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PubMed2005

High rates of acute stress disorder impact quality-of-life outcomes in injured adolescents: mechanism and gender predict acute stress disorder risk.

BACKGROUND: Injury is the leading cause of death and functional disability in adolescent children. Little is known about quality of life and psychological outcomes after trauma in adolescents. The Trauma Recovery Project in Adolescents is a prospective epidemiologic study designed to examine multiple outcomes after major trauma in adolescents aged 12 to 19 years, including quality of life (QoL) and psychological sequelae such as acute stress disorder (ASD) and posttraumatic stress disorder (PTSD). The specific objectives of the present report are to examine ASD rates and the association of ASD with QoL outcomes in injured adolescents. METHODS: Between April 26, 1999, and November 13, 2002, 401 eligible trauma patients aged 12 to 19 years triaged to five participating trauma center hospitals in a regionalized trauma system were enrolled in the study. The admission criteria for patients were as follows: (1) age 12 to 19 years and (2) injury diagnoses excluding severe traumatic brain injury (TBI) or spinal cord injury. QoL after trauma was measured using the Quality of Well-being (QWB) scale, a sensitive and well-validated functional index (range, 0 = death to 1.000 = optimum functioning). ASD (before discharge) was diagnosed with the Impact of Events Scale-Revised. Scores of 24+ were used to diagnose ASD. Patient outcomes were assessed at discharge and at 3, 6, 12, 18, and 24 months after discharge. RESULTS: ASD before discharge was diagnosed in 40% of adolescent trauma survivors. ASD status was associated with large QoL deficits during follow-up, as follows: 3-month, ASD-positive QWB score = 0.667 vs. ASD-negative QWB score = 0.710, p < 0.01; 6-month, ASD-positive QWB score = 0.704 vs. ASD-negative QWB score = 0.742, p < 0.001; 12-month: ASD-positive QWB score = 0.718 vs. ASD-negative QWB score = 0.757, p < 0.01; 24-month, ASD-positive QWB score = 0.725 vs. ASD-negative QWB score = 0.769, p < 0.01. Female sex and violent mechanism predicted ASD risk (47% female vs. 36% male; odds ratio, 1.6; p < 0.05; violence 54% vs. 38%; odds ratio, 1.9; p < 0.01). CONCLUSIONS: Adolescent trauma survivors have high rates of ASD. ASD severely impacts QoL outcomes and is associated with female sex and mechanism of injury in adolescents. Early recognition and treatment of ASD in seriously injured adolescents will improve QoL outcomes.

Adolescent↗
PubMed2025

Prematurity and Genetic Liability for Autism Spectrum Disorder.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by diverse presentations and a strong genetic component. Environmental factors, such as prematurity, have also been linked to increased liability for ASD, though the interaction between genetic predisposition and prematurity remains unclear. This study aims to investigate the impact of genetic liability and preterm birth on ASD conditions. METHODS: We analyzed phenotype and genetic data from two large ASD cohorts, the Simons Foundation Powering Autism Research for Knowledge (SPARK) and Simons Simplex Collection (SSC), encompassing 78,559 individuals for phenotype analysis, 12,519 individuals with genome sequencing data, and 8,104 individuals with exome sequencing data. Statistical significance of differences in clinical measures was evaluated between individuals with different ASD and preterm status. We assessed the rare variants burden using generalized estimating equations (GEE) models and polygenic load using ASD-associated polygenic risk score (PRS). Furthermore, we developed a machine learning model to predict ASD in preterm children using phenotype and genetic features available at birth. RESULTS: Individuals with both preterm birth and ASD exhibit more severe phenotypic outcomes despite similar levels of genetic liability for ASD across the term and preterm groups. Notably, preterm ASD individuals showed an elevated rate of de novo variants identified in exome sequencing (GEE model, p=0.005) in comparison to the non-ASD preterm group. Additionally, a GEE model showed that a higher ASD PRS, preterm birth, and male sex were positively associated with a higher predicted probability for ASD, reaching a probability close to 90% in SPARK. Lastly, we developed a machine learning model using phenotype and genetic features available at birth with limited predictive power (AUROC = 0.65). CONCLUSIONS: Preterm birth may exacerbate the multimorbidity present in ASD, which was not due to the ASD genetic factors. However, increased genetic factors may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. We propose that incorporating genetic assessment into neonatal care could benefit early ASD identification and intervention for preterm infants.

Autism Spectrum Disorder↗
PubMed2005

Asian sand dust enhances ovalbumin-induced eosinophil recruitment in the alveoli and airway of mice.

Asian sand dust (ASD) containing sulfate (SO4(2-)) reportedly causes adverse respiratory health effects but there is no experimental study showing the effect of ASD toward allergic respiratory diseases. The effects of ASD and ASD plus SO4(2-) toward allergic lung inflammation induced by ovalbumin (OVA) were investigated in this study. ICR mice were administered intratracheally with saline; ASD alone (sample from Shapotou desert); and ASD plus SO4(2-) (ASD-SO4); OVA+ASD; OVA+ASD-SO4. ASD or ASD-SO4 alone caused mild nutrophilic inflammation in the bronchi and alveoli. ASD and ASD-SO4 increased pro-inflammatory mediators, such as Keratinocyte chemoattractant (KC) and macrophage inflammatory protein (MIP)-1 alpha, in bronchoalveolar lavage fluids (BALF). ASD and ASD-SO4 enhanced eosinophil recruitment induced by OVA in the alveoli and in the submucosa of the airway, which has a goblet cell proliferation in the bronchial epithelium. However, a further increase of eosinophils by addition of SO4(2-) was not observed. The two sand dusts synergistically increased interleukin-5 (IL-5) and monocyte chemotactic protein-1 (MCP-1), which were associated with OVA, in BALF. However, the increased levels of IL-5 were lower in the OVA+ASD-SO4 group than in the OVA+ASD group. ASD caused the adjuvant effects to specific-IgG1 production by OVA, but not to specific-IgE. These results suggest that the enhancement of eosinophil recruitment in the lung is mediated by synergistically increased IL-5 and MCP-1. IgG1 antibodies may play an important role in the enhancement of allergic reaction caused by OVA and sand dust. However, extra sulfate may not contribute to an increase of eosinophils.

Animals↗
PubMed1982

[Echocardiographic study on systolic left ventricular posterior wall motion in patient with atrial septal defect].

Systolic motion of the left ventricular posterior wall (LVPW) was studied by M-mode and long-axis two-dimensional echocardiography in 35 patients (pts) with secundum type of atrial septal defect (ASD), comparing with that of 19 surgically closed ASD (post ASD), 27 with hypertrophic cardiomyopathy (HCM), 15 with old anteroseptal myocardial infarction (a-s MI) and 28 normal subjects. The results obtained were as follows: 1) Excursion of LVPW (PWE) was significantly increased in the pts with ASD compared with normal subjects (P less than 0.001), but there was no significant difference in PWE between the pts with ASD and the pts with HCM or a-s MI. 2) Mean systolic posterior wall velocity (MPWVs) was significantly decreased in the pts with ASD compared with the pts with HCM (p less than 0.05). However, no significant difference could be found in MPWVs between the pts with ASD and a-s MI or normal subjects. 3) End-systolic thickening of LVPW was significantly increased in the pts with ASD compared with normal subjects (p less than 0.05), the pts with a-s MI (p less than 0.05) and the pts with post ASD (p less than 0.01), except for the pts with HCM. There was a significant difference in % end-systolic thickness of lVPW between the pts with ASD and the pts with a-s MI or post ASD (p less than 0:05). 4) Mid-systolic thickening and % mid-systolic thickening of LVPW were significantly increased in the pts with ASD compared with normal subjects, the pts with a-s MI, the pts with post ASD and the pts with HCM (p less than 0.01). This characteristic mid-systolic bulging of LVPW in the pts with ASD was coincident with early-systolic anterior motion of IVS. 5) Basal portion of LVPW indicated the marked inward contraction during end-systole in 30 of 35 pts (86%) with ASD. In these 30 pts, association of mitral valve (MV) prolapse was observed. 6) Following surgical closure of ASD in 19 pts, MV prolapse disappeared following normalization of excessive endsystolic contraction of the LVPW in 16 pts (functional MV prolapse). In 3 pts, however, posterior MV showed multiple abnormal echoes, indicating MV prolapse or mitral regurgitation (organic MV prolapse). In conclusion, these results suggested that mid-systolic bulging of LVPW in ASD is compensatory reaction for systolic anterior IVS motion, and that mechanism of MV prolapse in ASD is related to abnormal left ventricular geometry due to excessive inward contraction of basal portion of LVPW during end-systole.

Adult↗
PubMed2001

Measles-mumps-rubella vaccine and autistic spectrum disorder: report from the New Challenges in Childhood Immunizations Conference convened in Oak Brook, Illinois, June 12-13, 2000.

BACKGROUND: Parents and physicians are understandably concerned about the causes and treatment of autism, a devastating disease that affects the entire family. Although much has been learned about autism, there are many gaps in our knowledge about what causes the disorder and how it can be prevented. Autistic symptoms occur along a spectrum, often referred to as autistic spectrum disorder (ASD). Concern has been raised about a possible association between measles-mumps-rubella (MMR) vaccine and inflammatory bowel disease (IBD) and ASD, especially autism with regression. Also, increased requests for educational services related to ASD have raised concerns about possible increases in the incidence of ASD. METHODS: On June 12-13, 2000, the American Academy of Pediatrics (AAP) convened a conference titled "New Challenges in Childhood Immunizations" in Oak Brook, Illinois. At this conference, parents, practitioners, and scientists presented information and research on MMR vaccine and ASD. Attendees included representatives from select AAP committees and sections as well as federal and other organizations that address related issues. The multidisciplinary panel of experts reviewed data on what is known about the pathogenesis, epidemiology, and genetics of ASD and the available data on hypothesized associations with IBD, measles, and MMR vaccine. Supplemental information was requested from authors who have proposed the hypotheses and other experts in relevant areas. RESULTS: Autism is a complex disorder of uncertain and probably multiple etiologies. Genetic predisposition to ASD may involve as many as 10 genes. Many experts believe that the abnormal brain development in autism occurs before 30 weeks' gestation in most instances. In utero rubella is a known cause of autism. Animal model data support the biologic plausibility that exposure to yet unrecognized infectious or other environmental agents could cause ASD. Several factors may contribute to apparent increases in incidence of ASD in recent years. Most data indicate increased recognition and reporting as primary factors, but the epidemiologic data are insufficient to determine if there has been a true increase in the incidence of ASD. Increased reporting of ASD in recent years has occurred long after the introduction of MMR vaccine in the United States in 1971 and widespread use of this vaccine in the 1970s for routine immunization of children at 12 to 15 months of age. Appropriate detailed studies are needed to define the true incidence and prevalence of ASD. Epidemiologic studies in Europe indicate no association between MMR vaccine and ASD. Some children with ASD have gastrointestinal symptoms, but an increased rate of any specific gastrointestinal disorder in children with ASD has not been established. Studies to detect evidence of measles virus in intestinal tissue specimens from patients with IBD or autism with gastrointestinal symptoms have not used uniform techniques. Several laboratories have found no evidence of measles viruses in tissue specimens from patients with IBD, but 2 groups have found evidence of measles virus using different techniques. A group that found evidence of measles virus in affected tissue specimens from patients with IBD has also reported detecting portions of measles virus in peripheral blood lymphocytes and intestinal tissue specimens from patients with autism and gastrointestinal disorders. Finding a portion of a virus using molecular techniques does not constitute evidence for a causal relationship, because some viruses persist in unaffected hosts. Additional controlled studies in several laboratories are needed to determine if portions of measles virus persist in intestinal and other tissues of people with and without gastrointestinal disease and/or ASD. CONCLUSIONS: Although the possible association with MMR vaccine has received much public and political attention and there are many who have derived their own conclusions based on personal experiences, the available evidence does not support the hypothesis that MMR vaccine causes autism or associated disorders or IBD. Separate administration of measles, mumps, and rubella vaccines to children provides no benefit over administration of the combination MMR vaccine and would result in delayed or missed immunizations. Pediatricians need to work with families to ensure that children are protected early in the second year of life from these preventable diseases. Continued scientific efforts need to be directed to the identification of the causes of ASD.

Autistic Disorder↗
PubMed1999

Atrial septal defects in Florida panthers.

Ostium secundum atrial septal defects (ASDs) were observed in six (3 M, 3 F) of 33 (20 M, 13 F) (18%) Florida panthers (Puma concolor coryi) necropsied by veterinary pathologists between 1985 and 1998. A seventh ASD was found in a female panther necropsied in the field and is included in the pathological description but not the prevalence of ASDs in Florida panthers. One panther (FP205) with severe ASD also had tricuspid valve dysplasia (TVD). Atrial septal defects and/or TVD are believed to have caused or contributed to the deaths of three (9%) Florida panthers in this study. Mean diameter +/- SD of ASDs was 9.0 +/- 4.7 mm (range 3 to 15 mm). Gross pathological changes attributed to ASDs/TVD in severely affected panthers (ASD > or = 10 mm) (n = 4) included mild right ventricular dilatation (n = 3) and hypertrophy (n = 2), mild to severe right atrial dilatation (n = 2), and acute pulmonary edema (n = 3). Panthers with mild ASDs (ASD < or = 5 mm) (n = 3) had no other detectable gross pathological changes associated with the ASDs. Histological examination of lungs of three panthers with severe ASDs revealed mild to moderate dilatation with fibrosis and smooth muscle atrophy of the tunica media of medium to large caliber arteries (n = 2), interstitial and/or pleural fibrosis (n = 2), perivascular fibrosis (n = 1), and acute to chronic edema (n = 3). Twenty-six necropsied panthers were examined one or more times while living; medical records were retrospectively evaluated. Antemortem radiographic, electrocardiographic, and echocardiographic examinations were performed on two panthers with severe ASDs (FP20 and FP205). Thoracic radiographic abnormalities in both included right heart enlargement, and in FP205 (severe ASD and TVD), mild pulmonary overperfusion. Electrocardiographic examination of FP205 revealed a right ventricular hypertrophy pattern, while FP205 had a normal electrocardiogram. Echocardiographic examination of FP20 revealed marked right atrial dilatation; a bubble contrast study indicated regurgitation across the tricuspid valve. Echocardiographic abnormalities in FP20 included right atrial and ventricular lilatation, atrial septal drop-out, and severe tricuspid regurgitation; non-selective angiography revealed significant left to right shunting across the ASD. All panthers with severe ASDs ausculted (n = 3) had systolic right or left-sided grade I-V/VI murmurs loudest at the heart base. All male panthers with ASDs (n = 3) (100%) and 9 of 17 (53%) male panthers without ASDs in this study were cryptorchid.

Animals↗
PubMed2006

Atrial septal defect: anatomoechocardiographic correlation.

This study was undertaken to enhance understanding of the anatomic abnormalities involved in atrial septal defect (ASD) based on the anatomoechocardiographic comparison of equivalent specimens of ASD and the echocardiograms of patients with this anomaly. Of the 72 heart specimens, two had common atrioventricular canal (2.8%) and one had absence of right atrioventricular connection (1.4%). In all, 46 (63.8%) had fossa ovalis type ASD, two (2.8%) had true ostium secundum type ASD, two (2.8%) had ostium primum type ASD, two (2.8%) had superior sinus venosus type ASD, and two (2.8%) had inferior sinus venosus type ASD. One (1.4%) specimen had a coronary venous sinus type ASD and 14 (19.4%) had mixed type ASD. Of the 144 patients evaluated with echocardiography 15 (10.4%) had common atrioventricular canal, one (0.7%) had right absence of atrioventricular connection, 105 (72.9%) had ostium secundum type ASD (fossa ovalis), 10 (7%) had mixed type ASD, 9 (6.2%) had superior venous sinus type ASD, two (1.4%) had ostium primum type ASD, and two (1.4%) had true fossa ovalis type ASD. This series leads us to conclude that the key to successful management of ASD depends on understanding echocardiographic images in terms of anatomic specimens to provide appropriate evaluations for therapeutic decisions and establishment of prognoses.

Adult↗
PubMed2002

Scanning surface potential microscopic studies of photo-voltaic Langmuir-Blodgett assemblies containing an A-S-D triad molecule.

Scanning surface potential microscopy was applied to detect the photo-voltaic response of Langmuir-Blodgett (LB) monolayer assemblies containing an amphiphilic A-S-D triad molecule (ASD) with two different concentrations. The triad acts as a charge separation unit in the same way as the photosynthetic reaction center. In addition, the photo-induced multistep electron transfer systems can be organized in the LB monolayers: first electrons and holes are separated across the monolayer through the ASD triads upon photo-excitation and then the resultant electrons and holes are further separated by lateral diffusion among the concentrated A and the D moieties, respectively. The change in surface potential was clearly observed on an LB assembly with the high ASD concentration in a mixed ASD monolayer with omega-tricosenoic acid (T) (the molar ratio of ASD:T = 1:5), while the photo-response could not be observed on an LB monolayer with the low ASD concentration (the molar ratio of ASD:T = 1:30). It was interesting to note that the average surface concentration of ASD in the latter diluted monolayer was decreased only to 6 of that of the former concentrated monolayer. If the photo-response depended linearly on the ASD concentration, the surface potential would be readily detected in the latter monolayer. The nonlinearity can be attributed to the effect of succeeding lateral diffusion of the separated charges among the ASD triads. To clarify the effect of the lateral diffusion, the other type of LB assemblies, i.e., A/A-S-D double layers, was fabricated by alternate deposition of an additional acceptor (A) layer and the ASD layer. In the A/A-S-D assemblies, significant photo-induced surface potential change was observed with an A layer of a high A concentration (A:T = 1:2) even when the ASD concentration was low in the ASD layer (ASD:T = 1:30). This result supported an idea that the additional A layer enhanced lateral electron diffusion and resulted in electron accumulation in A layer and hole accumulation in the diluted ASD layer in the A/A-S-D system.

Journal Article↗
PubMed2006

Parent-child agreement regarding children's acute stress: the role of parent acute stress reactions.

OBJECTIVE: We examined parent-child agreement regarding child acute stress disorder (ASD) and the relationship between parent ASD symptoms and parent ratings of child ASD. METHOD: Parent-child dyads (N = 219; child age 8-17 years) were assessed within 1 month of child injury. Parent-child agreement was examined regarding child ASD presence, severity, and specific symptoms. Relationships among parent ASD and parent- and child-reported child ASD were examined using regression analysis and generalized estimating equations (GEE). RESULTS: Parent-child agreement was low for presence of child ASD (kappa = 0.22) and for individual symptoms. Parent and child ratings of child ASD severity were moderately correlated (r = 0.35). Parent ASD was independently associated with parent-rated child ASD, after accounting for child self-rating (beta =.65). Generalized estimating equations indicated that parents with ASD overestimated child ASD and parents without ASD underestimated child ASD, compared to the child's self-rating. CONCLUSIONS: Parents' own responses to a potentially traumatic event appear to influence their assessment of child symptoms. Clinicians should obtain child self-report of ASD whenever possible and take parent symptoms into account when interpreting parent reports. Helping parents to assess a child's needs following a potentially traumatic event may be a relevant target for clinical attention.

Adolescent↗
PubMed2003

Epitope mapping of monoclonal antibodies directed to aminopeptidase A and their relevance for albuminuria in mice.

We have shown previously that injection of specific combinations of anti-aminopeptidase A monoclonal antibodies induces an acute massive albuminuria in mice. This albuminuria is neither dependent on systemic mediators of inflammation nor angiotensin II. In this study, we examined the contribution of two individual antibodies, the enzyme-inhibiting antibody ASD-37 and the non-enzyme-inhibiting antibody ASD-41, in the induction of albuminuria as well as the interactions between these two monoclonals. In addition, we have mapped the epitopes of both antibodies using in vitro coupled transcription/translation of specifically designed cDNA fragments followed by immunoprecipitation, and using peptide enzyme-linked immunosorbent assay in case of a continuous epitope. A single intravenous injection of 4 mg of either ASD-37 or ASD-41 did not induce albuminuria. This dose of ASD-37 did not completely inhibit enzyme activity. The combination of 4 mg ASD-37/41 (1:1 weight ratio) induced albuminuria and almost completely inhibited enzyme activity. Similar results were obtained with a combination of ASD-37/41 in a 1:39 or 39:1 weight ratio. Administration of 2 mg ASD-41 24 h before injection of 2 mg ASD-37 significantly enhanced albuminuria. The epitope of ASD-37 is located at the C-terminal end of aminopeptidase A, whereas the ASD-41 epitope is mapped near the enzyme active site. Our data suggest that ASD-41 modulates the binding of ASD-37 to its epitope and/or vice versa. As a consequence, ASD-37 and ASD-41 act synergistically, not only in inhibiting enzyme activity but also in inducing albuminuria.

Albuminuria↗
PubMed2002

[Cardiopulmonary exercise capacity in adult patients with atrial septal defect].

UNLABELLED: The aim of the study was to evaluate cardiopulmonary exercise capacity (WTS) in adult patients with atrial septal defect (ASD). After excluding 10 patients with additional cardiac, pulmonary or muscle diseases, 53 patients with ASD (Gr-ASD; mean age 37.8 +/- 14.9 years; 35 women, 19 men) were enrolled in our study. In addition, we evaluated 22 healthy age and gender matched control subjects (Gr-K; mean age 36.6 +/- 14.9 years; 13 women, 9 men). First, all subjects underwent resting spirometry and forced vital capacity--(FVC; % of predicted value), one-second forced expiratory volume--(FEV1; % of predicted value) and FEV1/FVC (%) were determined. Then each subject performed a symptom-limited, incremental exercise test (modo Bruce). We evaluated the following parameters of resting metabolism: respiratory rate--(RR; L/min), minute ventilation--(VE; L/min), tidal volume--(Vt; L), oxygen uptake--(VO2; ml/kg/min), end-tidal carbon dioxide pressure--(PET CO2; mmHg), end tidal oxygen pressure--(PET O2; mmHg), ventilatory equivalent for carbon dioxide--(VE/VCO2) and ventilatory equivalent for oxygen--(VE/VO2). The following exercise parameters were analysed: peak oxygen uptake--(VO2 peak; ml/kg/min), VO2 peak expressed as % of predicted value--(VO2 %N), anaerobic threshold--(AT; % VO2 max), ventilatory equivalent for carbon dioxide--(VE/VCO2), end-tidal carbon dioxide pressure--(PET CO2; mmHg), O2 pulse, time of exercise--(T; min) and time to AT--(TAT; min). In addition, we performed a subgroup analysis for ASD patients below and > or = 40 years of age. All values were expressed as mean +/- SD. RESULTS: Although there was no significant difference in FVC, FEV1, FEV1/FVC, VO2, VE, Vt, RR between ASD patients and controls, the ASD patients aged 40 or older showed significantly lower FEV1/FVC and significantly higher RR. Expiratory gas exchange analysis showed significant differences between the ASD patients and controls (higher VE/VCO2, VE/VO2, PET CO2, and lower PET O2 respectively). Moreover, VO2 peak, VO2%N, AT, PET CO2 and O2 pulse were significantly lower while VE/VCO2 was significantly higher in ASD patients than in normal subjects. On average, VO2%N in ASD patients was only 61% of the predicted value for age and sex. Total time of exercise and time to AT were significantly shorter in ASD patients as well. CONCLUSIONS: WTS allows appropriate evaluation of cardiopulmonary capacity in ASD patients, though the mechanisms underlying ventilatory and hemodynamic abnormalities are still not fully understood. Adult patients with ASD reveal ventilatory abnormalities with an age-related trend towards deterioration. Cardiopulmonary exercise capacity in adults with ASD is markedly reduced in comparison with healthy population and deteriorates with age. WTS complements echocardiographic and hemodynamic evaluation of patients with ASD, and is helpful in indicating patients for ASD closure and their follow up.

Adult↗
PubMed2004

[Transcatheter closure of secundum atrial septal defect in children].

OBJECTIVE: This study was undertaken to investigate the indication, methodology and complication of transcatheter closure of secundum atrial septal defect (ASD). ASD transcatheter occlusion techniques have become alternative to surgical procedures. A number of different devices are available for transcatheter ASD closure. The type and incidence of complications depend partially upon different devices. METHODS: A retrospective analysis was performed on the patients treated from October 1998 to January 2003. Transcatheter closure of ASD with Amplatzer septal occluder (ASO) was performed in 119 patients, of whom 3 patients were multiple ASD, 3 associated with pulmonary stenosis (PS) and 3 patent ductus arteriosus (PDA). The age of the cases ranged from 0.8 to 17 years (mean 7.5 +/- 2.8 years) and the body weight ranged from 6.7 to 88 kg (mean 23.7 +/- 7.8 kg). They all met with criteria for transcatheter closure. The balloon-stretched diameter of ASD was determined with fluoroscopy, ultrasound and measuring plate. A choice of device size was identical to or 1 approximately 2 mm larger than the stretched diameter (SD). A simultaneous PDA closure with device or balloon dilation was done in six cases associated with PDA or PS, respectively. Follow-up was performed based on the echocardiographic and clinical findings. RESULTS: In 119 cases examined with transesophageal echocardiography (TEE) or trans-thoracic echocardiography (TTE), ASD mean diameter was (12.9 +/- 5.6) mm (6.5 - 34.5 mm), pulmonary mean pressure was (29.0 +/- 5.0) mmHg (25.0 - 62.0 mmHg), and SD was (15.7 +/- 4.8) mm (8.0 - 38.0 mm). The diameters of these devices were (15.0 +/- 5.0) mm (8 - 38 mm). The devices were successfully implanted in 112 cases. Of them, 3 patients had multiple ASD with one device occlusion. 6 cases associated with PDA or PS were treated successfully with PDA occlusion or balloon dilatation, respectively. The immediate, one month and one year complete occlusion rates were 93.8% (105/112), 97.3% (109/112) and 98.2% (110/112), respectively. Residual shunt remained in 2 cases. No complication occurred except transient atrial premature beats and grade II type 1 A-V block in 5 cases (4.5%) and 1 cases (0.9%), respectively. The whole time period of the procedure ranged from 25 to 68 minutes. The total follow up period was from one month to 4.3 years. No unsatisfactory device position or embolization or clinical evidence of bacterial arteritis was found during the follow-up period. CONCLUSION: Transcatheter closure of secundum ASD using the ASO is a safe and effective alternative to surgical repair. Transcatheter closure of secundum ASD associated with small anterior, inferior or posterior rim is feasible using ASO. ASO can be performed in infants and young children only if the diameter of disk is smaller than the diameter of atrial septum. Multiple ASD is not the contraindication for intervention. If the diameter of ASD is over 36 mm, the device choice should depend on the maximum diameter of ASD determined with echocardiography. TTE is suitable for the smaller ASD and TEE for the bigger ASD. It is very important to avoid air embolism and atrial perforation during the procedure.

Adolescent↗
PubMed2001

Cytokine and immunogenetic profiles in Japanese patients with adult Still's disease. Association with chronic articular disease.

OBJECTIVE: To determine cytokines and MHC class II alleles in Japanese patients with adult Still's disease (ASD) and clarify the association between those profiles and chronic articular disease. METHODS: Of 35 patients with ASD (13 men, 22 women, mean age at onset 34.0 yr), 17 (49%) had chronic arthritis (>6 months, chronic articular ASD) and 18 (51%) lacked chronic arthritis (systemic ASD). Cytokines and cytokine receptors in sera were measured by ELISA. Correlations of each cytokine with disease activity or C-reactive protein (CRP) were determined. MHC class II alleles were examined by polymerase chain reaction methods. RESULTS: In chronic articular ASD, female gender was more frequent and liver dysfunction and myalgia were rarer than in systemic ASD. In active disease, the white blood cell count was lower, but total IgG was greater in patients with chronic articular ASD than in those with systemic ASD. Tumour necrosis factor (TNF) alpha, soluble TNF receptor 2 and interleukin (IL)-18 were increased in both types of ASD, even in remission. Soluble IL-2 receptors, IL-4 and IL-18 levels were correlated with disease activity or CRP value only in chronic articular ASD. Interferon gamma and IL-8 remained increased only in chronic articular ASD, even when disease activity, including IL-6 and CRP, was low. DRB1*1501 (DR2) and DRB1*1201 (DR5) alleles were more frequent in chronic articular than in systemic ASD, whereas DQB1*0602 (DQ1) was frequently observed in both types of ASD. CONCLUSION: The present study suggests that ASD with chronic articular disease has distinct clinical, cytokine and immunogenetic profiles.

Adult↗
PubMed1998

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.

BACKGROUND: Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Although some embryological pathways have been elucidated, the molecular etiologies of ASD are not fully understood. Most cases of ASD are isolated, but some individuals with ASD have a family history of this defect or other congenital heart malformations. METHODS AND RESULTS: Clinical evaluation of three families identified individuals with ASD in multiple generations. ASD was transmitted as an autosomal dominant trait in each family. ASD was the most common anomaly, but other heart defects occurred alone or in association with ASD in individuals from each kindred. Genome-wide linkage studies in one kindred localized a familial ASD disease gene to chromosome 5p (multipoint LOD score=3.6, theta=0.0). Assessment of 20 family members with the disease haplotype revealed that 9 had ASD, 8 were clinically unaffected, and 3 had other cardiac defects (aortic stenosis, atrial septal aneurysm, and persistent left superior vena cava). Familial ASD did not map to chromosome 5p in two other families. CONCLUSIONS: Familial ASD is a genetically heterogeneous disorder; one disease gene maps to chromosome 5p. Recognition of the heritable basis of familial ASD is complicated by low disease penetrance and variable expressivity. Identification of ASD or other congenital heart defects in more than one family member should prompt clinical evaluation of all relatives.

Adult↗
PubMed1998

Chronic arthritis and carpo:metacarpal ratio in Japanese patients with adult Still's disease.

OBJECTIVE: To characterize Japanese patients having adult Still's disease (ASD) with chronic arthritis (> 6 months) and to examine the association of chronic arthritis with carpo:metacarpal ratio (CMC ratio), an index of radiographic progression in rheumatoid arthritis (RA). METHODS: Twenty-seven patients with ASD (16 women and 11 men, mean age at disease onset 27.7 years) were classified into 2 groups: patients with (chronic articular ASD, 16 patients, 59%) or without (systemic ASD, 11 patients, 41%) chronic arthritis. Clinical and laboratory findings were compared between both groups. CMC ratio was calculated on serial hand radiographs in patients with chronic articular ASD. RESULTS: In our series, serositis was rarely observed in chronic articular ASD. Peripheral arthritis (including transient arthritis), such as metacarpophalangeal, proximal interphalangeal, or ankle joint, was more frequently observed in chronic articular ASD than in systemic ASD (p < 0.05). Wrist arthritis was frequently observed also in systemic ASD; however, joint space narrowing of carpometacarpal or intercarpal joints was recognized only in chronic articular ASD (44%). CMC ratio at the last observation in 14 patients with chronic articular ASD was significantly decreased (0.526 +/- 0.039) compared to that at disease onset (0.553 +/- 0.034) (p < 0.05), while no decrease was observed in 4 with systemic ASD (0.565 +/- 0.062 at disease onset, 0.563 +/- 0.043 at the last observation). CONCLUSION: It is suggested that chronic articular ASD has certain characteristics. CMC ratio may be a quantitative index for assessment of radiographic changes of carpal joints, not only in RA but also in chronic articular ASD.

Arthritis↗
PubMed1994

Importance of anti-siphon devices in the treatment of pediatric hydrocephalus.

The effects of an anti-siphon device (ASD) on shunt flow and intracranial pressure (ICP) in 16 children with hypertensive hydrocephalus were examined using quantitative radionuclide shuntography (99mTc) with the children in supine and sitting positions. The average age of these patients was 9.5 years. Results were compared with those recorded in 36 patients with adult normal-pressure hydrocephalus (NPH). The closing pressure levels of shunt valve used were low in 8 cases, medium in 7 and high in 1. Half the children (8) had shunt systems with, and the other 8 without, ASD. In the children who had the shunt system without ASD, sitting shunt flow was significantly greater than supine shunt flow, which indicated overdrainage. Conversely, in children who had the shunt system with ASD, supine shunt flow was greater than sitting shunt flow. Because ASD prevented overdrainage, ICP was higher with the shunt system with ASD than with the shunt system without ASD. Without ASD, sitting shunt flow of children was lower than that of adult patients with NPH because of the lower hydrostatic pressure, which correlated with their height. Conversely, in the presence of a shunt system with ASD, sitting shunt flow of children was greater than that of adults, because of the higher ICP and lower hydrostatic pressure. The effect of ASD was smaller in children than in adults, because positive pressure over the ASD was greater (hypertension vs normal pressure) and negative pressure under the ASD was less (short vs tall) in children than in adults. Thus, in children the ASD was effective in preventing overdrainage.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2005

Atrial function after surgical and percutaneous closure of atrial septal defect: a strain rate imaging study.

The effect of operation and the effect of the imposition of an occluding device on atrial function for patients with an atrial septal defect (ASD) has never been studied. Thus, the aim of this study was to evaluate for the first time both left atrial (LA) and right atrial (RA) function of children after transcatheter ASD closure with that of sex- and age-matched patients with surgically treated ASD, and sex- and age-matched control subjects using strain (epsilon) and epsilon rate imaging (SR). In all, 45 participants formed our studied sample: 15 patients after successful ASD device closure (ASD-D [atrial septal defect device closure] group, mean age: 9 +/- 3 years) and 15 age- and sex-matched patients after successful ASD surgical closure (ASD-S [atrial septal defect surgical closure] group, mean age: 9 +/- 3 years). All patients underwent ASD correction at least 6 months before the study. As a control group we selected 15 age- and sex-matched control subjects. In the ASD-S group the peak systolic epsilon and SR values were significantly reduced in both RA and LA when compared with control and ASD-D groups (P < .01). In the ASD-D group there was no significant difference in both LA and RA deformation properties when compared with control subjects. SR imaging indexes could provide new, noninvasive, clinically relevant insight on regional changes in atrial function for patients with ASD. ASD percutaneous closure is useful not only because it is less expensive and invasive than open-heart operation but also for its conservation of both LA and RA regional myocardial properties.

Atrial Function↗
PubMed2006

Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample.

Early identification of young children with an autism spectrum disorder (ASD) can lead to earlier entry into intervention programs that support improved developmental outcomes. The purpose of the present study was to examine identification and diagnostic patterns of children with ASD who live in a large metropolitan area. One hundred fifteen 8-year-old children diagnosed with ASD were identified from a population-based surveillance system at the Centers for Disease Control and Prevention. Primary variables of interest included earliest age of evaluation and earliest age of diagnosis identified from surveillance records, type of initial ASD diagnosis, evaluation sources that documented first ASD diagnosis, characteristics of professionals assigning first ASD diagnosis, and diagnostic tools used to aid the diagnostic process. We found that children with ASD identified by the surveillance system were initially evaluated at a mean of 48 months but were not diagnosed with ASD until a mean age of 61 months. There were no differences in timing of diagnosis based on sex or racial/ethnic classification, although degree of impairment associated with ASD predicted mean age at first evaluation and mean age at first ASD diagnosis. Most children were identified at non-school sources, such as hospitals and clinics; 24% of the sample did not receive a documented ASD diagnosis until entering school. Most practitioners (70%) did not use a diagnostic instrument when assigning the first ASD diagnosis. Implications for early identification of ASD are discussed.

Autistic Disorder↗