the utility of environmental genomic resources in highlighting the potential relevance of particular genes within linkage regions. Environmental responsiveness and systems impacts consistent with system-wide findings in autism are thus supported as important considerations in identifying the numerous and complex modes of gene-environment interaction in autism.

Animals↗
PubMed2005

Vagaries of visual perception in autism.

Three classes of perceptual phenomena have repeatedly been associated with autism spectrum disorder (ASD): superior processing of fine detail (local structure), either inferior processing of overall/global structure or an ability to ignore disruptive global/contextual information, and impaired motion perception. This review evaluates the quality of the evidence bearing on these three phenomena. We argue that while superior local processing has been robustly demonstrated, conclusions about global processing cannot be definitively drawn from the experiments to date, which have generally not precluded observers using more local cues. Perception of moving stimuli is impaired in ASD, but explanations in terms of magnocellular/dorsal deficits do not appear to be sufficient. We suggest that abnormalities in the superior temporal sulcus (STS) may provide a neural basis for the range of motion-processing deficits observed in ASD, including biological motion perception. Such an explanation may also provide a link between perceptual abnormalities and specific deficits in social cognition associated with autism.

Autistic Disorder↗
PubMed2006

Pten regulates neuronal arborization and social interaction in mice.

CNS deletion of Pten in the mouse has revealed its roles in controlling cell size and number, thus providing compelling etiology for macrocephaly and Lhermitte-Duclos disease. PTEN mutations in individuals with autism spectrum disorders (ASD) have also been reported, although a causal link between PTEN and ASD remains unclear. In the present study, we deleted Pten in limited differentiated neuronal populations in the cerebral cortex and hippocampus of mice. Resulting mutant mice showed abnormal social interaction and exaggerated responses to sensory stimuli. We observed macrocephaly and neuronal hypertrophy, including hypertrophic and ectopic dendrites and axonal tracts with increased synapses. This abnormal morphology was associated with activation of the Akt/mTor/S6k pathway and inactivation of Gsk3beta. Thus, our data suggest that abnormal activation of the PI3K/AKT pathway in specific neuronal populations can underlie macrocephaly and behavioral abnormalities reminiscent of certain features of human ASD.

Animals↗
PubMed2004

Abnormal global processing along the dorsal visual pathway in autism: a possible mechanism for weak visuospatial coherence?

Frith and Happe (Frith, U., & Happe, F. (1994). Autism: Beyond theory of mind. Cognition, 50, 115-132) argue that individuals with autism exhibit 'weak central coherence': an inability to integrate elements of information into coherent wholes. Some authors have speculated that a high-level impairment might be present in the dorsal visual pathway in autism, and furthermore, that this might account for weak central coherence, at least at the visuospatial level. We assessed the integrity of the dorsal visual pathway in children diagnosed with an autism spectrum disorder (ASD), and in typically developing children, using two visual tasks, one examining functioning at higher levels of the dorsal cortical stream (Global Dot Motion (GDM)), and the other assessing lower-level dorsal stream functioning (Flicker Contrast Sensitivity (FCS)). Central coherence was tested using the Children's Embedded Figures Test (CEFT). Relative to the typically developing children, the children with ASD had shorter CEFT latencies and higher GDM thresholds but equivalent FCS thresholds. Additionally, CEFT latencies were inversely related to GDM thresholds in the ASD group. These outcomes indicate that the elevated global motion thresholds in autism are the result of high-level impairments in dorsal cortical regions. Weak visuospatial coherence in autism may be in the form of abnormal cooperative mechanisms in extra-striate cortical areas, which might contribute to differential performance when processing stimuli as Gestalts, including both dynamic (i.e., global motion perception) and static (i.e., disembedding performance) stimuli.

Autistic Disorder↗
PubMed2006

Executive processes in Asperger syndrome: patterns of performance in a multiple case series.

Mixed evidence exists for executive dysfunction in autism spectrum disorders (ASD). This may be because of the nature of the tasks used, the heterogeneity of participants, and difficulties with recruiting appropriate control groups. A comprehensive battery of 'executive' tests was administered to 22 individuals with Asperger syndrome and 22 well-matched controls. Performance was analysed both between groups and on an individual basis to identify outliers in both the ASD and control groups. There were no differences between the groups on all 'classical' tests of executive function. However, differences were found on newer tests of executive function. Specifically, deficits in planning, abstract problem solving and especially multitasking. On the tests that discriminated the groups, all of the ASD individuals except one were identified as significantly impaired (i.e. below the 5th percentile of the control mean) on at least one executive measure. This study provides evidence for significant executive dysfunction in Asperger syndrome. Greatest dysfunction appeared in response initiation and intentionality at the highest level--the ability to engage and disengage actions in the service of overarching goals. These deficits are best observed through using more recent, ecologically valid tests of executive dysfunction. Moreover, performance on these measures correlated with autistic symptomatology.

Adolescent↗
PubMed2004

Cloning, characterization and heterologous expression of the aspartokinase and aspartate semialdehyde dehydrogenase genes of cephamycin C-producer Streptomyces clavuligerus.

Carbon flow through the lysine branch of the aspartate biosynthetic pathway is a rate-limiting step in the formation of cephamycin C, a broad spectrum beta-lactam antibiotic produced by Streptomyces clavuligerus. In this study, genes which encode the enzymes catalyzing the first two steps of the aspartate pathway, ask (aspartokinase) and asd (aspartate semialdehyde dehydrogenase), in S. clavuligerus NRRL 3585 were cloned and sequenced. Nucleotide sequencing and codon preference analysis revealed three complete open reading frames (ORFs). ORF2 starts within ORF1 and terminates by utilizing the same stop codon as ORF1, an arrangement typical of many ask genes. ORF3 is located 2 nucleotides downstream of ORF1,2. Database comparisons with these proteins identified ORF1 as the large (alpha) subunit of aspartokinase, ORF2 as the small (beta) subunit of aspartokinase and ORF3 as the aspartate semialdehyde dehydrogenase. The cloned genes were functionally expressed in auxotrophic Escherichia coli strains, CGSC5074 (ask(-)) and E. coli CGSC5080 (asd(-)), the two enzymes were partially purified from E. coli cell extracts and their kinetic parameters were determined. The effects of end product amino acids and diaminopimelic acid on the activity of Ask and Asd enzymes were also described.

Aspartate Kinase↗
PubMed2006

Episodic memory in adults with autistic spectrum disorders: recall for self- versus other-experienced events.

People with autistic spectrum disorders (ASD) have difficulties in recalling recently experienced events, which is dependent upon intact functioning of several aspects of 'self awareness'. The current study examined impaired episodic recall in ASD and its relationship to specific impairments in aspects of 'self awareness'. Between-group (participants with learning disabilities with and without autistic spectrum disorder) experimental design examining free and cued recall of table-top activities that were either self-experienced by participants or observed being performed by the experimenter. Participants with ASD did not show superiority of free recall for self-experienced events over observed events, nor for recall of other-experienced events over self-experienced events, but did demonstrate a superiority for cued recall of self-experienced events. The implications for theory and practice are discussed.

Adult↗
PubMed2006

Assessing challenging behaviors in children with autism spectrum disorders: a review.

A common covarying group of behaviors with ASD are self-injury, aggression, noncompliance, and stereotypies. These problems and related challenging behaviors are problematic in that they are physically dangerous and can impede learning and access to normal activities. Additionally, they require a considerable amount of resources, and compound the difficulty in treating core ASD symptoms. Despite the high profile challenging behaviors present in this population, there has not been a great deal of research regarding assessment, identification, and monitoring of such difficulties. This review covers available empirical based methods for assessing these behaviors. A discussion is provided of potential avenues for future research and clinical practice which is urgently needed for ASD children at this time.

Autistic Disorder↗
PubMed2005

Characteristics of glycemic control in elite power and endurance athletes.

A previous study has shown that former elite power athletes exhibited significantly greater relative risk in diabetes than that of former elite endurance athletes. It is unknown whether insulin sensitivity in elite young healthy power athletes is lower than that in elite young endurance athletes. This study includes two parts, part I and part II. In the part I of this study, an oral glucose tolerance test was performed in all of the elite juvenile track athlete subjects, specializing either in short-distance racing (jSD, N = 13, aged 12.5 +/- 0.37 years) or in long-distance racing (jLD, N = 13, aged 12.6 +/- 0.42 years). In the part II of this study, we recruited elite adult swimmers and divided them into two groups according to their specialty in swimming race distance: long-distance (aLD, N = 10, age 20.3 +/- 1.32) and short-distance groups (aSD, N = 10, age 20.2 +/- 1.31). Insulin sensitivity was significantly lower in the jSD group than that in the jLD group, as indicated by the area under the curves of insulin and glucose following a 75-g oral glucose load. Fasting plasma LDL-C and total cholesterol levels in the jSD group were significantly greater than those in the jLD group. The result of the part II of this study, similar to the result of the part I, shows that insulin sensitivity in aSD swimmers was significantly lower than that in aLD swimmers. LDL-C, total cholesterol, and triglyceride levels were also found higher in aSD swimmers than in those of aLD swimmers. These new findings implicate that the genetic makeup associated with exceptional power or endurance performance of elite athletes could also reflect on their metabolic characteristics; elite power athletes appear to be more insulin resistant than elite endurance athletes.

Adult↗
PubMed1976

Development of mitral insufficiency following closure of ostium secundum atrial-septal defect.

The development of severe mitral insufficiency after a successful closure of an ostium secundum ASD was encountered in four adult patients. This acquired postoperative lesion appeared nine years, three and a half years, two year, and two months following ASD repair. It was associated with deterioration of the excellent clinical improvement following closure of ASD, and was detected clinically by the appearance of a new apical holosystolic murmur. In one patient, pathologic examination of the mitral valve indicates insufficiency to be possibly due to rheumatic valvulitis. The cause of mitral insufficiency in the other patients is not clear. Multiple etiologies could be responsible for this unusual association.

Adult↗
PubMed2001

Aerobic capacity in adults with various congenital heart diseases.

As an increasing number of patients with congenital heart disease reach adulthood, more information is needed regarding outcomes. The first signs of impaired heart function may appear during exercise testing. The aim of the present study was to establish mean values for maximal oxygen uptake in adults with various congenital heart diseases. Patients from 6 major diagnostic groups were identified, including patients with atrial septal defect (ASD, n = 93), transposition of the great arteries corrected with the Mustard procedure (n = 84), congenitally corrected transposition of the great arteries (CCTGA, n = 41), Tetralogy of Fallot (n = 168), Ebstein's anomaly (n = 37), and Modified Fontan procedure (n = 52). Diminished maximal oxygen uptake was found in all diagnostic groups across age compared with healthy subjects. A significant decrease in maximal oxygen uptake with aging was found in those with ASD (p <0.0001), CCTGA (p = 0.01), and Tetralogy of Fallot (p <0.0001). There was no significant decline, however, in Ebstein's anomaly (p = 0.270), Fontan procedure (p = 0.182), and in the Mustard patients (p = 0.188). All patients achieved significantly lower heart rates than predicted (mean for all groups, p <0.0001). Forced vital capacity values (3.51 L, mean SD +/- 1.02) were lower than predicted values (4.10 L, mean SD +/- 0.90, p <0.0001) for all patients groups except those with ASD. Mean values, however, were within the accepted 20% range of variance. This study showed diminished aerobic capacity in all diagnostic groups when compared with a healthy population. The maximal oxygen uptake values across age groups can be used as reference values in patients with similar diagnoses and as the basis for further research.

Adolescent↗
PubMed2001

Immediate and six-month results of the profile of the Amplatzer septal occluder as assessed by transesophageal echocardiography.

Catheter closure of secundum atrial septal defect (ASD) using the Amplatzer septal occluder (ASO) is a potential alternative for open surgical repair. However, the large profile of the device obtained immediately after closure continues to raise some concerns regarding its long-term safety. To evaluate the changes in the profile of the device after being deployed, transesophageal echocardiography was performed in 70 patients (17 men and 53 women) who underwent catheter closure of ASDs immediately after and at 6-month follow-up. The median age at closure was 16 years (range 1.9 to 75) and the median size of the ASD as assessed by transesophageal echocardiography was 14 mm (range 3 to 25). The thickness (profile) of the device was assessed in the 4-chamber, short- and long-axis views of the interatrial septum, and measured at its middle and at the junction of the waist with the disc at its 2 ends. Seventy-three devices were deployed in the 70 patients. The median size of the device was 19 mm (range 8 to 34). Complete closure was achieved in 81.4% and 91.4% immediately after and at 6-months follow-up, respectively. The thickness of the device at its middle decreased from 12.2 +/- 4.3, 12.2 +/- 3.7, and 12.5 +/- 4.3 mm in the 4-chamber, short- and long-axis views to 6.5 +/- 2.0, 6.3 +/- 1.9, and 6.5 +/- 2.2 mm, respectively. The thickness of the device at its superior, inferior, anterior, and posterior edges also decreased by 41.8% +/- 14.0% to 43.7% +/- 9.8%. The changes in the thickness were related to device size. Larger devices were thicker after being deployed. We conclude that the thickness of the ASO decreases by 42% to 48% within 6 months after deployment, resulting in a lower profile.

Adolescent↗