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PubMed1996

[Expression of S.sonnei form I antigen gene and V.cholerae toxin B subunit gene in S.flexneri 2a strain and investigation of their immunoprotective response in mice].

The genes encoding S. sonnei form I O antigen and V. cholerae B subunit were cloned into an expression vector containing asd gene of Streptococcus mutans by gene recombination. The final recombination plasmid was transformed into the asd mutant of S. flexneri 2a (strain T32). Analysis of LPS silver staining and western blotting indicated that the genes encoding CT-B and form I O antigen could stably express in the asd mutant T32 strain. Immune protection tests in mice showed that the recombinant strain constructed in this study could provide 100% protection against the challenge from S. flexneri 2a and S. Sonnei and also showed a good immune protection (70%) against V. cholerae. This recombinant strain has the following advantages: trivalent, stable and no vector drug resistance markers.

Animals↗
PubMed1996

Atrial septal defect in adults.

BACKGROUND: The value of operation of atrial septal defect (ASD) in adults, especially after 40 years, is still discussed. METHODS AND RESULTS: In 1994-95 57 adults with unoperated ASD were examined clinically, echocardiographically and in 75% by catheterization. Type primum was present in 11%, type secundum in 77% and sinus venosus in 11%. Group A comprised 28 patients aged 20 to 40 years (average 29), group B comprised 29 patients aged 40 to 62 years (average 51). The groups (B:A) did not differ in pulmonary to systemic flow (Qp/Qs) (2.4:2.2) or pulmonary arteriolar resistance (PAR) (group B 2 U.m2, group A 1.7 U.m2), the older patients had worse New York Heart Association (NYHA) classification, more frequent tricuspid regurgitation (group B 96%, group A 45%), significantly larger right ventricles and pulmonary arteries, higher mean pulmonary artery pressure (group B 26 mmHg, group A 17 mmHg) and right ventricle end-diastolic pressure (RVEDP group B 10, group A 8.8 mmHg). All defects larger than 10 mm by transesophageal echocardiography (TEE) had Qp/Qs 1.5 or more. Forty patients were operated with zero mortality, in three cases by minithoracothomy. Postoperatively, 50% of group A and 63% of group B felt better, NYHA classification was significantly better in both groups. Tricuspid regurgitation decreased in both groups as well as the size of right ventricle. The size of the left ventricle enlarged after operation in group A. CONCLUSION: This study suggests to operate adults with ASD larger than 10 mm by TEE with signs of right ventricle overload and/or Qp/Qs 1.5 or more, who have normal PAR. Operative mortality was zero in both age groups, the functional repair was better in younger patients (under 40 years).

Adult↗
PubMed1997

Association of secundum atrial septal defect and mitral lesion in childhood: a case report.

The association of secundum atrial septal defect (ASD) and congenital or acquired mitral lesions is rare. Only one case of secundum ASD and mitral lesion, in a three-year-old girl, has been encountered over a three-year period in this hospital. Diagnosis was not difficult with echocardiography, and was confirmed by operation. Surgical procedures including repair of ASD and annuloplasty of the mitral valve were performed under cardiopulmonary bypass. The mitral valve lesion was found during the operation to be of a congenital origin. Mitral lesions should not be neglected, and repair should be attempted even in a pediatric patient. Otherwise, anatomical and functional disorders of the mitral valve may develop at the early postoperative stage.

Child, Preschool↗
PubMed1997

Cyclosporin A in the treatment of adult onset Still's disease.

OBJECTIVE: To determine whether cyclosporin A (CyA) is a useful option in the treatment of adult onset Still's disease (ASD). METHODS: Low dose CyA was given to 6 patients with chronic or relapsing ASD who had not been prescribed any other second line agents during the previous 6 mo. RESULTS: The disease completely remitted in 4 patients and improved markedly in the remaining 2. The corticosteroid requirement was substantially reduced in all cases. Tolerability was rated good or very good by all patients but one, who reported good tolerance to CyA only in a new formulation. CONCLUSION: CyA may be included among the second line agents used in the treatment of refractory ASD.

Administration, Oral↗
PubMed1997

[Minimally invasive approach for mitral valve, aortic valve, and atrial septal defect surgery].

We successfully introduced minimally invasive cardiac surgery (MICS) to japan by performing thoracoscopic clipping of a patent ductus arteriosus in July 1992. MICS via a small right parasternal incision (Cosgrove procedure) was applied for one patients with severe rheumatic mitral stenosis, one with severe aortic regurgitation, and one with atrial septal defect (ASD). Mitral valve replacement (MVR), aortic valve replacement (AVR), and direct closure of the ASD were performed successfully by MICS for the the first time in Japan. All three patients required no blood transfusion and had no complications postoperatively, being discharged from hospital at 15, 13, and 9 days after their operations. MICS was satisfactory for mitral valve and ASD operations, but AVR by this approach took much longer than by standard midline sternotomy due to the poor surgical field obtained via the small right parasternal incision. A minimally invasive approach for surgery on the aortic valve and ascending aorta may require transection of the sternum or some other method. MICS has several advantages, including less trauma and pain, faster patient recovery, shorter ICU and hospital stays, a lower cost, and a better cosmetic outcome. Therefore, it is better for the patient when it is feasible. MICS should develop and be applied to more patients with cardiovascular disease in the future. Some of the standard cardiovascular operations may soon be replaced by MICS.

Adult↗
PubMed2004

Measuring progress in children with autism spectrum disorder who have cochlear implants.

OBJECTIVE: To quantify progress after cochlear implantation for children with autism spectrum disorder (ASD). STUDY DESIGN: Retrospective review of speech and language and speech perception test scores of children with autism who have received a cochlear implant at our center. SETTING: University of Michigan Medical Center, Cochlear Implant Program. PATIENTS: Six children, ages 3 to 16 years, who received cochlear implants at the our center. All children were diagnosed as having ASD by a neuropsychologist, either before or after receiving a cochlear implant. MAIN OUTCOME MEASURES: Children participated in preoperative and postoperative speech and language and speech perception testing. A survey was administered to parents to evaluate subjective impressions of cochlear implant benefit and quality of life before and after implantation. RESULTS: Improved scores were recorded for children on whom standardized expressive and receptive vocabulary testing was possible. Children who could not complete standardized tests demonstrated improvement in raw scores. Improvement on the Meaningful Auditory Integration Scale was noted for the 4 of 7 children who completed the scale preoperatively and postoperatively. Survey results suggested changes in responsiveness to sound, interest in music, vocalization, and eye contact following implantation. Five of the 6 families indicated that they would recommend a cochlear implant to another family in a similar situation. CONCLUSIONS: Gains made by children in our study were small compared with the general implant population; however, when compared with themselves preoperatively, these children did demonstrate progress. Improvements in behaviors and interaction point to a quality of life benefit following implantation that is difficult to quantify.

Autistic Disorder↗
PubMed1996

Advantage of Inoue balloon catheter in mitral balloon valvotomy: experience with 220 consecutive patients.

Percutaneous mitral balloon valvotomy (PMV) using the Inoue balloon catheter was attempted in 220 consecutive patients with severe symptomatic mitral stenosis. Their age range was 10-63 mean 30 +/- 10 years; 161 patients were females and 59 were males; 29 patients were in atrial fibrillation. Eleven patients were pregnant; 14 patients underwent previous surgical commissurotomy. The procedure was technically successfully performed in 215 (97.7%) patients. The mean fluoroscopy time was 15.5 +/- 6.4 min and mean procedure time was 109 +/- 79 min. Optimal results (group I) was achieved in 207 patients who have mitral score of 7 +/- 1. PMV resulted in decrease in left atrial pressure from 23 +/- 5 to 14 +/- 4 mm Hg (P < 0.001), the mean mitral valve gradient (MVG) decreased from 15 +/- 4 to 6 +/- 3 mm Hg (P < 0.001). The mitral valve area (MVA) by catheter increased from 0.7 +/- 0.2 to 1.7 +/- 0.5 cm2 (P < 0.001) and MVA as determined by echocardiography (2DE) increased from 0.8 +/- 0.1 to 1.9 +/- 0.3 cm2 (P < 0.001). The results were suboptimal in eight patients who have a mitral score of 10 +/- 1 (group II) MVA by catheter increased from 0.7 +/- 0.2 to 1 +/- 0.1 cm2 and Doppler MVA increased from 0.8 +/- 0.1 to 1.3 +/- 0.1 cm2. There were no deaths or thromboembolism. Two patients developed cardiac tamponade; mild mitral regurgitation (MR) developed in 24 patients (11%) and increased by one grade in another 22 patients (10%). Severe MR was encountered in three patients (1.4%). A small ASD (QP/QS < or = 1.3) was detected by oximetry in 5% of patients and by color-flow mapping in 26% of patients. One hundred fifty-eight patients from group I were followed up, for a mean of 32 +/- 12 months; MVA remained at 1.7 +/- 0.4 cm2. Seven patients developed mitral restenosis in group I, and 5 out of 8 patients developed restenosis in group II. We conclude that the hemodynamic results are good and comparable with those reported with double balloon technique. However, the Inoue balloon has several advantages over the double balloon technique: (1) low incidence of mitral regurgitation and ASDs; (2) shorter procedure and fluoroscopy time; and (3) low complication rates and the valve anatomy affects the immediate and late outcome of mitral balloon valvotomy.

Adolescent↗
PubMed1998

Transcatheter closure of secundum atrial septal defect in a patient with dextrocardia using the amplatzer septal occluder.

Transcatheter closure of secundum atrial septal defects (ASD) in patients with levocardia is performed routinely using various investigational devices. A 6-yr-old child with dextrocardia, situs inversus, and secundum ASD measuring 13 mm by TEE underwent successful transcatheter closure using a 15 mm Amplatzer Septal Occluder with complete closure of the defect.

Abnormalities, Multiple↗
PubMed1996

Glutathione S-transferases in the Japanese quail: tissue distribution and purification of the liver isozymes.

Cytosolic glutathione S-transferase (GST) activities toward 1-chloro-2,4-dinitro-benzene (CDNB), 1,2-dichloro-4-nitrobenzene (DCNB), ethacrynic acid (EA), 1,2-epoxy-3-(p-nitrophenoxyl)propane (EPNP), trans-4-phenyl-3-buten-2-one(t-PBO), delta 5-androstene-3,17-dione (ASD) and trans-stilbene oxide (t-SO); cytosolic glutathione peroxidase activity toward cumene hydroperoxide (CuOOH); and microsomal GST activity toward CDNB were examined in liver, kidney, brain, and lung of adult male and female Japanese quail. In all cases, the renal specific activity per milligram protein was higher than the hepatic activity and was the highest among the four tissues examined. No consistent sex differences in GST activity were observed. The GSTs were purified from quail liver cytosol by S-hexylglutathione and glutathione affinity chromatography. Total GSTs eluted from the S-hexylglutathione affinity column were further separated by chromatofocusing, and the microheterogeneity of the GST isozymes was shown by high-resolution native isoelectrofocusing (IEF) in polyacrylamide slab gels and by SDS-PAGE. Five subunits were identified: QL1 (30.5 kDa), QL2 (27.2 kDa), QL3a (26.8 kDa), QL3b (26.5 kDa), and QL4 (25.5 kDa). Western blot analysis revealed that QL1 and QL2 reacted with antibodies raised against the rat Mu class GSTs (Yb1 and Yb2), and QL3a and QL3b reacted with those raised against the Alpha class (rat Ya and mouse a). Substrate specific activity of each isoform was determined with CDNB, DCNB, CuOOH, EA, t-PBO, ASD, and t-SO. QL3a and QL3b have high reactivity toward CuOOH, while QL1 and QL2 showed high activity toward t-SO. The N-terminal amino acid sequence of QL2 was identical to that of the chicken Mu class GST subunit CL2. However, no sequence was obtained with QL1 due to possible N-terminal blockage.

Amino Acid Sequence↗
PubMed2006

Music therapy for autistic spectrum disorder.

BACKGROUND: The central impairments of people with autistic spectrum disorder (ASD) include social interaction and communication. Music therapy uses music and its elements to enable communication and expression, thus attempting to address some of the core problems of people with ASD. OBJECTIVES: To review the effects of music therapy for individuals with autistic spectrum disorders. SEARCH STRATEGY: The following databases were searched: CENTRAL, 2005, (Issue 3); Medline, (1966 to July 2004); Embase, (1980 to July 2004); LILACS, (1982 to July 2004); PsycINFO, (1872 to July 2004); CINAHL, (1982 to July 2004); ERIC, (1966 to July 2004); ASSIA, (1987 to July 2004); Sociofile, (1963 to July 2004); Dissertation Abstracts International, (late 1960's to July 2004). These searches were supplemented by searching specific sources for music therapy literature and manual searches of reference lists. Personal contacts to some investigators were made. SELECTION CRITERIA: All randomised controlled trials or controlled clinical trials comparing music therapy or music therapy added to standard care to "placebo" therapy, no treatment or standard care. DATA COLLECTION AND ANALYSIS: Studies were independently selected, quality assessed and data extracted by two authors. Continuous outcomes were synthesised using a standardised mean difference (SMD) in order to enable a meta-analysis combining different scales, and to facilitate the interpretation of effect sizes. Heterogeneity was assessed using the I(2) statistic. MAIN RESULTS: Three small studies were included (total n = 24). These examined the short-term effect of brief music therapy interventions (daily sessions over one week) for autistic children. Music therapy was superior to "placebo" therapy with respect to verbal and gestural communicative skills (verbal: 2 RCTs, n = 20, SMD 0.36 CI 0.15 to 0.57; gestural: 2 RCTs, n = 20, SMD 0.50 CI 0.22 to 0.79). Effects on behavioural problems were not significant. AUTHORS' CONCLUSIONS: The included studies were of limited applicability to clinical practice. However, the findings indicate that music therapy may help children with autistic spectrum disorder to improve their communicative skills. More research is needed to examine whether the effects of music therapy are enduring, and to investigate the effects of music therapy in typical clinical practice.

Autistic Disorder↗
PubMed2000

Transcatheter atrial septal defect occlusion in piglets by balloon detachable devices.

Detachable balloon devices were applied in the occlusion of experimental ASDs in 20 piglets. The detachable balloons were made from Latex; the occluder balloon was placed on the left atrial side and required a floppy disk and counter-occluder(s) support from the right atrial side (17 experiments), or a second detachable balloon from the right side (3 experiments). Full occlusion was noticed in all cases. There was one device embolization in the descending aorta (device with a regular floppy disk and no counter-occluder). The device was covered by tissue in 3 to 4 weeks with the balloon flat on the septum in approximately 2 months; it required minimal rim and no wires in the left atrium. The double balloon model was wireless. The balloon detachable device was found effective and safe in the occlusion of experimental ASDs in piglets.

Animals↗
PubMed2006

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.

Fine mapping of chromosomal deletions and genotype-phenotype comparisons of clinically well-defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven patients with cytogenetically visible deletions involving the terminal region of chromosome 5q have been described, but the extent of the deletion was determined only in one case. In this study we describe a 15-year-old boy with Ebstein anomaly, atrial septal defect (ASD), atrioventricular (AV) conduction defect, and microcephaly. He had an apparently balanced paracentric inversion of chromosome 5, with the karyotype 46, XY,inv(5)(q13q35) de novo. Further mapping of the chromosome breakpoints using fluorescence in situ hybridization (FISH) revealed a 2.2 Mb microdeletion at the 5q35 breakpoint, which spans 16 genes, including the cardiac homeobox transcription factor gene NKX2-5. The current data suggest that haploinsufficiency of NKX2-5 cause Ebstein anomaly and support previous results showing that NKX2-5 mutations cause ASD and AV conduction defect. Furthermore, we suggest presence of a new microcephaly locus within a 2.2 Mb region at 5q35.1-q35.2.

Abnormalities, Multiple↗
PubMed2006

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3-16 years old, were evaluated using three different methods to document autistic symptoms: (a) parent interview, (b) direct observation, and (c) a behavior checklist. Blood sterols were also measured at regular intervals. Each subject was determined to have Autistic Disorder, Pervasive Developmental Disorder, not otherwise specified (PDD NOS), or no diagnosis on the autism spectrum, based on DSM-IV criteria. Correlations among variables were calculated, and blood sterol levels were compared between diagnostic groups. Approximately three-fourths of the children with SLOS (71-86% depending on the evaluation method) had an ASD, about 50% diagnosed with Autistic Disorder and the rest with PDD NOS. The children's baseline cholesterol, 7-dehydrocholesterol (7-DHC), and 8-dehydrocholesterol (8-DHC) levels, and cholesterol levels following supplementation did not correlate with the presence or severity of autistic symptoms. These results suggest that most children with SLOS have some variant of autism. SLOS appears to have the most consistent relationship with autism of any single gene disorder. Therefore, a link between cholesterol metabolism and autism is suggested. With further study, these findings, together with knowledge of the genetic and biochemical defects in SLOS, will likely provide valuable insights into the causes of autism in general.

Adolescent↗
PubMed2006

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

Data from 10 sites of the NICHD/NIDCD Collaborative Programs of Excellence in Autism were combined to study the distribution of head circumference and relationship to demographic and clinical variables. Three hundred thirty-eight probands with autism-spectrum disorder (ASD) including 208 probands with autism were studied along with 147 parents, 149 siblings, and typically developing controls. ASDs were diagnosed, and head circumference and clinical variables measured in a standardized manner across all sites. All subjects with autism met ADI-R, ADOS-G, DSM-IV, and ICD-10 criteria. The results show the distribution of standardized head circumference in autism is normal in shape, and the mean, variance, and rate of macrocephaly but not microcephaly are increased. Head circumference tends to be large relative to height in autism. No site, gender, age, SES, verbal, or non-verbal IQ effects were present in the autism sample. In addition to autism itself, standardized height and average parental head circumference were the most important factors predicting head circumference in individuals with autism. Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents. Increased head circumference was associated with a higher (more severe) ADI-R social algorithm score. Macrocephaly is associated with delayed onset of language. Although mean head circumference and rates of macrocephaly are increased in autism, a high degree of variability is present, underscoring the complex clinical heterogeneity of the disorder. The wide distribution of head circumference in autism has major implications for genetic, neuroimaging, and other neurobiological research.

Adolescent↗
PubMed2003

Long-term anti-tumor necrosis factor antibody therapy in rheumatoid arthritis patients sensitizes the pituitary gland and favors adrenal androgen secretion.

OBJECTIVE: New insights into the role of tumor necrosis factor (TNF) in the pathogenesis of rheumatoid arthritis (RA) have expanded our understanding about the possible mechanisms by which anti-TNF antibody therapy reduces local synovial inflammation. Beyond local effects, anti-TNF treatment may modulate systemic antiinflammatory pathways such as the hypothalamic-pituitary-adrenal (HPA) axis. This longitudinal anti-TNF therapy study was designed to assess these effects in RA patients. METHODS: RA patients were given 5 infusions of anti-TNF at weeks 0, 2, 6, 10, and 14, with followup observation until week 16. We measured serum levels of interleukin-6 (IL-6), adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone (17[OH]progesterone), cortisol, cortisone, androstenedione (ASD), dehydroepiandrosterone (DHEA), and DHEA sulfate in 19 RA patients. RESULTS: Upon treatment with anti-TNF, we observed a fast decrease in the levels of serum IL-6, particularly in RA patients who did not receive parallel prednisolone treatment (P = 0.043). In these RA patients who had not received prednisolone, the mean serum ACTH levels sharply increased after every injection of anti-TNF, which indicates a sensitization of the pituitary gland (not observed for the adrenal gland). During treatment, the ratio of serum cortisol to serum ACTH decreased, which also indicates a sensitization of the pituitary gland (P < 0.001), and which was paralleled by constant cortisol secretion. The adrenal androgen ASD significantly increased relative to its precursor 17(OH)progesterone (P = 0.013) and relative to cortisol (P = 0.009), which indicates a normalization of adrenal androgen production. The comparison of patients previously treated with prednisolone and those without previous prednisolone revealed marked differences in the central and adrenal level of this endocrine axis during long-term anti-TNF therapy. CONCLUSION: Long-term therapy with anti-TNF sensitizes the pituitary gland and improves adrenal androgen secretion in patients who have not previously received prednisolone treatment. These changes are indicative of normalization of the HPA axis and must therefore be considered as evidence of an additional antiinflammatory influence of anti-TNF treatment in patients with RA.

17-alpha-Hydroxyprogesterone↗
PubMed2006

Can folic acid protect against congenital heart defects in Down syndrome?

BACKGROUND: Several studies have suggested a protective effect of folic acid (FA) on congenital heart anomalies. Down syndrome (DS) infants are known to have a high frequency of heart anomalies. Not all children with DS suffer from heart anomalies, which raises the question whether maternal factors might affect the risk of these anomalies. Our objectives were to investigate whether first-trimester FA use protects against heart anomalies among DS children. METHODS: Women with liveborn DS children participating in the Slone Epidemiology Center Birth Defects Study between 1976 and 1997 were included. We performed case-control analyses using DS, with heart anomalies as cases and DS, without heart anomalies as controls. Subanalyses were performed for defects that have been associated with FA in non-DS populations (conotruncal, ventricular septal [VSD]) and for those that are associated with DS (ostium secundum type atrial septal defects [ASD] and endocardial cushion defects [ECD]). Exposure was defined as the use of any FA-containing product for an average of at least 4 days per week during the first 12 weeks of pregnancy, whereas no exposure was defined as no use of FA in these 12 weeks. RESULTS: Of the 223 cases, 110 (49%) were exposed versus 84 (46%) of the 184 controls. After adjustment for possible confounders, no protective effect of FA was found on heart anomalies overall (OR 0.95, 95% CI: 0.61-1.47) nor separately for conotruncal defects, VSDs, ASDs, or ECDs. CONCLUSIONS: Our study does not show a protective effect of FA on heart anomalies among infants with DS.

Dietary Supplements↗
PubMed2001

Platypnea-orthodeoxia: management by transcatheter buttoned device implantation.

Dyspnea and arterial desaturation on upright position in elderly subjects is described as platypnea-orthodeoxia syndrome (POS) and in some patients it is due to right-to-left shunt across the atrial septal defect (ASD)/patent foramen ovale (PFO). Surgical closure of ASD/PFO has been the only available treatment option. Buttoned device has been used for occlusion of ostium secundum ASD, PFO associated with presumed paradoxical embolism and cerebrovascular accidents and ASD/PFO in association with other congenital heart defects causing right-to-left shunt. The objective of this article is to describe the use of buttoned device in effectively occluding ASD/PFO to relieve hypoxemia of POS. During a 4-year period ending January 2000, 10 patients, ages 71 +/- 9 (range 60-83) years with POS underwent buttoned device closure of their ASD/PFO. Echocardiographic and balloon-stretched atrial defect sizes were 8 +/- 3 mm and 12 +/- 3 mm, respectively. The ASD/PFO were occluded with devices ranging in size from 25 to 40 mm delivered via 9 French, long, blue Cook sheaths; eight had an additional 25- or 35-mm occluder placed on the right atrial side. The oxygen saturation increased (P < 0.001) from 76 +/- 7% (range 69-86%) to 95 +/- 2% (range 92-98%). No complications were encountered. Relief of symptoms was seen in all patients. Follow-up of 1-36 months (median 12 months) revealed persistent improvement of symptoms. Buttoned device occlusion of ASD/PFO to relieve hypoxemia of POS is feasible, safe, and effective and is an excellent alternative to surgery. Cathet Cardiovasc Intervent 2001;54:77-82.

Aged↗