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PubMed2004

Hypoplasia of the small pulmonary arteries in hypoplastic left heart syndrome with restrictive atrial septal defect.

BACKGROUND: Restrictive atrial septal defect (ASD) (including intact atrial septum [IAS]) has been reported to be a risk factor that negatively impacts survival in hypoplastic left heart syndrome (HLHS). Although lymphangiectasia and "arterialization" of the veins of the lung in HLHS with restrictive ASD have been reported, they cannot fully explain the high mortality. We have introduced a new method of evaluating the development of the pulmonary vasculature in histological sections and used it to assess patients' lungs. We tested the hypothesis that the small pulmonary arteries (SPA), which are pulmonary arteries in a histological section whose radii are approximately 25 microm to 250 microm, in HLHS with restrictive ASD are hypoplastic, but that the alveoli are not, to elucidate the mechanism underlying the poor outcome of these patients. METHODS AND RESULTS: Fourteen HLHS patients between 1 day and 40 days of age were studied. In 8 cases, the ASD was restrictive [R(+) group], and in the other 6 cases it was not [R(-) group]. Specimens from 12 autopsies of cases with no congenital heart or pulmonary disease were examined as a control group (C group). As a novel histological parameter, we assessed the size of SPA in relation to the size of accompanying bronchioles to identify SPA underdevelopment. To evaluate the development of alveoli and interstitial tissue, radial alveolar counts (RAC), which reflect alveolar maturity and complexity, were also performed. Statistical comparisons between groups were made by analysis of covariance with age as a covariant factor. When the radius of the accompanying bronchiole was 100 microm, the radius of the SPA was 34.0+/-10.8 microm in the R(+) group, and significantly lower than the 46.6+/-8.5 microm in R(-) group (P=0.0022) and 70.5+/-8.4 microm in the C group (P<0.0001). The RAC was in 3.5+/-0.9 in the R(+) group, 3.4+/-0.6 in the R(-) group, and 3.7+/-0.9 in the C group (no significant differences between groups). CONCLUSIONS: The SPA in HLHS with restrictive ASD were underdeveloped compared with the SPA in HLHS with nonrestrictive ASD and the controls, but their alveoli were not hypoplastic. Based on these results, it is speculated that SPA hypoplasia may be responsible for the poor outcome of HLHS with restrictive ASD.

Abnormalities, Multiple↗
PubMed2000

Long-term right ventricular volume overload increases myocardial fluorodeoxyglucose uptake in the interventricular septum in patients with atrial septal defect.

BACKGROUND: Several studies have shown that long-term right ventricular (RV) overload in animal models alters myocardial energy substrate metabolism. However, whether long-term RV volume overload alters this metabolism in the human is unclear. METHODS AND RESULTS: We performed positron emission tomography with [(18)F]fluorodeoxyglucose (FDG) and single-photon emission tomography (SPECT) with [(201)Tl]TlCl (Tl) and [(123)I]15-(p-iodophenyl)-3-R,S-methylpentadecanoic acid (BMIPP) in 11 patients with atrial septal defect (ASD) and 11 control subjects. In the FDG study, we calculated myocardial metabolic rate of glucose (MMR) in interventricular septum (IVS) and left ventricular (LV) free wall. MMR was significantly increased in IVS compared with LV free wall in the ASD patients (420+/-35 versus 333+/-32 mol x kg(-1) x min(-1); P<0.05) but not in the control group (347+/-27 versus 357+/-25 mol x kg(-1) x min(-1)). In both ASD and control groups, SPECT count was not significantly different between IVS and LV free wall in Tl (ASD, 160+/-11 versus 177+/-12; control, 141+/-12 versus 157+/-14 counts per 15 minutes) and BMIPP studies (ASD, 203+/-14 versus 212+/-18; control, 162+/-16 versus 176+/-16 counts per 15 minutes). MMR in the IVS/LV free wall ratio in the ASD group significantly correlated with indices related to RV volume overload. CONCLUSIONS: Given the assumption that long-term RV volume overload did not affect the lumped constant, the present study suggests that, unlike myocardial perfusion or fatty acid analogue uptake, myocardial glucose utilization in IVS relative to LV free wall is increased in relation to long-term RV volume overload in patients with ASD.

Adult↗
PubMed1997

Two- and three-dimensional transesophageal echocardiography in patient selection and assessment of atrial septal defect closure by the new DAS-Angel Wings device: initial clinical experience.

BACKGROUND: Transcatheter closure of atrial septal defects (ASDs) has been feasible and successful. Two-dimensional echocardiography (2DE) was applied to patients before selection and during device deployment. Three-dimensional echocardiography (3DE) can provide unique anatomic perspectives that might aid in improving device closure of ASDs. METHODS AND RESULTS: Twenty-two consecutive patients were enrolled in an initial protocol for ASD device closure by the new DAS-Angel Wings occluder device. On the basis of transesophageal (TEE) 2DE and 3DE, 13 patients were considered eligible for device closure (9 secundum ASDs and 4 with patent foramen ovale associated with a cerebral vascular accident). Maximal ASD diameter and surrounding rim tissues were compared by TEE 2DE and 3DE and with balloon sizing measurements at catheterization. ASD size measured by TEE 2DE and 3DE correlated well (y = 1.0x + 0.049, r = .95), with good limits of agreement. However, balloon-stretched diameter measurements were systematically larger than echocardiographic measurements. Rim tissue measurements correlated well; however, TEE 3DE could demonstrate the entire shape and perimeter of the defect. Two-dimensional imaging provided reliable information during device deployment and for closure of small ASDs. However, 3DE was superior for imaging the device, especially when abnormally placed. CONCLUSIONS: Three-dimensional imaging provides unique images and projections that were essential for understanding the spatial relationship of the device to the atrial septum. Three-dimensional echocardiography significantly enhanced our understanding of two-dimensional images and provided an imaging conceptualization that should aid in future development of device closures.

Echocardiography↗
PubMed1996

Thickening of the carotid wall. A marker for atherosclerosis in the elderly? Cardiovascular Health Study Collaborative Research Group.

BACKGROUND AND PURPOSE: We investigated the relationships between prevalent coronary heart disease (CHD), clinically manifest atherosclerotic disease (ASD), and major established risk factors for atherosclerosis and intima-media thickness (IMT) in the common carotid arteries (CCA) and internal carotid arteries (ICA) separately and in combination in older adults. We wished to determine whether a noninvasive measurement can serve as an indicator of clinically manifest atherosclerotic disease and to determine which of the two variables, CCA IMT or ICA IMT, is a better correlate. METHODS: IMT of the CCA and ICA was measured with duplex ultrasound in 5117 of 5201 individuals enrolled in the Cardiovascular Health Study, a study of the risk factors and the natural history of cardiovascular disease in adults aged 65 years or more. Histories of CHD, peripheral arterial disease, and cerebrovascular disease were obtained during baseline examination. Risk factors included cholesterol levels, cigarette smoking, elevated blood pressure, diabetes, age, and sex. Relationships between risk factors and IMT were studied by multiple regression analysis and canonical variate analysis. Prediction of prevalent CHD and ASD by IMT measurements in CCAs and ICAs were made by logistic regression, adjusting for age and sex. RESULTS: IMT measurements of the CCAs and ICAs were greater in persons with CHD and ASD than those without, even after controlling for sex (P < .001). IMT measurements in the ICA were greater than those in the CCA. Risk factors for ASD accounted for 17% and 18% of the variability in IMT in the CCA and ICA, respectively. These same risk factors accounted for 25% of the variability of a composite measurement consisting of the sum of the ICA IMT and CCA IMT. The ability to predict CHD and ASD was greater for ICA IMT (odds ratio [confidence interval]: 1.36 [1.31 to 1.41] and 1.35 [1.25 to 1.44], respectively) than for CCA IMT (1.09 [1.05 to 1.13] and 1.17 [1.09 to 1.25]). CONCLUSIONS: Whereas CCA IMT is associated with major risk factors for atherosclerosis and existing CHD and ASD in older adults, this association is not as strong as that for ICA IMT. The combination of these measures relates more strongly to existing CHD and ASD and cerebrovascular disease risk factors than either taken alone.

Adult↗
PubMed2005

Alterations of prolyl endopeptidase activity in the plasma of children with autistic spectrum disorders.

BACKGROUND: Prolyl Endopeptidase (PEP, EC 3.4.21.26), a cytosolic endopeptidase, hydrolyses peptide bonds on the carboxyl side of proline residue in proteins with a relatively small molecular weight. It has been shown that altered PEP activity is associated with various psychological diseases such as schizophrenia, mania and depression. Autistic Spectrum Disorders (ASD) are neuropsychiatric and behavioural syndromes affecting social behaviours and communication development. They are classified as developmental disorders. The aim of this study was to examine the hypothesis that PEP activity is also associated with ASDs. METHODS: Fluorometric assay was used to measure PEP activity in EDTA plasma in children with ASD (n = 18) aged 4-12 years (mean +/- SD: 7.9 +/- 2.5). These results were then compared to PEP activity in a control group of non-ASD children (n = 15) aged 2-10 years (mean +/- SD: 6.4 +/- 2.2). RESULTS: An alteration in PEP activity was found in the children with ASD compared to the control group. There was much greater variation of PEP activity in the group of ASD children when compared to the controls (SD= 39.9 and SD 9.6, respectively). This variation was significant (p < 0.0005), although the mean level of PEP activity in the group of ASD children was slightly higher than in the control group (124.4 and 134.1, respectively). CONCLUSION: Our preliminary finding suggests a role for PEP enzyme in the pathophysiology of autism but further research should be conducted to establish its role in the aetiology of psychiatric and neurological disorders, including autism and related spectrum disorders.

Autistic Disorder↗
PubMed2005

Increased serum HO-1 in hemophagocytic syndrome and adult-onset Still's disease: use in the differential diagnosis of hyperferritinemia.

Heme oxygenase-1 (HO-1), an inducible heme-degrading enzyme, is expressed by macrophages and endothelial cells in response to various stresses. Because ferritin synthesis is stimulated by Fe2+, which is a product of heme degradation, we examined the relation between HO-1 and ferritin levels in the serum of patients with hemophagocytic syndrome (HPS), adult-onset Still's disease (ASD), and other diseases that may cause hyperferritinemia. Seven patients with HPS, 10 with ASD, 73 with other rheumatic diseases, 20 with liver diseases, 10 recipients of repeated blood transfusion because of hematological disorders, and 22 healthy volunteers were enrolled. Serum HO-1 and ferritin levels were determined by ELISA. Expression of HO-1 mRNA and protein by peripheral blood mononuclear cells (PBMCs) was determined by real-time PCR and immunocytochemical techniques, respectively. Serum levels of HO-1 were significantly higher in patients with active HPS and ASD than in the other groups (P < 0.01). HO-1 levels were not elevated in patients with other causes of hyperferritinemia but were moderately elevated in patients with dermatomyositis/polymyositis. Among patients with HPS and ASD, serum HO-1 levels correlated closely with serum ferritin levels, and the levels of both returned to normal after therapy had induced remission. Increased expression of HO-1 mRNA was confirmed in PBMCs from some patients with HPS and ASD. Hyperferritinemia correlated closely with increased serum HO-1 in patients with HPS and ASD but not other conditions, indicating that measurement of serum HO-1 and ferritin levels would be useful in the differential diagnosis of hyperferritinemia and perhaps also in monitoring disease activity in HPS and ASD.

Adolescent↗
PubMed2003

Analysis of cell cycle gene expression responding to acetoxyscirpendiol isolated from Paecilomyces tenuipes.

Paecilomyces tenuipes is believed to contain potential oncostatic and tumor-reducing components. Molecular mechanism, however, is poorly understood concerning the potential antitumor components and their biological function. We purified acetoxyscirpendiol (ASD) from methanolic extracts (MPT) of the fungus and tested the two compounds for the molecular profile of their antitumor potential. Using a differential display protocol, cyclin C and Mad-1 were identified as candidate genes responding to MPT. When a quantitative PCR was performed on the total RNA from MCF-7 treated by MPT or ASD, gene expressions of cyclin C and Mad-1 were greatly augmented. In terms of protein expression, cyclin C level increased up to 12 folds in response to ASD as well as MPT. Similar as MPT treatments, ASD-treated cells synthesize cyclin C as 2-4 fold compared to the control treatments. In terms of Mad-1 expression in cells treated with ASD, the level of Mad-1 expression increased up to 2.5 folds by MPT treatment. Cyclin C expression was compared with non-treated cells in various cell lines. MCF-7 cell was shown highly responsive to the MPT or ASD treatment. Taken together, these results strongly indicate that MPT contains potential antitumor components which might exert their action by modulating cell cycle-related genes such as cyclin C and Mad-1 in MCF-7. The major antioncogenic component in MPT may be ASD which modulates cyclin C and Mad-1 expression.

Antineoplastic Agents↗
PubMed2026

Shielding the First 24 Postnatal Months of Life: A Proposal for a Prospective Cohort Study of Early-Life Electromagnetic Exposure and Autism Risk.

BACKGROUND: Autism Spectrum Disorder (ASD) involves Mirror Neuron System (MNS) dysfunction, driving core social and imitative impairments. Systemic physiological alterations such as autonomic dysregulation, mitochondrial dysfunction and neuroinflammation are known to impair synchronization and plasticity of neuronal clusters. A less-evident environmental cofactor, coinciding with rising ASD prevalence, is the considerable world-wide increase in electromagnetic radiation (EMR) overall exposure among children. Experimental evidence shows how low-intensity EMR influences cellular processes, via voltage-gated calcium channels (VGCCs), oxidative stress, and mitochondrial metabolism. The Resonant Convergence framework, allow to predict how chronic EMR exposure during the first 24 postnatal months of life can act as a factor in ASD pathogenesis. The best candidate mechanism is chronic Ion Cyclotron Resonance (ICR) detuning the Ca2+-calmodulin pathway, thus disrupting MNS synchronization. METHODS AND ANALYSIS: A prospective observational pilot cohort study (24-month follow-up) proposes to enroll 1000 full-term newborns into two arms: an EMR-reduced cohort (n = 500, rest and sleep-phase Faraday shielding) and a standard exposure cohort (n = 500). Exposure is quantified via radiofrequency (RF)/extremely low frequency(ELF) measurements, proximity analysis, device inventories and wearable dosimetry. The primary endpoint is a continuous neurodevelopmental trajectory score (joint attention, language, electroencephalogram (EEG) mu-rhythm); binary ASD diagnosis (Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), Autism Diagnostic Interview-Revised (ADI-R)) is a secondary, exploratory endpoint. Moreover, an optional genomic screening will evaluate gene-environment interactions within extremely low-frequency electromagnetic field (ELF-EMF) vulnerable pathways, including ASD-associated genes upregulated by RF via bromodomain and extraterminal protein (BET)-mediated epigenetic mechanisms. Analyses will employ risk ratios, Fisher's exact tests and logistic regression adjusted for confounders; mixed-effects and Bayesian modeling will evaluate longitudinal outcomes and exposure reduction effects. Given a 2-3% baseline prevalence, approximately 20-30 ASD cases are expected. The study is therefore powered for exploratory signal detection rather than definitive causal inference, providing the critical baseline data required to justify and design future confirmatory trials. Sex-stratified modeling will address the 4:1 male-to-female prevalence ratio. ETHICS AND DISSEMINATION: Ethics committee approval is not yet sought; full protocol review and approval will be obtained prior to the study initiation, in strict accordance with the Declaration of Helsinki. Written parental informed consent will be mandatory for all participants prior to enrollment. Study findings and methodological milestones will be disseminated through peer-reviewed international scientific publications. This protocol provides a structured methodological framework for the first prospective investigation of sleep-phase EMR reduction as a potential modulator of ASD incidence during early neurodevelopment. Results will inform adequately powered confirmatory trials in electromagnetic neurodevelopmental epidemiology.

autism spectrum disorder↗
PubMed1993

Aberrant cellular localization of rubella viral genome in patients with adult Still's disease--a pilot study.

The rubella virus (RV) genome was detected using polymerase chain amplification techniques in several peripheral blood cell populations in patients with adult Still's disease (ASD) and normal controls (NC), including mononuclear cells (PBMC), B-cells, T-cells, monocyte/macrophages, and polymorphonuclear leukocytes (PMN). Five of 6 ASD patients and 3 of 6 NC subjects had detectable RV genome. Viral genomic load was significantly higher in ASD than in NC subjects (4.4 fold higher, p = 0.03). Interestingly, a differential cellular distribution of viral genome was observed between ASD and NC individuals. RV genome was detected more frequently in the PBMCs of ASD (5 of 6) patients compared to 2 of 6 NC. The viral genome was more localized to the PMN compartment equally in ASD and in NC subjects. On further cellular analysis, RV genome was detected in B-cells and macrophages but not T-cells in one patient. Existence of a differential viral genomic reservoir between ASD and NC suggests that this may play a role in the pathogenesis of disease manifestations and may reflect the inability to clear latent virus.

Adolescent↗
PubMed2003

Trajectories of posttraumatic stress disorder following myocardial infarction: a prospective study.

BACKGROUND: This study examines the trajectories of posttraumatic stress disorder (PTSD) following myocardial infarction (MI). More specifically, it has 2 aims: (1) to examine whether the trajectory of PTSD is predicted by level of threat and the nature of initial reactions and (2) to examine the associations between the trajectory of PTSD and anxiety, somatization, health-related quality of life, and hospitalization 7 months following MI. METHOD: 116 MI patients were examined twice. At time 1, within a week of the patient's MI, acute stress disorder (ASD) was assessed and medical measures were obtained from patients' hospital records. At time 2, 7 months later, PTSD, anxiety, physical residuals, and health-related quality of life were assessed. Data were gathered in 1999. RESULTS: Six percent of the respondents had both ASD and PTSD, 10% did not have ASD but did have PTSD, and 12% had ASD but not PTSD. The trajectory of PTSD was associated with severity of anxiety, somatic complaints, and health-related quality of life. In addition, while the severity of MI did not predict the trajectory of PTSD, the perceived severity did. Patients without PTSD but with prior ASD did not differ in their initial reactions from those without ASD. CONCLUSION: These findings provide support for the considerable variability in the trajectory of the development of PTSD and suggest that although ASD is associated with subsequent PTSD, the predictive role of initial reactions is limited.

Aged↗
PubMed2000

Partial anomalous pulmonary venous connection draining into superior vena cava--two cases reports.

Anomalous pulmonary venous connection is a relatively common associated anomaly in patients with atrial septal defect (ASD), particularly among those with the sinus venosus type. The incidence of partial anomalous pulmonary venous connection (PAPVC) is higher than 0.7% in the general population and 10% in patients with ASD. In this study, we present two cases with initial impression of ASD, the sinus venosus type in one and the secundum type in the other. The one with the sinus venosus type was found to have a PAPVC that drained into SVC, and the other was suspected of having the same problem because an abnormal shunt was found during cardiac catheterization. This speculation could not be proved, however, due to transesophageal echocardiogram failure. Because we feared the possibility of cardiac defects other than ASD, we performed a minimally invasive operation using a small midline incision instead of the submammary incision and did a full median sternotomy on the patient to look for other complicating coexistent cardiac defects. This patient and the former one were both proven intraoperatively to have a PAPVC that drained into SVC with sinus venosus ASD. The operation to correct an ASD is a rudimentary procedure, and it often becomes a common type of minimally invasive operation among young cardiac surgeons with limited experience. A submammary incision under the impression of simple ASD may meet with certain complications. Therefore, after our experience with the latter case, we do the minimally invasive operation using a small midline incision, which can be easily extended if need be.

Adult↗
PubMed1994

An Unusual Cause of Dyspnea, Hypoxemia and Pedal Edema in an 85-Year-Old Woman.

Atrial septal defect (ASD) is one of the most common causes of congenital heart disease manifested in adulthood. Among the three kinds of ASD, the clinical features of secundum-type ASD have been well-characterized in patients less than 40 years of age, and account for two-thirds of all such defects (sinus venosis and ostium primum are the second- and third-type defects, respectively). More than 90% of patients with a secundum ASD die before the age of 60. However, a subgroup of patients may or may not develop symptoms until late adulthood, presenting with atrial fibrillation, dyspnea and heart failure as the first manifestation of secundum ASD. In the last 30 years, six octogenarians presenting similarly with ASD have been described in the literature. The diagnosis requires a high index of clinical suspicion combined with careful inspection of the electrocardiogram and chest radiograph for signs of right ventricular volume overload. Transthoracic echocardiography and color Doppler interrogation of the atrial septum combined with bubble contrast should confirm the presence of secundum ASD in the majority of elderly patients presenting with this unusual clinical entity.

Journal Article↗
PubMed2000

Secundum atrial septal defects - a review of 75 patients.

Secundum atrial septal defect (ASD) is the most common type of ASD within the spectrum of congenital cardiac abnormalities in children. In this retrospective study the data on 75 patients with a pure secundum ASD were analysed. The male/female ratio was 1:1,3. This is less than the reported male / female ratio, of 1:2. The symptoms most often found were shortness of breath, cough and susceptibility to fatigue. An ejection systolic heart murmur was found in the majority of the patients. A fixed split second heart sound was only found in 49% of patients. This could have been the result of incomplete documentation, inexperienced clinicians, a fast heart rate or the fact that a split second heart sound is not always present in patients with ASDs. On the chest radiograph the majority of patients presented with right ventricular enlargement, right atrial enlargement and increased pulmonary blood flow. A relatively unexpected finding on echocardiography was left atrial enlargement. This is usually caused by volume overload in the presence of large ASDs. Another unexpected finding was the high number of left QRS-axis deviations (10%) and indeterminate QRS-axis deviations, left rotation (7%) present on the electrocardiogram. This finding is much higher than the reported 3.8% of left QRS-axis deviation present in patients with secundum ASDs. The only explanation for this phenomenon is that during the embryological development of the atrial septum, not only does a secundum ASD develop, but the endocardial cushion becomes involved, giving rise to abnormal conductive pathways.

Journal Article↗
PubMed1976

Nonoperative closure of left-to-right shunts.

Efforts to close left-to-right shunts at Ochsner Medical Institutions have been directed toward atrial septal defects (ASD) and patent ductus arteriosus (PDA). PDA's were constructed in dogs by interposing a segment of jugular vein between the aorta and main pulmonary artery. Five dogs in which the PDA was closed by a plug device inserted through the femoral vessels were put to death at 6 to 12 months. Histologic sections showed good fibrous ingrowth with endothelial covering on the aorta and pulmonary artery sides. There were no migrations redidual shunts. At cardiac catherterization, 18 patients had ASD's sized and located as to position in the septum. The sized ranged from 13 to greater than 30 mm. in diameter. The ASD sizes in patients who underwent standard operative closure were compared to the measurements at catheterization, and the variation was insignificant. In 5 patients, centrally positioned secundum ASD's were closed with double umbrella devices, 25 to 35 mm. in diameter. Anatomic contraindications for umbrella closure include ASD's greater than 30mm. in diameter, anomalous pulmonary venous connection, common atrium, inferiorly or superioly located secrumdum ASD, and sinus venosus ASD. Follow-up studies from 6 to 12 months on 5 patients with umbrella closure have revealed no hemolysis, arrhythmias, thromboembolism, migration, or other untoward effects.

Adolescent↗
PubMed2003

[Transcatheter closure of atrial septal defects in 40 pediatric patients].

OBJECTIVE: To evaluate the clinical efficiency of transcatheter closure of atrial septal defect (ASD) with AGA-Amplatzer occlusion device in pediatric patients. METHODS: Forty patients with ASD, 16 males, 24 females, at a mean age of 10.2 years (ranged from 3 to 15 years of age) and with a mean weight of 35.8 kg (ranged from 11 to 87 kg) were studied. Six cases were complicated with pulmonary stenosis (PS), 1 was complicated with ventricular tachycardia (VT). Right heart catheterizations were done in 40 patients for measuring the pressures of right ventricle and pulmonary artery. The balloon diameter of ASD was measured using balloon catheter with guiding wire. The diameter of ASD was measured by TTE and/or TEE, ascertaining the location and size of ASD. Amplatzer occlusion device was sized to be equal to or 1 - 2 mm more than the diameter of balloon stretched. RESULTS: All patients had successful implantation of the Amplatzer device. The success rate was 100%. The diameter measured by TTE was 7 - 30 mm (mean 17.12 mm). The diameter measured by TEE was 7 - 32 mm (mean 18.44 mm). The diameter of balloon stretched of ASD was 8 - 34 mm. Of the 40 cases, 6 were complicated with PS and accepted percutaneous balloon valvuloplasty (PBPV). One case was complicated with VT and accepted radiofrequency catheter ablation (RFCA). Neither complication nor residual shunt was found in any of the patients. The patients were recovered and followed up for 3 or 4 days after deployment of the Amplatzer device. Clinical symptom, cardiac murmur, and findings in ECG, echocardiography and X-ray were improved markedly. CONCLUSION: AGA-Amplatzer occlusion device is safe and efficient in pediatric patients with ASD.

Adolescent↗
PubMed2004

[Atrial septal defect associated with mitral valve prolapse--prevalence and clinical significance].

AIM: High incidence of mitral valve prolapse (MVP) associated with atrial septal defect (ASD) has been reported. The study aimed to evaluate the prevalence, etiology and clinical significance of MVP in patients with ASD. METHODS: Forty-seven consecutive patients with secundum type ASD (30 F; 17 M; mean age: 37.9 +/- 14.0; range: 16-62 years) were enrolled into the study. All patients underwent M-mode and two dimensional echocardiography to check for MVP, defined as the superior systolic displacement of mitral leaflets > or = 2 mm above annulus with coaptation point at, or superior to the annular plane. Pulmonary to systemic flow ratio (Qp/Qs), diastolic right ventricle dimension (RV), left ventricle dimension (LV) and left to right ventricle ratio (LV/RV) were measured. Furthermore, mitral and tricuspid valve insufficiency and right ventricle systolic pressure (RVSP) were evaluated. A symptom-limited, incremental exercise test (CPX)--modo Bruce on Marquette 2000 Treadmill was performed in every patient. We determined: time of exercise--Time (min), peak oxygen uptake--VO2peak (ml/kg/min), VO2peak expressed as % of predicted value--VO2% and anaerobic threshold--AT (expressed as % VO2 max). The study population was divided into two groups: Group I--patients with ASD and MVP and Group II--patients with ASD without MVP. RESULTS: MVP was recognized in 17 patients (36%); anterior MVP was found in 14, two cases revealed posterior MVP and one was diagnosed with both anterior and posterior MVP. MVP was not associated with significant mitral regurgitation. Echocardiographic and CPX data are summarized in table I. There were no significant differences in age, RVSP, RV and LV diastolic dimensions between groups, although Qp/Qs was significantly higher (p=0.01) and LV/RV significantly lower (p=0.02) in the MVP group. Moreover, there was a significant negative correlation between Qp/Qs and LV/RV ratio (r=-0.70; p<0.001) in a study group. No significant difference in time of exercise, VO2peak, VO2%, and AT was observed between respective groups. CONCLUSIONS: Our data support the thesis that MVP associated with secundum ASD is a functional disorder due to the atrial shunt and leftward shift of interventricular septum. MVP does not affect cardiopulmonary capacity in ASD patients.

Adolescent↗
PubMedDate not supplied

[Best practice guidelines for the early detection of Autistic Spectrum Disorders (I)].

INTRODUCTION: The interest in early detection of Autism Spectrum Disorders (ASD) lies in the accumulated evidence of the fact that an early customized intervention for children with an ASD and their families leads to an improvement of the child's prognosis in most cases. OBJECTIVE: To establish criteria and procedures for early identification of children at risk of ASD and to facilitate full diagnostic assessment and prompt referral leading to adequate support. Early detection of ASD is extremely important, since early specific individualized treatment for the child and his or her family leads to long-term improvement in many children' prognosis. DEVELOPMENT: Firstly, a critical appraisal of the situation of early detection of ASD in Spain is made after reviewing the scarce bibliography available on current screening and diagnostic practices in the country. Data generated by questionnaires received from 646 Spanish families is also taken into account. Secondly, the Study Group of the Instituto de Salud Carlos III recommends the screening and early diagnosis process to be followed, describing the necessary steps, the public services involved and the available screening and diagnostic tools. CONCLUSIONS: The Study Group draws the main conclusions regarding the situation of ASD early detection in Spain, and makes a consensus proposal for the detection procedures, including routine developmental surveillance and identification of children at risk for ASD by using sensitive and specific assessment tools.

Child↗
PubMedDate not supplied

[Secundum atrial septal defect in newborns of diabetic mothers].

AIM: To evaluate in own material the incidence of secundum atrial septal defect type fossa ovalis (ASD II) with signs of cardio-respiratory maladaptation in infants of diabetic mothers (IDM) during the first 48 hours of life, and subsequent echocardiography follow-up of babies with ASD II during the first year of life. MATERIAL AND METHODS: In the period from September 2002 to March 2003 a total of 502 neonates were born and 62 number them were from diabetic mothers. Echocardiography scanning was performed in a group of 49 neonates (42 IDM and 7 full-term infants of healthy mothers) with signs of cardio-respiratory maladaptation during the first 48 hours of life. Six neonates were born from pregestational diabetes mothers and 36 from gestational diabetes mothers (G1-17, G2-19), Birth weight of the newborns were in the range from 1370 to 4450 g, and gestational age was in the range between 30 to 41, mean 38.6 weeks. Apgar score was > 7 in 91.8% of neonates. In the whole study besides laboratory tests in direction of early onset infection, brain ultrasound and echocardiography scanning were performed. M-mode, 2-D presentation and Doppler blood flow velocity were done 4 times during the first year of life (in 2nd, 4th and 12th month). RESULTS: ASD II with 2 to 9 mm diameter was diagnosed in 20 (40.8%) of the examined neonates. Among them 16 were IDM and 4 from healthy mothers. There was no statistically significant difference in the frequency of ASD II recognition in accordance with type of maternal diabetes. During subsequent echocardiography scanning, spontaneous closure of ASD II was found in 11 (55.0%) babies at the age of 12 months. In the remaining 9 (45.0%) infants a decrease in ASD II was notices in 6 (30.0%) cases and the same diameter of arterial defect was left in 3 (15.0%). CONCLUSION: In 38.1% of neonates born to diabetic mothers, cardio-respiratory disturbances during the first 48 hours of life were accompanied by secundum atrial septal defect. During 12 months follow-up with echocardiography evaluation, decrease in diameter or spontaneous closure o ASD II occurred in most of our patients.

Comorbidity↗